Variant report

Variant	esv20393
Chromosome Location	chr14:70038588-70041438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr14:70041382-70041806	GM12878	blood:	n/a	n/a
2	CHD2	chr14:70038693-70038959	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr14:70041259-70041667	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr14:70041437-70041486	HepG2	liver:	n/a	n/a
5	CHD2	chr14:70039330-70039421	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr14:70041401-70041753	GM12891	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
7	CTCF	chr14:70041271-70042031	HCT-116	colon:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
8	CTCF	chr14:70041406-70041743	Gliobla	brain:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
9	CTCF	chr14:70041369-70041778	ECC-1	luminal epithelium:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
10	CTCF	chr14:70041433-70041753	GM19240	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
11	CTCF	chr14:70041200-70041350	AG04449	skin:	n/a	n/a
12	CTCF	chr14:70039069-70039170	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:70041367-70041770	HepG2	liver:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
14	CTCF	chr14:70040900-70041050	HCM	heart:	n/a	n/a
15	CTCF	chr14:70041377-70041799	Spleen_OC	spleen:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
16	CTCF	chr14:70041384-70041739	H1-hESC	embryonic stem cell:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
17	CTCF	chr14:70041402-70041403	GM10248	blood:	n/a	n/a
18	CTCF	chr14:70039246-70039254	LNCaP	prostate:	n/a	n/a
19	CTCF	chr14:70041389-70041925	MCF-7	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
20	CTCF	chr14:70040977-70042126	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041141-70041154 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
21	CTCF	chr14:70041412-70041447	GM10248	blood:	n/a	n/a
22	CTCF	chr14:70041364-70041857	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
23	CTCF	chr14:70041100-70041250	AG04450	lung:	n/a	chr14:70041141-70041154
24	CTCF	chr14:70041160-70041310	HCM	heart:	n/a	n/a
25	CTCF	chr14:70041262-70041885	HCT-116	colon:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
26	CTCF	chr14:70039180-70039330	AG04449	skin:	n/a	chr14:70039271-70039284 chr14:70039283-70039296
27	CTCF	chr14:70041410-70041814	K562	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
28	CTCF	chr14:70041160-70041310	SAEC	small airway:	n/a	n/a
29	CTCF	chr14:70041243-70041738	T-47D	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
30	CTCF	chr14:70039238-70039245	LNCaP	prostate:	n/a	n/a
31	CTCF	chr14:70041432-70041806	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
32	CTCF	chr14:70041425-70041732	H1-hESC	embryonic stem cell:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
33	CTCF	chr14:70041331-70041393	Lung_OC	lung:	n/a	n/a
34	CTCF	chr14:70041235-70041971	MCF-7	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
35	CTCF	chr14:70041424-70041746	NHEK	skin:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
36	CTCF	chr14:70038520-70038670	NHEK	skin:	n/a	chr14:70038578-70038591
37	CTCF	chr14:70041180-70041330	GM12874	blood:	n/a	n/a
38	CTCF	chr14:70041356-70041827	T-47D	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
39	CTCF	chr14:70041323-70041711	K562	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
40	CTCF	chr14:70041437-70041742	MCF-7	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
41	CTCF	chr14:70041070-70042069	SK-N-SH	brain:	n/a	chr14:70041613-70041626 chr14:70041141-70041154 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
42	CTCF	chr14:70041419-70041824	GM12878	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
43	CTCF	chr14:70039177-70039191	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:70041423-70041745	GM12892	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
45	CTCF	chr14:70041430-70041832	K562	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
46	CTCF	chr14:70041415-70041868	IMR90	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
47	E2F6	chr14:70041152-70041792	H1-hESC	embryonic stem cell:	n/a	chr14:70041273-70041288 chr14:70041340-70041349
48	E2F6	chr14:70037838-70041874	H1-hESC	embryonic stem cell:	n/a	chr14:70039917-70039926 chr14:70040055-70040065 chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70039907-70039917 chr14:70038869-70038880 chr14:70041273-70041288 chr14:70041340-70041349 chr14:70039085-70039095
49	E2F6	chr14:70038151-70039756	A549	lung:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095
50	E2F6	chr14:70038047-70039768	H1-hESC	embryonic stem cell:	n/a	chr14:70039052-70039062 chr14:70039095-70039104 chr14:70039088-70039098 chr14:70038869-70038880 chr14:70039085-70039095

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70038717-70038767	GM12892	blood:	n/a
2	chr14:70038949-70038999	HRCEpiC	kidney:	n/a
3	chr14:70038884-70038934	A549	lung:	n/a
4	chr14:70038925-70038975	HIPEpiC	eye:	n/a
5	chr14:70041283-70041333	ovcar-3	ovarian:	n/a
6	chr14:70038717-70038767	GM12878	blood:	n/a
7	chr14:70039262-70039312	HPAEpiC	pulmonary alveolar:	n/a
8	chr14:70038949-70038999	Caco-2	colon:	n/a
9	chr14:70038949-70038999	SK-N-SH_RA	brain:	n/a
10	chr14:70038925-70038975	HCPEpiC	choroid plexus:	n/a
11	chr14:70041283-70041333	HUVEC	blood vessel:	n/a
12	chr14:70038949-70038999	K562	blood:	n/a
13	chr14:70041393-70041443	GM12891	blood:	n/a
14	chr14:70038884-70038934	MCF-7	breast:	n/a
15	chr14:70041283-70041333	SK-N-SH	brain:	n/a
16	chr14:70038949-70038999	AG04450	lung:	fetal
17	chr14:70041283-70041333	HMEC	breast:	n/a
18	chr14:70040391-70040441	Hepatocyte	liver:	n/a
19	chr14:70040899-70040949	HMEC	breast:	n/a
20	chr14:70040391-70040441	NHDF-neo	bronchial:	n/a
21	chr14:70038717-70038767	IMR90	lung:	fetal
22	chr14:70041214-70041264	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:70039915-70039965	MCF10A-Er-Src	breast:	n/a
24	chr14:70041283-70041333	SAEC	small airway:	n/a
25	chr14:70040899-70040949	RPTEC	kidney:	n/a
26	chr14:70038949-70038999	BJ	skin:	n/a
27	chr14:70038717-70038767	PFSK-1	brain:	n/a
28	chr14:70041393-70041443	K562	blood:	n/a
29	chr14:70041393-70041443	Jurkat	blood:	n/a
30	chr14:70038884-70038934	K562	blood:	n/a
31	chr14:70038925-70038975	HCT-116	colon:	n/a
32	chr14:70038884-70038934	AG04450	lung:	fetal
33	chr14:70038949-70038999	HCT-116	colon:	n/a
34	chr14:70041214-70041264	PFSK-1	brain:	n/a
35	chr14:70038717-70038767	HIPEpiC	eye:	n/a
36	chr14:70039915-70039965	HAEpiC	amniotic membrane:	n/a
37	chr14:70039915-70039965	PrEC	prostate:	n/a
38	chr14:70038884-70038934	Hepatocyte	liver:	n/a
39	chr14:70038949-70038999	RPTEC	kidney:	n/a
40	chr14:70040899-70040949	BE2_C	brain:	n/a
41	chr14:70041214-70041264	Hepatocyte	liver:	n/a
42	chr14:70041283-70041333	HL-60	blood:	n/a
43	chr14:70041393-70041443	NB4	blood:	n/a
44	chr14:70038717-70038767	CMK	blood:	n/a
45	chr14:70040899-70040949	AG09319	gingival:	n/a
46	chr14:70041283-70041333	PFSK-1	brain:	n/a
47	chr14:70038949-70038999	GM12878	blood:	n/a
48	chr14:70041214-70041264	GM12891	blood:	n/a
49	chr14:70039262-70039312	BJ	skin:	n/a
50	chr14:70038884-70038934	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
2	chr14:69970362..69971107-chr14:70041144..70041646,2	K562	blood:
3	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
4	chr14:70001699..70002644-chr14:70040741..70042019,6	MCF-7	breast:
5	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
6	chr14:70001682..70002652-chr14:70041139..70042080,9	MCF-7	breast:
7	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
8	chr14:69970369..69971161-chr14:70041166..70042114,4	MCF-7	breast:
9	chr14:70041091..70041642-chr14:70193316..70193928,2	MCF-7	breast:
10	chr14:69709466..69710008-chr14:70041288..70042008,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267909	TF binding region
CCDC177	TF binding region
ENSG00000267909	CpG island
CCDC177	CpG island
ENSG00000267909	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000175985	chromatin interactions
ENSG00000255994	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555992807	chr14:70038623-70038624	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs181281159	chr14:70038636-70038637	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535369862	chr14:70038728-70038729	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs7142060	chr14:70038786-70038787	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578235601	chr14:70038818-70038819	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545446780	chr14:70038827-70038828	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557180286	chr14:70038845-70038846	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369508213	chr14:70038904-70038905	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542669116	chr14:70038933-70038934	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560978456	chr14:70039004-70039005	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529128209	chr14:70039076-70039077	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540973036	chr14:70039218-70039219	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559111245	chr14:70039220-70039221	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs532991181	chr14:70039246-70039247	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs551409308	chr14:70039329-70039330	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs186090620	chr14:70039343-70039344	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs569667443	chr14:70039362-70039363	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs530665858	chr14:70039424-70039425	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548978631	chr14:70039440-70039441	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs112597196	chr14:70039442-70039443	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs76334242	chr14:70039444-70039445	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs535329438	chr14:70039449-70039450	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs373394809	chr14:70039462-70039463	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs141336782	chr14:70039475-70039476	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs571768682	chr14:70039505-70039506	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs112068716	chr14:70039522-70039523	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538880886	chr14:70039533-70039534	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs557390838	chr14:70039576-70039577	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7147881	chr14:70039587-70039588	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554873304	chr14:70039662-70039663	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs554539552	chr14:70039672-70039673	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs540146735	chr14:70039694-70039695	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs202100921	chr14:70039803-70039804	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375620132	chr14:70039804-70039805	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs60812300	chr14:70039809-70039810	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4048622	chr14:70039824-70039825	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs4902734	chr14:70039881-70039882	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540885499	chr14:70039916-70039917	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs559226383	chr14:70040019-70040020	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs6573892	chr14:70040223-70040224	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544861271	chr14:70040227-70040228	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563526840	chr14:70040241-70040242	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs530519555	chr14:70040255-70040256	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs117298196	chr14:70040280-70040281	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs576968208	chr14:70040291-70040292	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs190804679	chr14:70040293-70040294	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs528099391	chr14:70040313-70040314	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs138905072	chr14:70040359-70040360	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs558596005	chr14:70040378-70040379	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs113077435	chr14:70040391-70040392	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70036600-70039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:70036600-70040200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:70037200-70039600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:70037400-70039600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr14:70037600-70039000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70037600-70039600	Bivalent Enhancer	Placenta	Placenta
8	chr14:70037800-70038600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr14:70037800-70039600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
12	chr14:70038000-70038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:70038000-70038600	Bivalent Enhancer	Colon Smooth Muscle	Colon
14	chr14:70038000-70038600	Enhancers	Pancreas	Pancrea
15	chr14:70038000-70038600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr14:70038000-70038800	Weak transcription	Hela-S3	cervix
17	chr14:70038000-70039600	Bivalent Enhancer	Fetal Heart	heart
18	chr14:70038000-70040400	Enhancers	Liver	Liver
19	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
20	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr14:70038200-70038600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:70038200-70038600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr14:70038200-70038600	Bivalent Enhancer	Esophagus	oesophagus
25	chr14:70038200-70038600	Bivalent Enhancer	Left Ventricle	heart
26	chr14:70038200-70038600	Enhancers	Spleen	Spleen
27	chr14:70038200-70038800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:70038200-70038800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
29	chr14:70038200-70038800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:70038200-70038800	Enhancers	Gastric	stomach
31	chr14:70038200-70038800	Bivalent Enhancer	Lung	lung
32	chr14:70038200-70038800	Flanking Bivalent TSS/Enh	Ovary	ovary
33	chr14:70038200-70039000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr14:70038200-70039000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr14:70038200-70039000	Bivalent Enhancer	Fetal Lung	lung
36	chr14:70038200-70039000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr14:70038200-70039200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr14:70038200-70039400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:70038200-70039400	Bivalent/Poised TSS	HSMMtube	muscle
40	chr14:70038200-70039600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:70038200-70039600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr14:70038200-70040600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr14:70038200-70040600	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
48	chr14:70038200-70040800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr14:70038400-70038600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:70038400-70038600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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