Variant report

Variant	nsv888810
Chromosome Location	chr7:100492127-100495530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:907)
CpG islands
(count:978)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr7:100493584-100493937	K562	blood:	n/a	n/a
4	ATF3	chr7:100494168-100494495	K562	blood:	n/a	n/a
5	ATF3	chr7:100494185-100494460	HepG2	liver:	n/a	n/a
6	BACH1	chr7:100493122-100493270	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:100493709-100495065	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:100494769-100495026	K562	blood:	n/a	n/a
9	BACH1	chr7:100492608-100492850	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:100491837-100492206	K562	blood:	n/a	n/a
11	BACH1	chr7:100493104-100493154	K562	blood:	n/a	n/a
12	BACH1	chr7:100493714-100494353	K562	blood:	n/a	n/a
13	BCLAF1	chr7:100494723-100494989	GM12878	blood:	n/a	chr7:100494859-100494872
14	BHLHE40	chr7:100491837-100492207	K562	blood:	n/a	n/a
15	BHLHE40	chr7:100494816-100495068	K562	blood:	n/a	n/a
16	BHLHE40	chr7:100494817-100494900	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:100495470-100495753	K562	blood:	n/a	n/a
18	BHLHE40	chr7:100493664-100494277	K562	blood:	n/a	n/a
19	BRCA1	chr7:100491836-100492209	GM12878	blood:	n/a	n/a
20	BRCA1	chr7:100492006-100492206	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr7:100492556-100492631	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr7:100491918-100492206	HepG2	liver:	n/a	n/a
23	CBX3	chr7:100493515-100494527	K562	blood:	n/a	n/a
24	CBX3	chr7:100494678-100495986	K562	blood:	n/a	n/a
25	CBX3	chr7:100492382-100492704	K562	blood:	n/a	n/a
26	CBX3	chr7:100493586-100493893	K562	blood:	n/a	n/a
27	CCNT2	chr7:100492094-100495029	K562	blood:	n/a	chr7:100492742-100492751
28	CCNT2	chr7:100495430-100495731	K562	blood:	n/a	n/a
29	CEBPB	chr7:100495018-100495123	K562	blood:	n/a	n/a
30	CEBPB	chr7:100495406-100495977	K562	blood:	n/a	n/a
31	CEBPB	chr7:100494234-100494379	HepG2	liver:	n/a	n/a
32	CEBPB	chr7:100494149-100494482	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:100494120-100494419	K562	blood:	n/a	n/a
34	CEBPB	chr7:100494141-100494478	K562	blood:	n/a	n/a
35	CEBPB	chr7:100494276-100494282	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr7:100495327-100495922	K562	blood:	n/a	n/a
37	CEBPD	chr7:100495315-100496057	K562	blood:	n/a	n/a
38	CHD1	chr7:100492614-100492763	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
39	CHD2	chr7:100491842-100492211	GM12878	blood:	n/a	n/a
40	CHD2	chr7:100492006-100492206	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr7:100495513-100495797	K562	blood:	n/a	n/a
42	CHD2	chr7:100492493-100492634	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
43	CHD2	chr7:100492009-100492206	K562	blood:	n/a	n/a
44	CHD2	chr7:100494929-100495285	K562	blood:	n/a	n/a
45	CREB1	chr7:100493605-100494613	HepG2	liver:	n/a	n/a
46	CREB1	chr7:100494765-100495018	A549	lung:	n/a	n/a
47	CTBP2	chr7:100493682-100494302	H1-hESC	embryonic stem cell:	n/a	n/a
48	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
49	CTCF	chr7:100494840-100494990	HAc	cerebellar:	n/a	chr7:100494903-100494919 chr7:100494902-100494920 chr7:100494902-100494915 chr7:100494905-100494918 chr7:100494905-100494918 chr7:100494904-100494925
50	CTCF	chr7:100495164-100495223	GM13976	blood:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100492175-100492225	HRPEpiC	eye:	n/a
2	chr7:100492175-100492225	ProgFib	skin:	n/a
3	chr7:100492175-100492225	HRPEpiC	eye:	n/a
4	chr7:100492175-100492225	ProgFib	skin:	n/a
5	chr7:100493724-100493774	HL-60	blood:	n/a
6	chr7:100493849-100493899	NH-A	brain:	n/a
7	chr7:100493724-100493774	SK-N-SH_RA	brain:	n/a
8	chr7:100494521-100494571	HCM	heart:	n/a
9	chr7:100492945-100492995	H1-hESC	embryonic stem cell:	embryo
10	chr7:100492376-100492426	HEEpiC	esophagus:	n/a
11	chr7:100492945-100492995	AG04450	lung:	fetal
12	chr7:100493849-100493899	SK-N-SH_RA	brain:	n/a
13	chr7:100493522-100493572	NB4	blood:	n/a
14	chr7:100493849-100493899	ProgFib	skin:	n/a
15	chr7:100493724-100493774	SKMC	muscle:	n/a
16	chr7:100493811-100493861	HL-60	blood:	n/a
17	chr7:100492945-100492995	PrEC	prostate:	n/a
18	chr7:100492700-100492750	PrEC	prostate:	n/a
19	chr7:100493710-100493760	HRCEpiC	kidney:	n/a
20	chr7:100494800-100494850	GM12892	blood:	n/a
21	chr7:100492700-100492750	NHBE	bronchial:	n/a
22	chr7:100492186-100492236	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:100494380-100494430	SAEC	small airway:	n/a
24	chr7:100493710-100493760	PANC-1	pancreas:	n/a
25	chr7:100493710-100493760	NB4	blood:	n/a
26	chr7:100492945-100492995	HepG2	liver:	n/a
27	chr7:100493500-100493550	HEK293	kidney:	embryo
28	chr7:100492376-100492426	PrEC	prostate:	n/a
29	chr7:100493522-100493572	SK-N-SH_RA	brain:	n/a
30	chr7:100494380-100494430	NHDF-neo	bronchial:	n/a
31	chr7:100492175-100492225	HCPEpiC	choroid plexus:	n/a
32	chr7:100493724-100493774	HNPCEpiC	eye:	n/a
33	chr7:100493522-100493572	HepG2	liver:	n/a
34	chr7:100492376-100492426	IMR90	lung:	fetal
35	chr7:100493365-100493415	GM12892	blood:	n/a
36	chr7:100493811-100493861	MCF-7	breast:	n/a
37	chr7:100494380-100494430	HRPEpiC	eye:	n/a
38	chr7:100492700-100492750	Hepatocyte	liver:	n/a
39	chr7:100494424-100494474	NT2-D1	testis:	n/a
40	chr7:100494424-100494474	BE2_C	brain:	n/a
41	chr7:100494424-100494474	ProgFib	skin:	n/a
42	chr7:100492175-100492225	GM12878	blood:	n/a
43	chr7:100493724-100493774	GM12892	blood:	n/a
44	chr7:100494424-100494474	RPTEC	kidney:	n/a
45	chr7:100492175-100492225	SKMC	muscle:	n/a
46	chr7:100494800-100494850	GM06990	blood:	n/a
47	chr7:100492376-100492426	BJ	skin:	n/a
48	chr7:100493710-100493760	Caco-2	colon:	n/a
49	chr7:100493849-100493899	NHDF-neo	bronchial:	n/a
50	chr7:100493365-100493415	HEEpiC	esophagus:	n/a

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

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

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

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

No data

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

Extended variants
information (count: 126 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2571599	chr7:100492127-100492128	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs544541845	chr7:100492135-100492136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs17882803	chr7:100492168-100492169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs532993693	chr7:100492178-100492179	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs553020120	chr7:100492208-100492209	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 CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs61066039	chr7:100492235-100492236	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 CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs371657664	chr7:100492239-100492240	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
8	rs376313347	chr7:100492240-100492241	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
9	rs61516672	chr7:100492289-100492290	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
10	rs397964700	chr7:100492290-100492291	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
11	rs2720391	chr7:100492295-100492296	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
12	rs3808355	chr7:100492298-100492299	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100488200-100492600	Weak transcription	Liver	Liver
2	chr7:100488600-100492200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:100488800-100492200	Enhancers	Psoas Muscle	Psoas
4	chr7:100488800-100492400	Weak transcription	Lung	lung
5	chr7:100488800-100492400	Weak transcription	Right Atrium	heart
6	chr7:100488800-100492600	Weak transcription	Aorta	Aorta
7	chr7:100488800-100492800	Weak transcription	Small Intestine	intestine
8	chr7:100489000-100492400	Weak transcription	Left Ventricle	heart
9	chr7:100489000-100492400	Weak transcription	Pancreas	Pancrea
10	chr7:100489000-100492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:100489000-100492600	Weak transcription	Ovary	ovary
12	chr7:100489200-100492200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:100489200-100492200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:100489200-100492400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:100489200-100492800	Weak transcription	Brain Substantia Nigra	brain
16	chr7:100490000-100492400	Weak transcription	NH-A	brain
17	chr7:100490800-100492200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:100491200-100493600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:100491400-100492400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:100491400-100492600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:100491600-100492200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr7:100491600-100492200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:100491600-100492400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:100491600-100493400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:100491800-100492200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr7:100491800-100492200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:100491800-100492200	Enhancers	Esophagus	oesophagus
28	chr7:100491800-100492200	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr7:100491800-100492200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:100491800-100492200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr7:100491800-100492200	Flanking Bivalent TSS/Enh	Spleen	Spleen
32	chr7:100491800-100492200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr7:100491800-100492200	Flanking Active TSS	K562	blood
34	chr7:100491800-100492400	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr7:100491800-100492400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr7:100491800-100492400	Enhancers	Fetal Lung	lung
37	chr7:100491800-100492600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr7:100491800-100492600	Bivalent/Poised TSS	Fetal Thymus	thymus
39	chr7:100491800-100493600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr7:100491800-100493600	Active TSS	HSMM	muscle
41	chr7:100491800-100493800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:100491800-100495000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:100492000-100492200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:100492000-100492200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:100492000-100492200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:100492000-100492200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr7:100492000-100492200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr7:100492000-100492200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr7:100492000-100492200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr7:100492000-100492200	Bivalent/Poised TSS	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links