Variant report

Variant	nsv428532
Chromosome Location	chr1:160671125-160767708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3143)
CpG islands
(count:1283)
Chromatin interactive
region (count:77)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3143 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:160750006-160750086	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:160738182-160738374	K562	blood:	n/a	n/a
3	ATF1	chr1:160711848-160712048	K562	blood:	n/a	n/a
4	ATF1	chr1:160708887-160709213	K562	blood:	n/a	n/a
5	ATF1	chr1:160759551-160759815	K562	blood:	n/a	n/a
6	ATF1	chr1:160737156-160737641	K562	blood:	n/a	n/a
7	ATF1	chr1:160683077-160683236	K562	blood:	n/a	n/a
8	ATF1	chr1:160746304-160746309	K562	blood:	n/a	n/a
9	ATF2	chr1:160713727-160714727	GM12878	blood:	n/a	n/a
10	ATF2	chr1:160701659-160702392	GM12878	blood:	n/a	n/a
11	ATF2	chr1:160765624-160766184	GM12878	blood:	n/a	n/a
12	ATF2	chr1:160725300-160727000	GM12878	blood:	n/a	n/a
13	ATF2	chr1:160682380-160683294	GM12878	blood:	n/a	n/a
14	ATF2	chr1:160696200-160697225	GM12878	blood:	n/a	n/a
15	ATF2	chr1:160737123-160737684	GM12878	blood:	n/a	n/a
16	ATF2	chr1:160677062-160678428	GM12878	blood:	n/a	n/a
17	ATF2	chr1:160701763-160702291	GM12878	blood:	n/a	n/a
18	ATF2	chr1:160710742-160711441	GM12878	blood:	n/a	n/a
19	ATF2	chr1:160737720-160738489	GM12878	blood:	n/a	n/a
20	ATF2	chr1:160766887-160767734	GM12878	blood:	n/a	n/a
21	ATF2	chr1:160759317-160760285	GM12878	blood:	n/a	n/a
22	ATF2	chr1:160708640-160709396	GM12878	blood:	n/a	n/a
23	ATF2	chr1:160721243-160722029	GM12878	blood:	n/a	n/a
24	ATF2	chr1:160678525-160679568	GM12878	blood:	n/a	n/a
25	ATF2	chr1:160751780-160752499	GM12878	blood:	n/a	n/a
26	ATF2	chr1:160680144-160682239	GM12878	blood:	n/a	n/a
27	ATF2	chr1:160677585-160678898	GM12878	blood:	n/a	n/a
28	ATF2	chr1:160765576-160766188	GM12878	blood:	n/a	n/a
29	ATF2	chr1:160708699-160709419	GM12878	blood:	n/a	n/a
30	ATF2	chr1:160726024-160726514	GM12878	blood:	n/a	n/a
31	ATF2	chr1:160751696-160752491	GM12878	blood:	n/a	n/a
32	ATF2	chr1:160759300-160760405	GM12878	blood:	n/a	n/a
33	ATF2	chr1:160721206-160721584	GM12878	blood:	n/a	n/a
34	ATF2	chr1:160680967-160682290	GM12878	blood:	n/a	n/a
35	ATF2	chr1:160696360-160697411	GM12878	blood:	n/a	n/a
36	ATF2	chr1:160714110-160714800	GM12878	blood:	n/a	n/a
37	ATF2	chr1:160737984-160738550	GM12878	blood:	n/a	n/a
38	ATF2	chr1:160724102-160724682	GM12878	blood:	n/a	n/a
39	ATF2	chr1:160682367-160683283	GM12878	blood:	n/a	n/a
40	ATF2	chr1:160766987-160767620	GM12878	blood:	n/a	n/a
41	BACH1	chr1:160695839-160696897	K562	blood:	n/a	n/a
42	BACH1	chr1:160718084-160718152	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr1:160695945-160696931	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr1:160747472-160747522	K562	blood:	n/a	n/a
45	BACH1	chr1:160738062-160738176	K562	blood:	n/a	n/a
46	BATF	chr1:160721310-160721598	GM12878	blood:	n/a	chr1:160721439-160721450
47	BATF	chr1:160760126-160760469	GM12878	blood:	n/a	n/a
48	BATF	chr1:160759556-160760463	GM12878	blood:	n/a	n/a
49	BATF	chr1:160696014-160696268	GM12878	blood:	n/a	chr1:160696131-160696142
50	BATF	chr1:160751941-160752498	GM12878	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:160765225-160765275	ProgFib	skin:	n/a
2	chr1:160764791-160764841	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:160765225-160765275	ProgFib	skin:	n/a
4	chr1:160764791-160764841	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:160707626-160707676	AG09319	gingival:	n/a
6	chr1:160677398-160677448	HEEpiC	esophagus:	n/a
7	chr1:160764664-160764714	HMEC	breast:	n/a
8	chr1:160682641-160682691	HCF	heart:	n/a
9	chr1:160682655-160682705	AG10803	skin:	n/a
10	chr1:160677398-160677448	BE2_C	brain:	n/a
11	chr1:160682008-160682058	PrEC	prostate:	n/a
12	chr1:160765349-160765399	HUVEC	blood vessel:	n/a
13	chr1:160681760-160681810	AG10803	skin:	n/a
14	chr1:160696468-160696518	NH-A	brain:	n/a
15	chr1:160764791-160764841	GM12892	blood:	n/a
16	chr1:160708990-160709040	CMK	blood:	n/a
17	chr1:160681404-160681454	HRCEpiC	kidney:	n/a
18	chr1:160764791-160764841	HRCEpiC	kidney:	n/a
19	chr1:160681404-160681454	LNCaP	prostate:	n/a
20	chr1:160709239-160709289	AG04450	lung:	fetal
21	chr1:160707626-160707676	Hepatocyte	liver:	n/a
22	chr1:160707626-160707676	HCM	heart:	n/a
23	chr1:160682008-160682058	NB4	blood:	n/a
24	chr1:160682641-160682691	GM12891	blood:	n/a
25	chr1:160708987-160709037	HIPEpiC	eye:	n/a
26	chr1:160681404-160681454	GM19239	blood:	n/a
27	chr1:160707626-160707676	U87	brain:	n/a
28	chr1:160696468-160696518	ovcar-3	ovarian:	n/a
29	chr1:160708990-160709040	GM12891	blood:	n/a
30	chr1:160764664-160764714	AG04449	skin:	fetal
31	chr1:160681404-160681454	ProgFib	skin:	n/a
32	chr1:160708990-160709040	HIPEpiC	eye:	n/a
33	chr1:160764791-160764841	ECC-1	luminal epithelium:	n/a
34	chr1:160681530-160681580	AG10803	skin:	n/a
35	chr1:160677398-160677448	PFSK-1	brain:	n/a
36	chr1:160696468-160696518	Caco-2	colon:	n/a
37	chr1:160765805-160765855	MCF-7	breast:	n/a
38	chr1:160708990-160709040	HRCEpiC	kidney:	n/a
39	chr1:160696468-160696518	K562	blood:	n/a
40	chr1:160696468-160696518	PANC-1	pancreas:	n/a
41	chr1:160682655-160682705	HRCEpiC	kidney:	n/a
42	chr1:160709239-160709289	GM19239	blood:	n/a
43	chr1:160677398-160677448	HPAEpiC	pulmonary alveolar:	n/a
44	chr1:160764791-160764841	SKMC	muscle:	n/a
45	chr1:160707626-160707676	HCPEpiC	choroid plexus:	n/a
46	chr1:160709239-160709289	AG04449	skin:	fetal
47	chr1:160766535-160766585	HUVEC	blood vessel:	n/a
48	chr1:160708987-160709037	HRPEpiC	eye:	n/a
49	chr1:160764664-160764714	HEEpiC	esophagus:	n/a
50	chr1:160682008-160682058	HRE	kidney:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:160716030..160718283-chr1:161088613..161090888,2	K562	blood:
2	chr1:160690243..160693305-chr1:160693900..160696134,4	K562	blood:
3	chr1:160696717..160697289-chr1:160775794..160776301,2	MCF-7	breast:
4	chr1:160655760..160657407-chr1:160694604..160697508,2	K562	blood:
5	chr1:160696988..160699341-chr1:160704707..160707105,2	K562	blood:
6	chr1:160651048..160651650-chr1:160749835..160750519,2	MCF-7	breast:
7	chr1:160750574..160752770-chr1:160766750..160768788,2	K562	blood:
8	chr1:160696267..160696909-chr1:160747036..160748093,3	MCF-7	breast:
9	chr1:160694517..160696075-chr1:161130114..161133066,2	K562	blood:
10	chr1:160700952..160703629-chr1:160706878..160709001,2	K562	blood:
11	chr1:160688028..160690024-chr1:160692896..160694855,2	K562	blood:
12	chr1:160690243..160693305-chr1:160693900..160696134,4	K562	blood:
13	chr1:160746479..160747897-chr1:160799771..160800945,11	MCF-7	breast:
14	chr1:160750002..160750637-chr1:160923747..160924410,3	K562	blood:
15	chr1:160687206..160690024-chr1:160693355..160695272,2	K562	blood:
16	chr1:160691411..160693305-chr1:160694480..160695995,2	K562	blood:
17	chr1:160696348..160697194-chr1:160749478..160750155,4	MCF-7	breast:
18	chr1:160702268..160704148-chr1:160730105..160732611,2	K562	blood:
19	chr1:160695237..160697452-chr1:160699542..160701287,2	K562	blood:
20	chr1:160685213..160686725-chr1:160693459..160696059,2	K562	blood:
21	chr1:160685213..160686725-chr1:160693459..160696059,2	K562	blood:
22	chr1:160702552..160704615-chr1:160709691..160711746,2	K562	blood:
23	chr1:160696061..160696740-chr1:160749784..160750511,2	K562	blood:
24	chr1:160685197..160686725-chr1:160693459..160695473,2	K562	blood:
25	chr1:160720732..160722587-chr1:160809717..160812109,2	K562	blood:
26	chr1:160675860..160678038-chr1:160680233..160682705,2	K562	blood:
27	chr1:160750735..160751494-chr1:160800341..160800905,2	MCF-7	breast:
28	chr1:160696688..160697282-chr1:160919145..160920040,2	MCF-7	breast:
29	chr1:160696639..160698264-chr1:160702633..160704660,2	K562	blood:
30	chr1:160696988..160699341-chr1:160704707..160707105,2	K562	blood:
31	chr1:160695237..160697452-chr1:160699542..160701287,2	K562	blood:
32	chr1:160697110..160698910-chr1:160790378..160792048,2	K562	blood:
33	chr1:160696322..160697227-chr1:160923764..160924643,4	K562	blood:
34	chr1:160714727..160717750-chr1:160718869..160722108,3	K562	blood:
35	chr1:160688028..160690024-chr1:160692896..160694855,2	K562	blood:
36	chr1:160694517..160696114-chr1:161079966..161082849,2	K562	blood:
37	chr1:160702552..160704615-chr1:160709691..160711746,2	K562	blood:
38	chr1:160749523..160750339-chr1:160920946..160921479,2	MCF-7	breast:
39	chr1:160650431..160651343-chr1:160737795..160738367,2	K562	blood:
40	chr1:160746903..160747909-chr1:160800008..160800911,3	MCF-7	breast:
41	chr1:160696305..160697248-chr1:160799446..160801004,10	MCF-7	breast:
42	chr1:160651015..160651888-chr1:160749249..160750123,3	K562	blood:
43	chr1:160672794..160675348-chr1:161062304..161065279,2	K562	blood:
44	chr1:160694360..160696843-chr1:161013726..161016011,3	K562	blood:
45	chr1:160748693..160751200-chr1:160804767..160806895,2	MCF-7	breast:
46	chr1:160694456..160696048-chr1:161143859..161146708,2	K562	blood:
47	chr1:160696639..160697244-chr1:160923617..160924622,3	MCF-7	breast:
48	chr1:160750574..160752770-chr1:160766750..160768788,2	K562	blood:
49	chr1:160696348..160697194-chr1:160749478..160750155,4	MCF-7	breast:
50	chr1:160696639..160698264-chr1:160702633..160704660,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLAMF7-1	chr1:160745416-160746080	ENSG00000250225
2	lnc-SLAMF7-7	chr1:160766001-160766101	NONHSAT007076
3	lnc-SLAMF7-3	chr1:160709302-160709540	NONHSAT007074
4	lnc-SLAMF7-5	chr1:160705345-160705904	NONHSAT007073
5	lnc-SLAMF7-3	chr1:160709037-160709146	NONHSAT007074
6	lnc-SLAMF7-4	chr1:160720213-160722038	NONHSAT007075
7	lnc-SLAMF7-3	chr1:160717984-160718158	NONHSAT007074
8	lnc-SLAMF7-4	chr1:160722896-160724611	NONHSAT007075
9	lnc-SLAMF7-1	chr1:160743317-160745088	ENSG00000250225

No data

Variant related genes	Relation type
SLAMF7	TF binding region
CD48	TF binding region
LY9	TF binding region
SLAMF7	CpG island
CD48	CpG island
LY9	CpG island
ENSG00000122224	chromatin interactions
ENSG00000158850	chromatin interactions
ENSG00000158764	chromatin interactions
ENSG00000143258	chromatin interactions
ENSG00000026751	chromatin interactions
ENSG00000158773	chromatin interactions
ENSG00000117091	chromatin interactions
ENSG00000158793	chromatin interactions
PTEN	miRNA target sites
ATL2	miRNA target sites

Extended variants
information (count: 3904 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:3904 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147165391	chr1:160671179-160671180	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375199524	chr1:160671215-160671216	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115744673	chr1:160671235-160671236	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138751495	chr1:160671248-160671249	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535664	chr1:160671286-160671287	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546556578	chr1:160671287-160671288	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535668	chr1:160671290-160671291	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567062211	chr1:160671309-160671310	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538926763	chr1:160671326-160671327	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544210354	chr1:160671371-160671372	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561061688	chr1:160671400-160671401	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115141229	chr1:160671420-160671421	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73014174	chr1:160671467-160671468	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566590275	chr1:160671533-160671534	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369975051	chr1:160671564-160671565	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367632405	chr1:160671575-160671576	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532174956	chr1:160671638-160671639	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186039251	chr1:160671651-160671652	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552083871	chr1:160671678-160671679	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189713295	chr1:160671680-160671681	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11577973	chr1:160671695-160671696	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569567	chr1:160671700-160671701	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12402516	chr1:160671706-160671707	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555045948	chr1:160671712-160671713	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574834928	chr1:160671770-160671771	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369513437	chr1:160671773-160671774	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533993537	chr1:160671789-160671790	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373237675	chr1:160671810-160671811	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554227427	chr1:160671846-160671847	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571287	chr1:160671863-160671864	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7521591	chr1:160671897-160671898	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556930426	chr1:160671907-160671908	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139915387	chr1:160671916-160671917	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544230993	chr1:160671959-160671960	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560682720	chr1:160672026-160672027	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs182706212	chr1:160672065-160672066	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs143429226	chr1:160672071-160672072	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs186989885	chr1:160672084-160672085	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs146570934	chr1:160672089-160672090	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs552853703	chr1:160672101-160672102	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs551920894	chr1:160672115-160672116	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs573326	chr1:160672126-160672127	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531452915	chr1:160672170-160672171	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs116673185	chr1:160672173-160672174	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs376173122	chr1:160672203-160672204	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs534194445	chr1:160672219-160672220	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs74407294	chr1:160672230-160672231	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs141316105	chr1:160672240-160672241	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs540052826	chr1:160672259-160672260	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs59156523	chr1:160672263-160672264	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160655200-160673600	Weak transcription	Spleen	Spleen
2	chr1:160656200-160672000	Weak transcription	Dnd41	blood
3	chr1:160660400-160671200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:160660400-160671200	Weak transcription	Thymus	Thymus
5	chr1:160660400-160671600	Weak transcription	Primary B cells from cord blood	blood
6	chr1:160662000-160671200	Weak transcription	Fetal Thymus	thymus
7	chr1:160662200-160672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:160662400-160672000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:160666000-160673800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:160667400-160672800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:160668200-160671400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:160668600-160673000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:160669200-160671200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:160669200-160672200	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:160669200-160673400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:160669200-160674400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:160669200-160674800	Genic enhancers	Primary T cells from cord blood	blood
18	chr1:160669200-160675800	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr1:160669400-160671400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:160669800-160672400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:160669800-160673600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr1:160669800-160674200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:160670000-160671600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:160670400-160671200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:160670400-160676600	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr1:160670800-160671600	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr1:160671000-160671400	Strong transcription	GM12878-XiMat	blood
28	chr1:160671000-160672400	Enhancers	Small Intestine	intestine
29	chr1:160671000-160673800	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:160671000-160675600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:160671200-160672000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
32	chr1:160671200-160672200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:160671200-160673400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:160671200-160673400	Strong transcription	Thymus	Thymus
35	chr1:160671200-160673600	Strong transcription	Fetal Thymus	thymus
36	chr1:160671200-160675400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr1:160671400-160671800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:160671400-160674200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:160671400-160675800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr1:160671600-160672000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:160671600-160672200	Genic enhancers	Primary B cells from cord blood	blood
42	chr1:160671600-160673200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:160671600-160673800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
44	chr1:160671800-160672000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:160672000-160672200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:160672000-160672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:160672000-160672200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr1:160672000-160672200	Strong transcription	Dnd41	blood
49	chr1:160672000-160672600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:160672000-160673200	Genic enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links