Variant report

Variant	nsv888813
Chromosome Location	chr7:100492322-100495530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:846)
CpG islands
(count:855)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:100494073-100494398	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr7:100494017-100494492	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr7:100494185-100494460	HepG2	liver:	n/a	n/a
4	ATF3	chr7:100493584-100493937	K562	blood:	n/a	n/a
5	ATF3	chr7:100494168-100494495	K562	blood:	n/a	n/a
6	BACH1	chr7:100492608-100492850	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:100493104-100493154	K562	blood:	n/a	n/a
8	BACH1	chr7:100493714-100494353	K562	blood:	n/a	n/a
9	BACH1	chr7:100494769-100495026	K562	blood:	n/a	n/a
10	BACH1	chr7:100493709-100495065	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:100493122-100493270	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr7:100494723-100494989	GM12878	blood:	n/a	chr7:100494859-100494872
13	BHLHE40	chr7:100494817-100494900	GM12878	blood:	n/a	n/a
14	BHLHE40	chr7:100495470-100495753	K562	blood:	n/a	n/a
15	BHLHE40	chr7:100493664-100494277	K562	blood:	n/a	n/a
16	BHLHE40	chr7:100494816-100495068	K562	blood:	n/a	n/a
17	BRCA1	chr7:100492556-100492631	H1-hESC	embryonic stem cell:	n/a	n/a
18	CBX3	chr7:100493586-100493893	K562	blood:	n/a	n/a
19	CBX3	chr7:100493515-100494527	K562	blood:	n/a	n/a
20	CBX3	chr7:100494678-100495986	K562	blood:	n/a	n/a
21	CBX3	chr7:100492382-100492704	K562	blood:	n/a	n/a
22	CCNT2	chr7:100492094-100495029	K562	blood:	n/a	chr7:100492742-100492751
23	CCNT2	chr7:100495430-100495731	K562	blood:	n/a	n/a
24	CEBPB	chr7:100494120-100494419	K562	blood:	n/a	n/a
25	CEBPB	chr7:100495018-100495123	K562	blood:	n/a	n/a
26	CEBPB	chr7:100494149-100494482	HepG2	liver:	n/a	n/a
27	CEBPB	chr7:100494141-100494478	K562	blood:	n/a	n/a
28	CEBPB	chr7:100495406-100495977	K562	blood:	n/a	n/a
29	CEBPB	chr7:100494276-100494282	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr7:100494234-100494379	HepG2	liver:	n/a	n/a
31	CEBPD	chr7:100495327-100495922	K562	blood:	n/a	n/a
32	CEBPD	chr7:100495315-100496057	K562	blood:	n/a	n/a
33	CHD1	chr7:100492614-100492763	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
34	CHD2	chr7:100494929-100495285	K562	blood:	n/a	n/a
35	CHD2	chr7:100495513-100495797	K562	blood:	n/a	n/a
36	CHD2	chr7:100492493-100492634	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
37	CREB1	chr7:100494765-100495018	A549	lung:	n/a	n/a
38	CREB1	chr7:100493605-100494613	HepG2	liver:	n/a	n/a
39	CTBP2	chr7:100493682-100494302	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr7:100492500-100492650	HBMEC	blood vessel:	n/a	chr7:100492576-100492594 chr7:100492579-100492592
41	CTCF	chr7:100494940-100495090	WI-38	lung:	n/a	n/a
42	CTCF	chr7:100494716-100495080	T-47D	breast:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
43	CTCF	chr7:100494730-100495033	H1-hESC	embryonic stem cell:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
44	CTCF	chr7:100492440-100492590	GM12801	blood:	n/a	n/a
45	CTCF	chr7:100494840-100494990	HepG2	liver:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
46	CTCF	chr7:100492420-100492570	HVMF	connective:	n/a	n/a
47	CTCF	chr7:100494687-100495121	K562	blood:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
48	CTCF	chr7:100494764-100495053	GM19239	blood:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
49	CTCF	chr7:100494840-100494990	AG10803	skin:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
50	CTCF	chr7:100492242-100492322	GM12892	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100492700-100492750	ProgFib	skin:	n/a
2	chr7:100492700-100492750	ProgFib	skin:	n/a
3	chr7:100493811-100493861	HPAEpiC	pulmonary alveolar:	n/a
4	chr7:100494380-100494430	SK-N-SH_RA	brain:	n/a
5	chr7:100493849-100493899	LNCaP	prostate:	n/a
6	chr7:100493710-100493760	NHDF-neo	bronchial:	n/a
7	chr7:100493849-100493899	SAEC	small airway:	n/a
8	chr7:100493724-100493774	GM19239	blood:	n/a
9	chr7:100493849-100493899	NB4	blood:	n/a
10	chr7:100493724-100493774	CMK	blood:	n/a
11	chr7:100493365-100493415	HRE	kidney:	n/a
12	chr7:100493500-100493550	Hepatocyte	liver:	n/a
13	chr7:100493811-100493861	HAEpiC	amniotic membrane:	n/a
14	chr7:100493365-100493415	BE2_C	brain:	n/a
15	chr7:100494380-100494430	K562	blood:	n/a
16	chr7:100493849-100493899	NH-A	brain:	n/a
17	chr7:100494800-100494850	NB4	blood:	n/a
18	chr7:100494800-100494850	MCF10A-Er-Src	breast:	n/a
19	chr7:100493849-100493899	MCF10A-Er-Src	breast:	n/a
20	chr7:100492376-100492426	NHBE	bronchial:	n/a
21	chr7:100493724-100493774	MCF-7	breast:	n/a
22	chr7:100492945-100492995	HAEpiC	amniotic membrane:	n/a
23	chr7:100494521-100494571	HCF	heart:	n/a
24	chr7:100493811-100493861	ovcar-3	ovarian:	n/a
25	chr7:100493811-100493861	HNPCEpiC	eye:	n/a
26	chr7:100493811-100493861	PANC-1	pancreas:	n/a
27	chr7:100493365-100493415	SAEC	small airway:	n/a
28	chr7:100494800-100494850	MCF-7	breast:	n/a
29	chr7:100494800-100494850	AG10803	skin:	n/a
30	chr7:100493724-100493774	HUVEC	blood vessel:	n/a
31	chr7:100493811-100493861	AG04449	skin:	fetal
32	chr7:100492700-100492750	HMEC	breast:	n/a
33	chr7:100492376-100492426	GM12891	blood:	n/a
34	chr7:100492376-100492426	SK-N-SH	brain:	n/a
35	chr7:100493849-100493899	H1-hESC	embryonic stem cell:	embryo
36	chr7:100493811-100493861	NHBE	bronchial:	n/a
37	chr7:100494800-100494850	NH-A	brain:	n/a
38	chr7:100492945-100492995	BJ	skin:	n/a
39	chr7:100494800-100494850	PFSK-1	brain:	n/a
40	chr7:100492376-100492426	HIPEpiC	eye:	n/a
41	chr7:100494521-100494571	SK-N-SH	brain:	n/a
42	chr7:100493849-100493899	NHBE	bronchial:	n/a
43	chr7:100493849-100493899	AG10803	skin:	n/a
44	chr7:100493724-100493774	ovcar-3	ovarian:	n/a
45	chr7:100492945-100492995	HUVEC	blood vessel:	n/a
46	chr7:100494800-100494850	HEK293	kidney:	embryo
47	chr7:100492376-100492426	AG10803	skin:	n/a
48	chr7:100494800-100494850	SK-N-SH_RA	brain:	n/a
49	chr7:100494521-100494571	HEK293	kidney:	embryo
50	chr7:100492945-100492995	HRE	kidney:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100494599..100495240-chr7:100720850..100721501,2	MCF-7	breast:
2	chr7:100026330..100028591-chr7:100493941..100496922,3	K562	blood:
3	chr7:100491799..100497264-chr7:100607837..100612175,9	K562	blood:
4	chr7:100491924..100495059-chr7:100886100..100889819,5	MCF-7	breast:
5	chr7:100491420..100497264-chr7:100607951..100612175,9	K562	blood:
6	chr7:100492814..100493314-chr7:100738077..100738742,2	K562	blood:
7	chr7:100491373..100494455-chr7:100609680..100612292,3	MCF-7	breast:
8	chr7:100492733..100496183-chr7:100699112..100703676,5	MCF-7	breast:
9	chr7:100492126..100493072-chr7:100720609..100721480,6	MCF-7	breast:
10	chr7:100494449..100495718-chr7:100608430..100610036,6	MCF-7	breast:
11	chr7:100494780..100495608-chr7:100609169..100610066,2	MCF-7	breast:
12	chr7:100491227..100493354-chr7:100886184..100889152,2	K562	blood:
13	chr7:100495042..100497121-chr7:100497583..100500198,2	MCF-7	breast:
14	chr7:100493490..100497118-chr7:100701265..100703603,3	K562	blood:
15	chr7:100492534..100493288-chr7:100720555..100721076,2	K562	blood:
16	chr7:100270007..100272523-chr7:100492882..100494851,2	K562	blood:
17	chr7:100492296..100493068-chr7:100887259..100887881,3	MCF-7	breast:
18	chr7:100492344..100495062-chr7:100726871..100729209,3	MCF-7	breast:
19	chr7:100026330..100028332-chr7:100493941..100495752,2	K562	blood:
20	chr7:100494043..100496246-chr7:100550371..100552219,2	K562	blood:
21	chr7:100490569..100492448-chr7:100550621..100553306,2	MCF-7	breast:
22	chr7:100493649..100495175-chr7:100549463..100550982,2	MCF-7	breast:
23	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:
24	chr7:100494655..100497277-chr7:100728768..100731587,2	K562	blood:
25	chr7:100492615..100493493-chr7:100609306..100609962,2	MCF-7	breast:
26	chr7:100494864..100496737-chr7:100607538..100610305,2	MCF-7	breast:
27	chr7:100492151..100493007-chr7:100781451..100782108,2	MCF-7	breast:
28	chr7:100492173..100493049-chr7:100701899..100703390,5	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACHE-2	chr7:100494174-100494594	NONHSAT122422
2	lnc-ACHE-2	chr7:100493845-100493902	NONHSAT122422

No data

Variant related genes	Relation type
ACHE	TF binding region
UFSP1	TF binding region
ACHE	CpG island
UFSP1	CpG island
ENSG00000225946	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000222636	chromatin interactions
ENSG00000169894	chromatin interactions
ENSG00000169871	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000214253	chromatin interactions
ENSG00000146834	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3808356	chr7:100492322-100492323	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34853269	chr7:100492329-100492330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs17883552	chr7:100492357-100492358	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548795899	chr7:100492374-100492375	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs17880573	chr7:100492412-100492413	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs531188605	chr7:100492421-100492422	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs371789312	chr7:100492449-100492450	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs368016071	chr7:100492461-100492462	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs550531516	chr7:100492488-100492489	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs2571600	chr7:100492493-100492494	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17885535	chr7:100492500-100492501	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs539256128	chr7:100492506-100492507	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs147846370	chr7:100492553-100492554	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs10953305	chr7:100492568-100492569	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs35724637	chr7:100492574-100492575	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs111337429	chr7:100492615-100492616	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs536789847	chr7:100492632-100492633	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs111372779	chr7:100492656-100492657	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs576411894	chr7:100492685-100492686	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs545233711	chr7:100492702-100492703	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs2720390	chr7:100492706-100492707	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs556054080	chr7:100492726-100492727	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs577469855	chr7:100492813-100492814	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs181944153	chr7:100492832-100492833	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs17883799	chr7:100492833-100492834	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs17885782	chr7:100492879-100492880	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs17880615	chr7:100492896-100492897	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542738269	chr7:100492923-100492924	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs13223639	chr7:100493000-100493001	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs375906608	chr7:100493011-100493012	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs113160358	chr7:100493033-100493034	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs5886144	chr7:100493045-100493046	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs397699336	chr7:100493046-100493047	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs397821579	chr7:100493047-100493048	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs13238201	chr7:100493052-100493053	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs369090680	chr7:100493072-100493073	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs560807622	chr7:100493079-100493080	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs13223945	chr7:100493096-100493097	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs531355508	chr7:100493155-100493156	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs112572096	chr7:100493277-100493278	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs549777520	chr7:100493295-100493296	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs17881696	chr7:100493359-100493360	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs17883855	chr7:100493375-100493376	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs17886584	chr7:100493407-100493408	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs566306241	chr7:100493437-100493438	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs536424047	chr7:100493450-100493451	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs548696367	chr7:100493451-100493452	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs11554088	chr7:100493506-100493507	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs10259887	chr7:100493538-100493539	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs17884317	chr7:100493541-100493542	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100488200-100492600	Weak transcription	Liver	Liver
2	chr7:100488800-100492400	Weak transcription	Lung	lung
3	chr7:100488800-100492400	Weak transcription	Right Atrium	heart
4	chr7:100488800-100492600	Weak transcription	Aorta	Aorta
5	chr7:100488800-100492800	Weak transcription	Small Intestine	intestine
6	chr7:100489000-100492400	Weak transcription	Left Ventricle	heart
7	chr7:100489000-100492400	Weak transcription	Pancreas	Pancrea
8	chr7:100489000-100492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:100489000-100492600	Weak transcription	Ovary	ovary
10	chr7:100489200-100492400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:100489200-100492800	Weak transcription	Brain Substantia Nigra	brain
12	chr7:100490000-100492400	Weak transcription	NH-A	brain
13	chr7:100491200-100493600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:100491400-100492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:100491400-100492600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:100491600-100492400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:100491600-100493400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:100491800-100492400	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr7:100491800-100492400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr7:100491800-100492400	Enhancers	Fetal Lung	lung
21	chr7:100491800-100492600	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr7:100491800-100492600	Bivalent/Poised TSS	Fetal Thymus	thymus
23	chr7:100491800-100493600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:100491800-100493600	Active TSS	HSMM	muscle
25	chr7:100491800-100493800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:100491800-100495000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr7:100492000-100492400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr7:100492000-100492400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:100492000-100492400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:100492000-100492400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr7:100492000-100492400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:100492000-100492400	Enhancers	Right Ventricle	heart
33	chr7:100492000-100492400	Enhancers	A549	lung
34	chr7:100492000-100492600	Enhancers	Placenta	Placenta
35	chr7:100492000-100492600	Flanking Active TSS	HSMMtube	muscle
36	chr7:100492000-100492800	Active TSS	Hela-S3	cervix
37	chr7:100492000-100493200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:100492000-100493400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:100492000-100493600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:100492000-100493600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:100492000-100493600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:100492000-100493800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:100492000-100493800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:100492000-100494000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:100492200-100492400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:100492200-100492400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:100492200-100492400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr7:100492200-100492400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:100492200-100492400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:100492200-100492400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links