Variant report

Variant	esv3342837
Chromosome Location	chr14:104180724-104183572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:608)
CpG islands
(count:733)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:104181708-104182071	K562	blood:	n/a	n/a
2	ARID3A	chr14:104181716-104182129	HepG2	liver:	n/a	n/a
3	ATF1	chr14:104181789-104182088	K562	blood:	n/a	n/a
4	BACH1	chr14:104182946-104182978	K562	blood:	n/a	n/a
5	BHLHE40	chr14:104181638-104182343	HepG2	liver:	n/a	n/a
6	BHLHE40	chr14:104181692-104182268	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:104181657-104182117	K562	blood:	n/a	n/a
8	BHLHE40	chr14:104183478-104183845	K562	blood:	n/a	chr14:104183716-104183737
9	BHLHE40	chr14:104181035-104181077	K562	blood:	n/a	n/a
10	BHLHE40	chr14:104180450-104180768	GM12878	blood:	n/a	n/a
11	BRCA1	chr14:104181643-104181893	GM12878	blood:	n/a	n/a
12	BRCA1	chr14:104181438-104182113	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr14:104181922-104181946	HepG2	liver:	n/a	n/a
14	BRCA1	chr14:104181658-104181667	HepG2	liver:	n/a	n/a
15	CCNT2	chr14:104181401-104182801	K562	blood:	n/a	n/a
16	CEBPB	chr14:104181783-104182156	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:104181515-104181550	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr14:104181826-104182082	HepG2	liver:	n/a	n/a
19	CEBPD	chr14:104181912-104182319	HepG2	liver:	n/a	n/a
20	CEBPZ	chr14:104181718-104182101	HepG2	liver:	n/a	n/a
21	CHD1	chr14:104181449-104181686	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr14:104181412-104181948	GM12878	blood:	n/a	n/a
23	CHD2	chr14:104181607-104182281	GM12878	blood:	n/a	n/a
24	CHD2	chr14:104181619-104182140	HepG2	liver:	n/a	n/a
25	CHD2	chr14:104182941-104183242	GM12878	blood:	n/a	n/a
26	CHD2	chr14:104181403-104182354	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr14:104181502-104182209	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr14:104181628-104182218	K562	blood:	n/a	n/a
29	CHD2	chr14:104182838-104182860	HepG2	liver:	n/a	n/a
30	CREB1	chr14:104181581-104182318	GM12878	blood:	n/a	n/a
31	CREB1	chr14:104181319-104182512	HepG2	liver:	n/a	n/a
32	CREB1	chr14:104181657-104182366	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr14:104181396-104182398	A549	lung:	n/a	n/a
34	CREB1	chr14:104181491-104182372	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr14:104181528-104182377	HepG2	liver:	n/a	n/a
36	CTCF	chr14:104182224-104182261	GM12891	blood:	n/a	n/a
37	CTCF	chr14:104183420-104183570	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr14:104183520-104183670	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr14:104181843-104182089	GM12878	blood:	n/a	n/a
40	CTCF	chr14:104181655-104182115	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr14:104183460-104183610	HEK293	kidney:	n/a	n/a
42	CTCF	chr14:104183440-104183590	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr14:104183360-104183510	HRE	kidney:	n/a	n/a
44	CTCF	chr14:104181777-104181786	Lung_OC	lung:	n/a	n/a
45	CTCF	chr14:104182164-104182234	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr14:104181847-104182022	Lung_OC	lung:	n/a	n/a
47	CTCF	chr14:104183360-104183510	GM12873	blood:	n/a	n/a
48	CTCF	chr14:104183480-104183630	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr14:104183535-104183562	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:104183549-104183599	GM12878	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104183509-104183559	MCF10A-Er-Src	breast:	n/a
2	chr14:104183509-104183559	MCF10A-Er-Src	breast:	n/a
3	chr14:104182175-104182225	GM06990	blood:	n/a
4	chr14:104183509-104183559	HCF	heart:	n/a
5	chr14:104182175-104182225	GM12892	blood:	n/a
6	chr14:104181924-104181974	HRE	kidney:	n/a
7	chr14:104182045-104182095	NT2-D1	testis:	n/a
8	chr14:104182836-104182886	PrEC	prostate:	n/a
9	chr14:104182951-104183001	ovcar-3	ovarian:	n/a
10	chr14:104182951-104183001	AoSMC	blood vessel:	n/a
11	chr14:104181393-104181443	PFSK-1	brain:	n/a
12	chr14:104181929-104181979	HNPCEpiC	eye:	n/a
13	chr14:104181929-104181979	SK-N-SH	brain:	n/a
14	chr14:104181875-104181925	K562	blood:	n/a
15	chr14:104182836-104182886	HEK293	kidney:	embryo
16	chr14:104182836-104182886	ECC-1	luminal epithelium:	n/a
17	chr14:104181929-104181979	NB4	blood:	n/a
18	chr14:104181393-104181443	HUVEC	blood vessel:	n/a
19	chr14:104182945-104182995	GM12892	blood:	n/a
20	chr14:104182175-104182225	SK-N-SH_RA	brain:	n/a
21	chr14:104182045-104182095	T-47D	breast:	n/a
22	chr14:104181393-104181443	ECC-1	luminal epithelium:	n/a
23	chr14:104182945-104182995	HCF	heart:	n/a
24	chr14:104182951-104183001	T-47D	breast:	n/a
25	chr14:104182836-104182886	HRE	kidney:	n/a
26	chr14:104181924-104181974	AG04450	lung:	fetal
27	chr14:104181929-104181979	SAEC	small airway:	n/a
28	chr14:104182045-104182095	MCF-7	breast:	n/a
29	chr14:104181929-104181979	HCF	heart:	n/a
30	chr14:104182175-104182225	HRCEpiC	kidney:	n/a
31	chr14:104181924-104181974	GM12892	blood:	n/a
32	chr14:104181393-104181443	HepG2	liver:	n/a
33	chr14:104181929-104181979	NH-A	brain:	n/a
34	chr14:104183439-104183489	Jurkat	blood:	n/a
35	chr14:104181924-104181974	NB4	blood:	n/a
36	chr14:104181924-104181974	SK-N-SH	brain:	n/a
37	chr14:104183509-104183559	SK-N-SH_RA	brain:	n/a
38	chr14:104181393-104181443	HNPCEpiC	eye:	n/a
39	chr14:104182175-104182225	HCM	heart:	n/a
40	chr14:104182074-104182124	AG09309	skin:	n/a
41	chr14:104181393-104181443	HAEpiC	amniotic membrane:	n/a
42	chr14:104182945-104182995	GM12891	blood:	n/a
43	chr14:104181875-104181925	IMR90	lung:	fetal
44	chr14:104182836-104182886	HCM	heart:	n/a
45	chr14:104183439-104183489	HRCEpiC	kidney:	n/a
46	chr14:104181929-104181979	HIPEpiC	eye:	n/a
47	chr14:104182945-104182995	NHDF-neo	bronchial:	n/a
48	chr14:104182836-104182886	ProgFib	skin:	n/a
49	chr14:104182045-104182095	MCF10A-Er-Src	breast:	n/a
50	chr14:104181929-104181979	PrEC	prostate:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104181859..104182379-chr6:86353323..86354107,2	Hela-S3	cervix:
2	chr14:104091773..104098220-chr14:104179036..104183968,10	MCF-7	breast:
3	chr14:104181418..104182379-chr9:114393418..114394033,2	Hela-S3	cervix:
4	chr14:104178608..104186342-chr14:104186894..104193138,16	K562	blood:
5	chr14:104092649..104097026-chr14:104179930..104185119,7	MCF-7	breast:
6	chr14:103987454..103990068-chr14:104178702..104181671,2	K562	blood:
7	chr14:104040497..104046116-chr14:104179984..104183762,7	MCF-7	breast:
8	chr14:104027886..104033252-chr14:104178637..104183670,7	MCF-7	breast:
9	chr14:103993654..103996154-chr14:104180669..104183057,2	K562	blood:
10	chr14:104180818..104182685-chr14:104312303..104315136,2	MCF-7	breast:
11	chr14:104182047..104187446-chr14:104194338..104198036,7	K562	blood:
12	chr14:104181282..104181917-chr6:30457138..30457957,2	Hela-S3	cervix:
13	chr14:104182057..104182674-chr14:104195813..104196536,2	MCF-7	breast:
14	chr14:104026026..104030833-chr14:104180410..104184978,6	MCF-7	breast:
15	chr14:104181470..104182117-chr8:125486026..125486841,2	Hela-S3	cervix:
16	chr14:104181509..104182182-chr6:26031441..26032296,2	Hela-S3	cervix:
17	chr14:104095098..104097162-chr14:104179460..104182190,3	K562	blood:
18	chr14:104093419..104097122-chr14:104180603..104183015,4	K562	blood:

No data

Variant related genes	Relation type
XRCC3	TF binding region
ZFYVE21	TF binding region
XRCC3	CpG island
ZFYVE21	CpG island
ENSG00000204173	chromatin interactions
ENSG00000166165	chromatin interactions
ENSG00000245149	chromatin interactions
ENSG00000253096	chromatin interactions
ENSG00000256053	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000244115	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000059769	chromatin interactions
ENSG00000258735	chromatin interactions
ENSG00000166170	chromatin interactions
ENSG00000264904	chromatin interactions
ENSG00000135316	chromatin interactions
ENSG00000166166	chromatin interactions
ENSG00000126214	chromatin interactions
ENSG00000204592	chromatin interactions
ENSG00000260285	chromatin interactions
ENSG00000100711	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532882919	chr14:104180731-104180732	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs3212024	chr14:104180735-104180736	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569497189	chr14:104180744-104180745	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs551539800	chr14:104180803-104180804	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs531831977	chr14:104180814-104180815	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs548717147	chr14:104180821-104180822	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs182927992	chr14:104180823-104180824	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs533632472	chr14:104180846-104180847	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs115223671	chr14:104180853-104180854	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs570093448	chr14:104180861-104180862	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs539382870	chr14:104180880-104180881	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs116700863	chr14:104180921-104180922	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs576261216	chr14:104180924-104180925	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs557805596	chr14:104180952-104180953	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs535296117	chr14:104181002-104181003	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs576415694	chr14:104181005-104181006	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs555499398	chr14:104181007-104181008	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs575030111	chr14:104181014-104181015	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs540706588	chr14:104181015-104181016	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs148235356	chr14:104181022-104181023	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs187681932	chr14:104181044-104181045	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs546150926	chr14:104181052-104181053	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs529550978	chr14:104181117-104181118	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs7156381	chr14:104181126-104181127	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs563042891	chr14:104181163-104181164	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs531990608	chr14:104181169-104181170	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs199793653	chr14:104181170-104181171	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs367965653	chr14:104181228-104181229	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs561943468	chr14:104181233-104181234	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs527413933	chr14:104181276-104181277	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs200972276	chr14:104181289-104181290	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs114065969	chr14:104181325-104181326	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs539086129	chr14:104181376-104181377	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs549705812	chr14:104181385-104181386	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs569862257	chr14:104181507-104181508	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs372268622	chr14:104181511-104181512	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs535732816	chr14:104181524-104181525	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs555626546	chr14:104181582-104181583	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs572252050	chr14:104181593-104181594	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs534771872	chr14:104181594-104181595	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs554326307	chr14:104181676-104181677	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs577363748	chr14:104181685-104181686	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs373669204	chr14:104181700-104181701	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs3212023	chr14:104181715-104181716	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs3212022	chr14:104181728-104181729	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs562891274	chr14:104181729-104181730	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs576710393	chr14:104181732-104181733	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs542488367	chr14:104181751-104181752	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs561980080	chr14:104181783-104181784	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs527896479	chr14:104181789-104181790	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104175200-104181000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:104175800-104180800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:104176400-104180800	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr14:104177400-104180800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:104177600-104180800	Enhancers	Right Ventricle	heart
6	chr14:104177600-104181200	Enhancers	Esophagus	oesophagus
7	chr14:104178000-104180800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:104178000-104181000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr14:104178000-104181000	Enhancers	Placenta	Placenta
10	chr14:104178200-104181000	Enhancers	Colon Smooth Muscle	Colon
11	chr14:104178200-104181400	Weak transcription	HSMMtube	muscle
12	chr14:104178400-104181400	Weak transcription	Aorta	Aorta
13	chr14:104178600-104181200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:104178600-104181200	Weak transcription	Psoas Muscle	Psoas
15	chr14:104178800-104181200	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:104178800-104181400	Weak transcription	Liver	Liver
17	chr14:104179000-104180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:104179000-104181000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:104179000-104181000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:104179000-104181000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:104179000-104181000	Weak transcription	Osteobl	bone
22	chr14:104179200-104180800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:104179200-104181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:104179200-104181000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:104179200-104181000	Enhancers	Fetal Heart	heart
26	chr14:104179200-104181400	Weak transcription	Small Intestine	intestine
27	chr14:104179200-104181400	Weak transcription	NHDF-Ad	bronchial
28	chr14:104179400-104180800	Weak transcription	Primary T cells from cord blood	blood
29	chr14:104179400-104180800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:104179400-104181200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:104179400-104181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:104179600-104180800	Flanking Active TSS	GM12878-XiMat	blood
33	chr14:104179600-104181000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:104179600-104181200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:104179800-104180800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:104179800-104180800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:104179800-104180800	Weak transcription	Adipose Nuclei	Adipose
38	chr14:104179800-104181200	Enhancers	Colonic Mucosa	Colon
39	chr14:104179800-104181200	Weak transcription	Right Atrium	heart
40	chr14:104180000-104180800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:104180000-104181000	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:104180000-104181000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:104180000-104181000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:104180000-104181000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:104180000-104181000	Enhancers	Brain Anterior Caudate	brain
46	chr14:104180000-104181000	Flanking Active TSS	Hela-S3	cervix
47	chr14:104180000-104181200	Enhancers	Fetal Intestine Small	intestine
48	chr14:104180000-104181400	Weak transcription	Brain Substantia Nigra	brain
49	chr14:104180000-104181400	Weak transcription	Lung	lung
50	chr14:104180200-104180800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links