Variant report

Variant	nsv517534
Chromosome Location	chr22:31977594-32024980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1415)
CpG islands
(count:489)
Chromatin interactive
region (count:85)
LncRNA
region (count:27)
Mature miRNA
region (count: 2)
miRNA target
sites (count:3)

(count:1415 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:31980671-31980891	K562	blood:	n/a	n/a
2	ARID3A	chr22:31982203-31982906	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:31982299-31982647	K562	blood:	n/a	n/a
4	ARID3A	chr22:31981496-31981872	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:31981145-31981838	K562	blood:	n/a	n/a
6	ARID3A	chr22:31980098-31980502	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:31985050-31985635	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:31999123-31999446	K562	blood:	n/a	n/a
9	ATF1	chr22:31999155-31999527	K562	blood:	n/a	n/a
10	ATF2	chr22:32012203-32012737	GM12878	blood:	n/a	n/a
11	ATF2	chr22:31978463-31978865	GM12878	blood:	n/a	n/a
12	ATF2	chr22:31978468-31978850	GM12878	blood:	n/a	n/a
13	BATF	chr22:31982695-31982970	GM12878	blood:	n/a	n/a
14	BATF	chr22:31978465-31978783	GM12878	blood:	n/a	n/a
15	BATF	chr22:31978255-31978866	GM12878	blood:	n/a	n/a
16	BATF	chr22:32005495-32005727	GM12878	blood:	n/a	n/a
17	BCL11A	chr22:31978425-31978790	GM12878	blood:	n/a	n/a
18	BCL11A	chr22:31978548-31978795	GM12878	blood:	n/a	n/a
19	BCL3	chr22:32013784-32014988	GM12878	blood:	n/a	n/a
20	BCL3	chr22:32016902-32017368	GM12878	blood:	n/a	n/a
21	BCL3	chr22:32016941-32017460	GM12878	blood:	n/a	n/a
22	BCL3	chr22:32017701-32017981	GM12878	blood:	n/a	n/a
23	BCL3	chr22:32018004-32018317	GM12878	blood:	n/a	n/a
24	BCL3	chr22:32017464-32017856	GM12878	blood:	n/a	n/a
25	BCL3	chr22:32012233-32012908	GM12878	blood:	n/a	n/a
26	BCL3	chr22:32015300-32016448	GM12878	blood:	n/a	n/a
27	BCLAF1	chr22:32012185-32012725	GM12878	blood:	n/a	n/a
28	BHLHE40	chr22:32021885-32021930	K562	blood:	n/a	n/a
29	BHLHE40	chr22:31999174-31999407	K562	blood:	n/a	n/a
30	BHLHE40	chr22:32012380-32012640	GM12878	blood:	n/a	n/a
31	BHLHE40	chr22:32022412-32022913	K562	blood:	n/a	n/a
32	BHLHE40	chr22:32023280-32023462	K562	blood:	n/a	n/a
33	BHLHE40	chr22:31978445-31978773	GM12878	blood:	n/a	n/a
34	CBX3	chr22:32022498-32023013	K562	blood:	n/a	n/a
35	CCNT2	chr22:32021680-32022084	K562	blood:	n/a	n/a
36	CCNT2	chr22:31999170-31999459	K562	blood:	n/a	chr22:31999276-31999296
37	CCNT2	chr22:32016890-32016983	K562	blood:	n/a	n/a
38	CCNT2	chr22:31981038-31981609	K562	blood:	n/a	chr22:31981357-31981377 chr22:31981312-31981332
39	CCNT2	chr22:32022369-32023014	K562	blood:	n/a	n/a
40	CEBPB	chr22:31982360-31982633	K562	blood:	n/a	n/a
41	CEBPB	chr22:31981330-31981853	MCF-7	breast:	n/a	chr22:31981552-31981565
42	CEBPB	chr22:31978493-31978768	GM12878	blood:	n/a	chr22:31978631-31978642
43	CEBPB	chr22:31982108-31982792	MCF-7	breast:	n/a	n/a
44	CEBPB	chr22:31981472-31981655	A549	lung:	n/a	chr22:31981552-31981565
45	CEBPB	chr22:31978561-31978722	Hela-S3	cervix:	n/a	chr22:31978631-31978642
46	CEBPB	chr22:31985397-31985641	HepG2	liver:	n/a	n/a
47	CEBPB	chr22:32022644-32023005	HepG2	liver:	n/a	chr22:32022901-32022914
48	CEBPB	chr22:31982015-31982795	MCF-7	breast:	n/a	n/a
49	CEBPB	chr22:32022484-32022994	K562	blood:	n/a	chr22:32022901-32022914
50	CEBPB	chr22:31978539-31978710	HepG2	liver:	n/a	chr22:31978631-31978642

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32014422-32014472	HUVEC	blood vessel:	n/a
2	chr22:32014422-32014472	HUVEC	blood vessel:	n/a
3	chr22:32021249-32021299	Hela-S3	cervix:	n/a
4	chr22:32022314-32022364	GM06990	blood:	n/a
5	chr22:32014422-32014472	AG10803	skin:	n/a
6	chr22:32015030-32015080	AG04449	skin:	fetal
7	chr22:32007224-32007274	AG04449	skin:	fetal
8	chr22:32014422-32014472	ECC-1	luminal epithelium:	n/a
9	chr22:31998253-31998303	NHBE	bronchial:	n/a
10	chr22:32014422-32014472	NHBE	bronchial:	n/a
11	chr22:31998253-31998303	HCM	heart:	n/a
12	chr22:32014422-32014472	NB4	blood:	n/a
13	chr22:32022314-32022364	HIPEpiC	eye:	n/a
14	chr22:32022314-32022364	GM12891	blood:	n/a
15	chr22:31998253-31998303	AG10803	skin:	n/a
16	chr22:32007224-32007274	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:32014422-32014472	GM06990	blood:	n/a
18	chr22:32015030-32015080	SAEC	small airway:	n/a
19	chr22:32007224-32007274	HCPEpiC	choroid plexus:	n/a
20	chr22:32015030-32015080	Hela-S3	cervix:	n/a
21	chr22:32024802-32024852	MCF10A-Er-Src	breast:	n/a
22	chr22:32021249-32021299	HL-60	blood:	n/a
23	chr22:32024802-32024852	NB4	blood:	n/a
24	chr22:32022314-32022364	T-47D	breast:	n/a
25	chr22:32007224-32007274	U87	brain:	n/a
26	chr22:32021249-32021299	HRCEpiC	kidney:	n/a
27	chr22:32014422-32014472	HPAEpiC	pulmonary alveolar:	n/a
28	chr22:32024802-32024852	HNPCEpiC	eye:	n/a
29	chr22:32024802-32024852	ovcar-3	ovarian:	n/a
30	chr22:32014422-32014472	BE2_C	brain:	n/a
31	chr22:31998253-31998303	HNPCEpiC	eye:	n/a
32	chr22:32024802-32024852	Hela-S3	cervix:	n/a
33	chr22:32015384-32015434	PANC-1	pancreas:	n/a
34	chr22:32014422-32014472	HNPCEpiC	eye:	n/a
35	chr22:32014422-32014472	Caco-2	colon:	n/a
36	chr22:32015384-32015434	AG04450	lung:	fetal
37	chr22:32015384-32015434	BJ	skin:	n/a
38	chr22:32022314-32022364	PFSK-1	brain:	n/a
39	chr22:32022314-32022364	HNPCEpiC	eye:	n/a
40	chr22:32014422-32014472	BJ	skin:	n/a
41	chr22:31998253-31998303	HepG2	liver:	n/a
42	chr22:32021249-32021299	PrEC	prostate:	n/a
43	chr22:32024802-32024852	AG09319	gingival:	n/a
44	chr22:32021249-32021299	HRPEpiC	eye:	n/a
45	chr22:32015030-32015080	PFSK-1	brain:	n/a
46	chr22:32021249-32021299	NB4	blood:	n/a
47	chr22:32015384-32015434	HRE	kidney:	n/a
48	chr22:32015384-32015434	SK-N-SH	brain:	n/a
49	chr22:32014422-32014472	Jurkat	blood:	n/a
50	chr22:32007224-32007274	LNCaP	prostate:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:32017352..32019493-chr22:32020509..32023823,4	MCF-7	breast:
2	chr22:31980900..31983627-chr22:32021612..32023402,2	K562	blood:
3	22:31829733-31836635..22:31978142-31983723	GM12878	blood:
4	chr22:31981120..31983681-chr22:31997559..32000083,2	MCF-7	breast:
5	chr22:31998415..32000833-chr22:32004854..32006802,2	MCF-7	breast:
6	chr1:11967958..11969802-chr22:32000231..32001751,4	MCF-7	breast:
7	chr11:130786311..130786914-chr22:32021183..32021703,2	K562	blood:
8	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
9	chr22:31981120..31983681-chr22:31997559..32000083,2	MCF-7	breast:
10	chr22:32000740..32002480-chr22:32006073..32008984,2	K562	blood:
11	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
12	chr22:31981433..31984029-chr22:31998906..32000413,2	MCF-7	breast:
13	chr22:31960988..31962788-chr22:32015387..32017206,2	K562	blood:
14	chr22:32022238..32024391-chr22:32055761..32058273,2	MCF-7	breast:
15	chr22:31971494..31974230-chr22:31978684..31980749,2	K562	blood:
16	chr22:32004710..32007352-chr22:32026713..32029250,2	MCF-7	breast:
17	chr22:31892695..31894776-chr22:32016253..32018919,2	K562	blood:
18	22:32012966-32043914..22:32513817-32522138	K562	blood:
19	22:31803954-31807204..22:32011472-32012966	K562	blood:
20	chr22:32010251..32014501-chr22:32014940..32019879,7	MCF-7	breast:
21	22:32012966-32043914..22:32529813-32538538	K562	blood:
22	chr22:31976205..31978536-chr22:31989845..31992334,2	MCF-7	breast:
23	22:31836635-31847259..22:31995181-31997770	Hela-S3	cervix:
24	22:32012966-32043914..22:32360288-32405313	K562	blood:
25	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
26	chr1:11968258..11968758-chr22:31999730..32000251,2	MCF-7	breast:
27	chr22:31982271..31984848-chr22:32044660..32046890,2	MCF-7	breast:
28	chr22:31736945..31739713-chr22:32022907..32024552,2	MCF-7	breast:
29	chr22:32005385..32007517-chr22:32015792..32017582,2	MCF-7	breast:
30	chr22:31974878..31977685-chr22:31979541..31981630,2	K562	blood:
31	chr22:31978403..31980751-chr22:32010248..32012118,2	MCF-7	breast:
32	22:31836635-31847259..22:32011472-32012966	GM12878	blood:
33	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
34	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:
35	chr22:31980240..31982872-chr22:32023554..32027638,4	MCF-7	breast:
36	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
37	chr22:31996962..31998661-chr22:32003340..32005978,2	K562	blood:
38	chr22:31995326..31999503-chr22:32025440..32027156,3	MCF-7	breast:
39	chr22:32014336..32015950-chr22:32021359..32023068,2	MCF-7	breast:
40	chr22:32007884..32012411-chr22:32016194..32020167,5	MCF-7	breast:
41	chr22:31996880..31998541-chr22:31999926..32002535,2	K562	blood:
42	chr22:32000416..32002977-chr22:32011227..32013739,3	K562	blood:
43	chr22:32014846..32016763-chr22:32018159..32020204,2	MCF-7	breast:
44	22:32012966-32043914..22:32665993-32670527	K562	blood:
45	chr22:31999831..32002168-chr22:32013735..32015818,2	K562	blood:
46	22:32012966-32043914..22:32846948-32860159	K562	blood:
47	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
48	chr22:31978403..31980751-chr22:32010248..32012118,2	MCF-7	breast:
49	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:
50	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRG1-1	chr22:31979861-31979958	NONHSAT084900
2	lnc-PRR14L-1	chr22:32023989-32024196	NONHSAT084910
3	lnc-PRR14L-1	chr22:32024839-32024967	NONHSAT084910
4	lnc-PRR14L-1	chr22:32021864-32022002	NONHSAT084911
5	lnc-PRR14L-1	chr22:32024839-32024967	NONHSAT084911
6	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084907
7	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084906
8	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084909
9	lnc-PRR14L-1	chr22:32021808-32022002	NONHSAT084910
10	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084907
11	lnc-DRG1-1	chr22:31979861-31979955	NONHSAT084901
12	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084907
13	lnc-DRG1-3	chr22:32007752-32007826	NONHSAT084904
14	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084906
15	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084907
16	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084909
17	lnc-DRG1-5	chr22:32014198-32014212	NONHSAT084906
18	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084907
19	lnc-DRG1-5	chr22:32010153-32010846	NONHSAT084907
20	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084909
21	lnc-DRG1-5	chr22:32010775-32010846	NONHSAT084906
22	lnc-DRG1-3	chr22:32007985-32008428	NONHSAT084904
23	lnc-DRG1-5	chr22:32010372-32011265	NONHSAT084909
24	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084906
25	lnc-DRG1-5	chr22:32009821-32009841	NONHSAT084906
26	lnc-DRG1-1	chr22:31981054-31981112	NONHSAT084900
27	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084909

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7109-3p	chr22:32017459-32017480	MIMAT0028116
hsa-miR-7109-5p	chr22:32017492-32017512	MIMAT0028115

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PISD	hsa-miR-16-5p	chr22:32014778-32014771
2	PISD	hsa-miR-16-5p	chr22:32015242-32015263
3	PISD	hsa-miR-16-5p	chr22:32014772-32014796

Variant related genes	Relation type
SFI1	TF binding region
PISD	TF binding region
SFI1	CpG island
PISD	CpG island
ENSG00000120451	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000229169	chromatin interactions
ENSG00000224050	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000238910	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000230866	chromatin interactions

Extended variants
information (count: 2142 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2142 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs738702	chr22:31977594-31977595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370336579	chr22:31977621-31977622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182137200	chr22:31977744-31977745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs8142002	chr22:31977755-31977756	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569141939	chr22:31977756-31977757	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531357328	chr22:31977765-31977766	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186364225	chr22:31977775-31977776	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374796624	chr22:31977786-31977787	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551598581	chr22:31977818-31977819	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546249011	chr22:31977821-31977822	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs5998048	chr22:31977830-31977831	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571639995	chr22:31977842-31977843	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534056685	chr22:31977854-31977855	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2387	chr22:31977874-31977875	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567289693	chr22:31977878-31977879	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536256850	chr22:31977904-31977905	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs556535192	chr22:31977918-31977919	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs576721702	chr22:31977919-31977920	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs5753703	chr22:31977923-31977924	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs191838253	chr22:31977932-31977933	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs559143312	chr22:31977933-31977934	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs5753704	chr22:31977988-31977989	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs5753705	chr22:31978028-31978029	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183705700	chr22:31978032-31978033	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142678927	chr22:31978096-31978097	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558294086	chr22:31978100-31978101	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575477588	chr22:31978118-31978119	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs5753706	chr22:31978127-31978128	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112061357	chr22:31978134-31978135	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376606512	chr22:31978189-31978190	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201503062	chr22:31978190-31978191	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs5753707	chr22:31978192-31978193	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs8142228	chr22:31978208-31978209	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4317032	chr22:31978222-31978223	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370398421	chr22:31978224-31978225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs13053421	chr22:31978225-31978226	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373856541	chr22:31978226-31978227	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76468909	chr22:31978228-31978229	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs56150362	chr22:31978253-31978254	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs182816903	chr22:31978259-31978260	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs372778314	chr22:31978267-31978268	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs138135028	chr22:31978273-31978274	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs561256147	chr22:31978278-31978279	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs531672288	chr22:31978293-31978294	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs551265737	chr22:31978318-31978319	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs7292915	chr22:31978331-31978332	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187101902	chr22:31978377-31978378	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs547446091	chr22:31978383-31978384	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs1114255	chr22:31978412-31978413	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs567426955	chr22:31978438-31978439	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
4	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
5	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:31941400-31981400	Weak transcription	NHEK	skin
9	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
12	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
13	chr22:31949600-31977800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr22:31957200-31977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:31957800-31979600	Weak transcription	K562	blood
18	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
21	chr22:31965000-31977600	Strong transcription	Primary T cells from cord blood	blood
22	chr22:31965200-31977600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:31967000-31977600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
27	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr22:31970400-31977800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31970600-31980000	Weak transcription	Fetal Lung	lung
30	chr22:31970600-31980600	Weak transcription	Brain Angular Gyrus	brain
31	chr22:31970600-31980800	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
33	chr22:31970800-31979400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr22:31970800-31979800	Weak transcription	Osteobl	bone
35	chr22:31971400-31982000	Weak transcription	Gastric	stomach
36	chr22:31971600-31981200	Weak transcription	HMEC	breast
37	chr22:31971800-31979800	Weak transcription	NH-A	brain
38	chr22:31971800-31982000	Weak transcription	Brain Substantia Nigra	brain
39	chr22:31972000-31978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:31972000-31979600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:31972000-31979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:31972000-31979800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr22:31972000-31980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:31972000-31981200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:31972000-31981600	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:31972000-31982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:31972200-31979600	Weak transcription	NHLF	lung
48	chr22:31973600-31979600	Weak transcription	HSMM	muscle
49	chr22:31973800-31979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:31973800-31980600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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