Variant report

Variant	nsv888809
Chromosome Location	chr7:100491451-100495530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:921)
CpG islands
(count:1038)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:921 , 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	chr7:100494017-100494492	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr7:100494073-100494398	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr7:100494168-100494495	K562	blood:	n/a	n/a
4	ATF3	chr7:100493584-100493937	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	chr7:100494769-100495026	K562	blood:	n/a	n/a
8	BACH1	chr7:100493104-100493154	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	chr7:100493709-100495065	H1-hESC	embryonic stem cell:	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	chr7:100495470-100495753	K562	blood:	n/a	n/a
15	BHLHE40	chr7:100494816-100495068	K562	blood:	n/a	n/a
16	BHLHE40	chr7:100491837-100492207	K562	blood:	n/a	n/a
17	BHLHE40	chr7:100494817-100494900	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:100493664-100494277	K562	blood:	n/a	n/a
19	BRCA1	chr7:100492006-100492206	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr7:100491918-100492206	HepG2	liver:	n/a	n/a
21	BRCA1	chr7:100491836-100492209	GM12878	blood:	n/a	n/a
22	BRCA1	chr7:100492556-100492631	H1-hESC	embryonic stem cell:	n/a	n/a
23	CBX3	chr7:100493586-100493893	K562	blood:	n/a	n/a
24	CBX3	chr7:100493515-100494527	K562	blood:	n/a	n/a
25	CBX3	chr7:100492382-100492704	K562	blood:	n/a	n/a
26	CBX3	chr7:100494678-100495986	K562	blood:	n/a	n/a
27	CCNT2	chr7:100495430-100495731	K562	blood:	n/a	n/a
28	CCNT2	chr7:100492094-100495029	K562	blood:	n/a	chr7:100492742-100492751
29	CEBPB	chr7:100494120-100494419	K562	blood:	n/a	n/a
30	CEBPB	chr7:100494234-100494379	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:100494149-100494482	HepG2	liver:	n/a	n/a
32	CEBPB	chr7:100495018-100495123	K562	blood:	n/a	n/a
33	CEBPB	chr7:100494141-100494478	K562	blood:	n/a	n/a
34	CEBPB	chr7:100494276-100494282	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr7:100495406-100495977	K562	blood:	n/a	n/a
36	CEBPD	chr7:100495315-100496057	K562	blood:	n/a	n/a
37	CEBPD	chr7:100495327-100495922	K562	blood:	n/a	n/a
38	CHD1	chr7:100492614-100492763	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
39	CHD2	chr7:100495513-100495797	K562	blood:	n/a	n/a
40	CHD2	chr7:100494929-100495285	K562	blood:	n/a	n/a
41	CHD2	chr7:100492006-100492206	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr7:100492009-100492206	K562	blood:	n/a	n/a
43	CHD2	chr7:100491842-100492211	GM12878	blood:	n/a	n/a
44	CHD2	chr7:100492493-100492634	H1-hESC	embryonic stem cell:	n/a	chr7:100492616-100492626
45	CHD2	chr7:100491838-100492063	HepG2	liver:	n/a	n/a
46	CREB1	chr7:100494765-100495018	A549	lung:	n/a	n/a
47	CREB1	chr7:100493605-100494613	HepG2	liver:	n/a	n/a
48	CTBP2	chr7:100493682-100494302	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr7:100491740-100491890	GM12875	blood:	n/a	n/a
50	CTCF	chr7:100494760-100494910	GM12865	blood:	n/a	n/a

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100493522-100493572	ProgFib	skin:	n/a
2	chr7:100493522-100493572	ProgFib	skin:	n/a
3	chr7:100492376-100492426	GM12892	blood:	n/a
4	chr7:100493522-100493572	ovcar-3	ovarian:	n/a
5	chr7:100492175-100492225	LNCaP	prostate:	n/a
6	chr7:100493811-100493861	Jurkat	blood:	n/a
7	chr7:100493811-100493861	GM19239	blood:	n/a
8	chr7:100493710-100493760	HCF	heart:	n/a
9	chr7:100492700-100492750	HCF	heart:	n/a
10	chr7:100492945-100492995	Hela-S3	cervix:	n/a
11	chr7:100492700-100492750	HMEC	breast:	n/a
12	chr7:100492376-100492426	Jurkat	blood:	n/a
13	chr7:100492700-100492750	NHDF-neo	bronchial:	n/a
14	chr7:100494380-100494430	HEK293	kidney:	embryo
15	chr7:100494380-100494430	HCM	heart:	n/a
16	chr7:100492186-100492236	HRCEpiC	kidney:	n/a
17	chr7:100492945-100492995	HepG2	liver:	n/a
18	chr7:100492175-100492225	Jurkat	blood:	n/a
19	chr7:100492175-100492225	Hela-S3	cervix:	n/a
20	chr7:100492700-100492750	NHBE	bronchial:	n/a
21	chr7:100493522-100493572	SAEC	small airway:	n/a
22	chr7:100492945-100492995	PrEC	prostate:	n/a
23	chr7:100492175-100492225	HepG2	liver:	n/a
24	chr7:100493500-100493550	HCF	heart:	n/a
25	chr7:100492186-100492236	IMR90	lung:	fetal
26	chr7:100492376-100492426	HNPCEpiC	eye:	n/a
27	chr7:100493365-100493415	CMK	blood:	n/a
28	chr7:100492376-100492426	U87	brain:	n/a
29	chr7:100493811-100493861	HEEpiC	esophagus:	n/a
30	chr7:100492376-100492426	GM12878	blood:	n/a
31	chr7:100493811-100493861	SK-N-SH_RA	brain:	n/a
32	chr7:100494800-100494850	ProgFib	skin:	n/a
33	chr7:100493500-100493550	CMK	blood:	n/a
34	chr7:100494521-100494571	SKMC	muscle:	n/a
35	chr7:100493365-100493415	A549	lung:	n/a
36	chr7:100492186-100492236	GM19239	blood:	n/a
37	chr7:100492175-100492225	H1-hESC	embryonic stem cell:	embryo
38	chr7:100491714-100491764	ProgFib	skin:	n/a
39	chr7:100493811-100493861	NH-A	brain:	n/a
40	chr7:100494424-100494474	HMEC	breast:	n/a
41	chr7:100494521-100494571	NHBE	bronchial:	n/a
42	chr7:100493724-100493774	Caco-2	colon:	n/a
43	chr7:100492700-100492750	SAEC	small airway:	n/a
44	chr7:100493365-100493415	SK-N-SH_RA	brain:	n/a
45	chr7:100493522-100493572	NHDF-neo	bronchial:	n/a
46	chr7:100492175-100492225	ProgFib	skin:	n/a
47	chr7:100492376-100492426	AG09309	skin:	n/a
48	chr7:100493710-100493760	MCF10A-Er-Src	breast:	n/a
49	chr7:100492175-100492225	AG09309	skin:	n/a
50	chr7:100492376-100492426	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:100026330..100028332-chr7:100493941..100495752,2	K562	blood:
2	chr7:100494043..100496246-chr7:100550371..100552219,2	K562	blood:
3	chr7:100493649..100495175-chr7:100549463..100550982,2	MCF-7	breast:
4	chr7:100491227..100493354-chr7:100886184..100889152,2	K562	blood:
5	chr7:100495042..100497121-chr7:100497583..100500198,2	MCF-7	breast:
6	chr7:100492151..100493007-chr7:100781451..100782108,2	MCF-7	breast:
7	chr7:100492534..100493288-chr7:100720555..100721076,2	K562	blood:
8	chr7:100026330..100028591-chr7:100493941..100496922,3	K562	blood:
9	chr7:100492814..100493314-chr7:100738077..100738742,2	K562	blood:
10	chr7:100490569..100492448-chr7:100550621..100553306,2	MCF-7	breast:
11	chr7:100491420..100497264-chr7:100607951..100612175,9	K562	blood:
12	chr7:100494655..100497277-chr7:100728768..100731587,2	K562	blood:
13	chr7:100494780..100495608-chr7:100609169..100610066,2	MCF-7	breast:
14	chr7:100491924..100495059-chr7:100886100..100889819,5	MCF-7	breast:
15	chr7:100270007..100272523-chr7:100492882..100494851,2	K562	blood:
16	chr7:100491799..100497264-chr7:100607837..100612175,9	K562	blood:
17	chr7:100492296..100493068-chr7:100887259..100887881,3	MCF-7	breast:
18	chr7:100494864..100496737-chr7:100607538..100610305,2	MCF-7	breast:
19	chr7:100492344..100495062-chr7:100726871..100729209,3	MCF-7	breast:
20	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:
21	chr7:100492733..100496183-chr7:100699112..100703676,5	MCF-7	breast:
22	chr7:100492126..100493072-chr7:100720609..100721480,6	MCF-7	breast:
23	chr7:100491373..100494455-chr7:100609680..100612292,3	MCF-7	breast:
24	chr7:100494599..100495240-chr7:100720850..100721501,2	MCF-7	breast:
25	chr7:100493490..100497118-chr7:100701265..100703603,3	K562	blood:
26	chr7:100492173..100493049-chr7:100701899..100703390,5	K562	blood:
27	chr7:100494449..100495718-chr7:100608430..100610036,6	MCF-7	breast:
28	chr7:100492615..100493493-chr7:100609306..100609962,2	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
ENSG00000169894	chromatin interactions
ENSG00000106400	chromatin interactions
ENSG00000214253	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000106397	chromatin interactions
ENSG00000172354	chromatin interactions
ENSG00000169871	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000222636	chromatin interactions
ENSG00000225946	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17885778	chr7:100491451-100491452	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs145703834	chr7:100491491-100491492	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs61729575	chr7:100491520-100491521	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs1056867	chr7:100491550-100491551	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs267601193	chr7:100491570-100491571	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs200704584	chr7:100491578-100491579	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs114367422	chr7:100491588-100491589	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs201661044	chr7:100491598-100491599	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs200961647	chr7:100491627-100491628	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs143172740	chr7:100491637-100491638	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs267601194	chr7:100491638-100491639	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs376602129	chr7:100491647-100491648	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs564660930	chr7:100491655-100491656	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs571839755	chr7:100491662-100491663	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs17228574	chr7:100491671-100491672	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs17234982	chr7:100491685-100491686	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114782198	chr7:100491687-100491688	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs375017123	chr7:100491700-100491701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs368433352	chr7:100491713-100491714	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs371989032	chr7:100491723-100491724	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs116298479	chr7:100491729-100491730	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs13246682	chr7:100491742-100491743	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs17881553	chr7:100491753-100491754	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566212629	chr7:100491754-100491755	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs371637317	chr7:100491762-100491763	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs527311139	chr7:100491767-100491768	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs201129950	chr7:100491788-100491789	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs548600743	chr7:100491798-100491799	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs567874662	chr7:100491809-100491810	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs369950352	chr7:100491814-100491815	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs538570516	chr7:100491824-100491825	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs535309257	chr7:100491825-100491826	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs571900024	chr7:100491845-100491846	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs373484696	chr7:100491847-100491848	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs539221598	chr7:100491881-100491882	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs145798043	chr7:100491904-100491905	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs111851868	chr7:100491938-100491939	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs372545946	chr7:100491983-100491984	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs112880690	chr7:100492009-100492010	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
40	rs542656834	chr7:100492019-100492020	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
41	rs112474189	chr7:100492023-100492024	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
42	rs554907378	chr7:100492065-100492066	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
43	rs576346215	chr7:100492097-100492098	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr7:100488800-100491800	Weak transcription	HSMM	muscle
4	chr7:100488800-100492000	Weak transcription	Gastric	stomach
5	chr7:100488800-100492000	Weak transcription	HSMMtube	muscle
6	chr7:100488800-100492200	Enhancers	Psoas Muscle	Psoas
7	chr7:100488800-100492400	Weak transcription	Lung	lung
8	chr7:100488800-100492400	Weak transcription	Right Atrium	heart
9	chr7:100488800-100492600	Weak transcription	Aorta	Aorta
10	chr7:100488800-100492800	Weak transcription	Small Intestine	intestine
11	chr7:100489000-100491800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:100489000-100492000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:100489000-100492000	Weak transcription	Right Ventricle	heart
14	chr7:100489000-100492400	Weak transcription	Left Ventricle	heart
15	chr7:100489000-100492400	Weak transcription	Pancreas	Pancrea
16	chr7:100489000-100492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:100489000-100492600	Weak transcription	Ovary	ovary
18	chr7:100489200-100491600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:100489200-100491800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:100489200-100492000	Weak transcription	Placenta	Placenta
21	chr7:100489200-100492000	Weak transcription	GM12878-XiMat	blood
22	chr7:100489200-100492200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:100489200-100492200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:100489200-100492400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:100489200-100492800	Weak transcription	Brain Substantia Nigra	brain
26	chr7:100489400-100491800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:100489400-100491800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:100489400-100492000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:100489400-100492000	Weak transcription	A549	lung
30	chr7:100489400-100492000	Weak transcription	Hela-S3	cervix
31	chr7:100489600-100491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:100489600-100491800	Weak transcription	Fetal Lung	lung
33	chr7:100489600-100492000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:100489800-100491600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:100489800-100491800	Weak transcription	Esophagus	oesophagus
36	chr7:100489800-100491800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:100490000-100491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:100490000-100492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:100490000-100492400	Weak transcription	NH-A	brain
40	chr7:100490200-100491600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
41	chr7:100490400-100491600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
42	chr7:100490800-100492200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:100491000-100491600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr7:100491200-100491600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:100491200-100491800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
46	chr7:100491200-100492000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:100491200-100493600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:100491400-100491600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:100491400-100491600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:100491400-100491800	Enhancers	K562	blood

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