Variant report

Variant	nsv829176
Chromosome Location	chr22:31998223-32029556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1747)
CpG islands
(count:1160)
Chromatin interactive
region (count:79)
LncRNA
region (count:27)
Mature miRNA
region (count: 2)
miRNA target
sites (count:3)

(count:1747 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:31999123-31999446	K562	blood:	n/a	n/a
2	ATF1	chr22:31999155-31999527	K562	blood:	n/a	n/a
3	ATF2	chr22:32026350-32026745	GM12878	blood:	n/a	n/a
4	ATF2	chr22:32012203-32012737	GM12878	blood:	n/a	n/a
5	BACH1	chr22:32026539-32027264	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr22:32005495-32005727	GM12878	blood:	n/a	n/a
7	BCL3	chr22:32018004-32018317	GM12878	blood:	n/a	n/a
8	BCL3	chr22:32017701-32017981	GM12878	blood:	n/a	n/a
9	BCL3	chr22:32015300-32016448	GM12878	blood:	n/a	n/a
10	BCL3	chr22:32016902-32017368	GM12878	blood:	n/a	n/a
11	BCL3	chr22:32017464-32017856	GM12878	blood:	n/a	n/a
12	BCL3	chr22:32013784-32014988	GM12878	blood:	n/a	n/a
13	BCL3	chr22:32025122-32025576	GM12878	blood:	n/a	n/a
14	BCL3	chr22:32012233-32012908	GM12878	blood:	n/a	n/a
15	BCL3	chr22:32016941-32017460	GM12878	blood:	n/a	n/a
16	BCLAF1	chr22:32026311-32026773	GM12878	blood:	n/a	n/a
17	BCLAF1	chr22:32026266-32026920	GM12878	blood:	n/a	chr22:32026898-32026907
18	BCLAF1	chr22:32012185-32012725	GM12878	blood:	n/a	n/a
19	BHLHE40	chr22:32022412-32022913	K562	blood:	n/a	n/a
20	BHLHE40	chr22:32026748-32027300	HepG2	liver:	n/a	n/a
21	BHLHE40	chr22:32021885-32021930	K562	blood:	n/a	n/a
22	BHLHE40	chr22:32026374-32027490	K562	blood:	n/a	n/a
23	BHLHE40	chr22:32027010-32027325	GM12878	blood:	n/a	n/a
24	BHLHE40	chr22:31999174-31999407	K562	blood:	n/a	n/a
25	BHLHE40	chr22:32012380-32012640	GM12878	blood:	n/a	n/a
26	BHLHE40	chr22:32023280-32023462	K562	blood:	n/a	n/a
27	CBX3	chr22:32022498-32023013	K562	blood:	n/a	n/a
28	CCNT2	chr22:32026054-32027649	K562	blood:	n/a	chr22:32026897-32026906
29	CCNT2	chr22:32016890-32016983	K562	blood:	n/a	n/a
30	CCNT2	chr22:32022369-32023014	K562	blood:	n/a	n/a
31	CCNT2	chr22:31999170-31999459	K562	blood:	n/a	chr22:31999276-31999296
32	CCNT2	chr22:32021680-32022084	K562	blood:	n/a	n/a
33	CEBPB	chr22:32022484-32022994	K562	blood:	n/a	chr22:32022901-32022914
34	CEBPB	chr22:32018078-32018121	Hela-S3	cervix:	n/a	chr22:32018093-32018104
35	CEBPB	chr22:32022428-32023100	K562	blood:	n/a	chr22:32022901-32022914
36	CEBPB	chr22:32018010-32018154	HepG2	liver:	n/a	chr22:32018093-32018104
37	CEBPB	chr22:32022644-32023005	HepG2	liver:	n/a	chr22:32022901-32022914
38	CEBPB	chr22:31999075-31999420	K562	blood:	n/a	n/a
39	CEBPD	chr22:31999029-31999538	K562	blood:	n/a	n/a
40	CEBPD	chr22:32022458-32022994	K562	blood:	n/a	chr22:32022902-32022913
41	CEBPD	chr22:31999001-31999504	K562	blood:	n/a	n/a
42	CEBPD	chr22:32022441-32023094	K562	blood:	n/a	chr22:32022902-32022913
43	CHD1	chr22:32026981-32027381	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr22:32026128-32026244	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr22:32026241-32026737	GM12878	blood:	n/a	n/a
46	CHD2	chr22:32015741-32015809	K562	blood:	n/a	n/a
47	CHD2	chr22:32023511-32023600	HepG2	liver:	n/a	n/a
48	CHD2	chr22:32021903-32022098	K562	blood:	n/a	n/a
49	CHD2	chr22:32021756-32022076	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr22:32026114-32027119	HepG2	liver:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31998253-31998303	HEEpiC	esophagus:	n/a
2	chr22:31998253-31998303	HEEpiC	esophagus:	n/a
3	chr22:32026941-32026991	AG04449	skin:	fetal
4	chr22:32026380-32026430	AG04449	skin:	fetal
5	chr22:32026873-32026923	HNPCEpiC	eye:	n/a
6	chr22:32021249-32021299	HRPEpiC	eye:	n/a
7	chr22:32026902-32026952	SKMC	muscle:	n/a
8	chr22:32027605-32027655	Hela-S3	cervix:	n/a
9	chr22:32014422-32014472	PANC-1	pancreas:	n/a
10	chr22:32022314-32022364	GM12891	blood:	n/a
11	chr22:32022314-32022364	CMK	blood:	n/a
12	chr22:32014422-32014472	HRPEpiC	eye:	n/a
13	chr22:32026561-32026611	A549	lung:	n/a
14	chr22:32026902-32026952	ECC-1	luminal epithelium:	n/a
15	chr22:32026902-32026952	MCF-7	breast:	n/a
16	chr22:32027588-32027638	IMR90	lung:	fetal
17	chr22:32027580-32027630	GM06990	blood:	n/a
18	chr22:32014422-32014472	PrEC	prostate:	n/a
19	chr22:32027588-32027638	MCF10A-Er-Src	breast:	n/a
20	chr22:32026873-32026923	HMEC	breast:	n/a
21	chr22:32026873-32026923	HAEpiC	amniotic membrane:	n/a
22	chr22:32026941-32026991	Hela-S3	cervix:	n/a
23	chr22:32015030-32015080	SAEC	small airway:	n/a
24	chr22:32026916-32026966	GM12891	blood:	n/a
25	chr22:32026873-32026923	HIPEpiC	eye:	n/a
26	chr22:32015384-32015434	HepG2	liver:	n/a
27	chr22:32022314-32022364	T-47D	breast:	n/a
28	chr22:32014422-32014472	Hepatocyte	liver:	n/a
29	chr22:32026873-32026923	HEEpiC	esophagus:	n/a
30	chr22:32026975-32027025	HUVEC	blood vessel:	n/a
31	chr22:32027605-32027655	SAEC	small airway:	n/a
32	chr22:32007224-32007274	SAEC	small airway:	n/a
33	chr22:32027580-32027630	PrEC	prostate:	n/a
34	chr22:32026941-32026991	H1-hESC	embryonic stem cell:	embryo
35	chr22:32027588-32027638	PFSK-1	brain:	n/a
36	chr22:32026902-32026952	CMK	blood:	n/a
37	chr22:32026873-32026923	GM19239	blood:	n/a
38	chr22:32024802-32024852	HPAEpiC	pulmonary alveolar:	n/a
39	chr22:32021249-32021299	HCT-116	colon:	n/a
40	chr22:32026561-32026611	HRCEpiC	kidney:	n/a
41	chr22:32015030-32015080	HEK293	kidney:	embryo
42	chr22:32027580-32027630	CMK	blood:	n/a
43	chr22:32007224-32007274	AG09309	skin:	n/a
44	chr22:32026873-32026923	NB4	blood:	n/a
45	chr22:32026380-32026430	NHBE	bronchial:	n/a
46	chr22:32026561-32026611	PANC-1	pancreas:	n/a
47	chr22:32007224-32007274	SK-N-SH_RA	brain:	n/a
48	chr22:32026902-32026952	T-47D	breast:	n/a
49	chr22:32026975-32027025	K562	blood:	n/a
50	chr22:32026975-32027025	Hepatocyte	liver:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32360288-32405313	K562	blood:
2	chr22:32007884..32012411-chr22:32016194..32020167,5	MCF-7	breast:
3	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
4	chr22:31999125..32001513-chr22:32021753..32023468,2	K562	blood:
5	chr22:32016532..32018838-chr22:32019395..32021980,2	MCF-7	breast:
6	chr22:32014846..32016763-chr22:32018159..32020204,2	MCF-7	breast:
7	chr11:130786311..130786914-chr22:32021183..32021703,2	K562	blood:
8	chr22:32025067..32026955-chr22:32148287..32151224,2	K562	blood:
9	chr22:31998415..32000833-chr22:32004854..32006802,2	MCF-7	breast:
10	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
11	chr22:32004632..32006593-chr22:32009952..32011895,2	K562	blood:
12	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
13	chr22:31796576..31798824-chr22:32026967..32029510,2	K562	blood:
14	chr22:32010251..32014501-chr22:32014940..32019879,7	MCF-7	breast:
15	chr22:31999125..32001513-chr22:32021753..32023468,2	K562	blood:
16	chr22:32025758..32028730-chr22:32031717..32035857,4	K562	blood:
17	chr22:31978403..31980751-chr22:32010248..32012118,2	MCF-7	breast:
18	chr22:32005385..32007517-chr22:32015792..32017582,2	MCF-7	breast:
19	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
20	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
21	chr22:31970602..31972211-chr22:32029166..32030723,2	K562	blood:
22	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
23	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
24	chr22:31982333..31984122-chr22:32028532..32031400,2	MCF-7	breast:
25	chr22:31892695..31894776-chr22:32016253..32018919,2	K562	blood:
26	chr1:11967958..11969802-chr22:32000231..32001751,4	MCF-7	breast:
27	chr22:31884998..31887254-chr22:32026687..32028800,2	K562	blood:
28	chr22:31960988..31962788-chr22:32015387..32017206,2	K562	blood:
29	chr22:32005385..32007517-chr22:32015792..32017582,2	MCF-7	breast:
30	chr22:31996962..31998661-chr22:32003340..32005978,2	K562	blood:
31	chr22:31996880..31998541-chr22:31999926..32002535,2	K562	blood:
32	22:32012966-32043914..22:32846948-32860159	K562	blood:
33	chr22:31999831..32002168-chr22:32013735..32015818,2	K562	blood:
34	chr22:32027217..32028828-chr22:32033884..32035485,2	MCF-7	breast:
35	22:32012966-32043914..22:32513817-32522138	K562	blood:
36	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
37	chr22:32014336..32015950-chr22:32021359..32023068,2	MCF-7	breast:
38	chr22:32027036..32029342-chr22:32032143..32033844,2	MCF-7	breast:
39	chr22:32013812..32017033-chr22:32024155..32027288,4	MCF-7	breast:
40	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
41	chr22:32006220..32009486-chr22:32009995..32012615,3	K562	blood:
42	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
43	chr22:32026032..32028190-chr22:32055546..32059195,4	MCF-7	breast:
44	chr22:32021921..32023710-chr22:32058064..32060097,2	K562	blood:
45	chr22:32017352..32019493-chr22:32020509..32023823,4	MCF-7	breast:
46	chr22:31971863..31974758-chr22:32025154..32029039,5	MCF-7	breast:
47	22:31836635-31847259..22:32011472-32012966	GM12878	blood:
48	chr22:32004710..32007352-chr22:32026713..32029250,2	MCF-7	breast:
49	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
50	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRR14L-1	chr22:32026508-32026785	NONHSAT084911
2	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084906
3	lnc-DRG1-5	chr22:32014198-32014212	NONHSAT084906
4	lnc-PRR14L-1	chr22:32021864-32022002	NONHSAT084911
5	lnc-PRR14L-1	chr22:32025762-32025870	NONHSAT084911
6	lnc-PRR14L-1	chr22:32023989-32024196	NONHSAT084910
7	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084907
8	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084907
9	lnc-DRG1-5	chr22:32009821-32009841	NONHSAT084906
10	lnc-DRG1-5	chr22:32010153-32010846	NONHSAT084907
11	lnc-PRR14L-1	chr22:32021808-32022002	NONHSAT084910
12	lnc-PRR14L-1	chr22:32024839-32024967	NONHSAT084911
13	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084909
14	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084907
15	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084907
16	lnc-DRG1-3	chr22:32007752-32007826	NONHSAT084904
17	lnc-DRG1-5	chr22:32010372-32011265	NONHSAT084909
18	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084909
19	lnc-PRR14L-1	chr22:32024839-32024967	NONHSAT084910
20	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084907
21	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084909
22	lnc-PRR14L-1	chr22:32025688-32025992	NONHSAT084910
23	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084909
24	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084906
25	lnc-DRG1-3	chr22:32007985-32008428	NONHSAT084904
26	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084906
27	lnc-DRG1-5	chr22:32010775-32010846	NONHSAT084906

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

(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
ENSG00000198089	chromatin interactions
ENSG00000239674	chromatin interactions
ENSG00000224050	chromatin interactions
ENSG00000185721	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000238910	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000229169	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000199347	chromatin interactions

Extended variants
information (count: 1532 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1532 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372191239	chr22:31998249-31998250	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs374760963	chr22:31998254-31998255	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368813848	chr22:31998261-31998262	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs199950171	chr22:31998263-31998264	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376085123	chr22:31998265-31998266	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369248824	chr22:31998266-31998267	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs569243632	chr22:31998312-31998313	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538029192	chr22:31998376-31998377	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201592670	chr22:31998378-31998379	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369400492	chr22:31998441-31998442	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557904498	chr22:31998462-31998463	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs138832782	chr22:31998475-31998476	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373717963	chr22:31998553-31998554	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs376690682	chr22:31998566-31998567	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs149372335	chr22:31998572-31998573	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375948975	chr22:31998604-31998605	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs552798784	chr22:31998605-31998606	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2006771	chr22:31998612-31998613	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs541889095	chr22:31998616-31998617	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200059840	chr22:31998621-31998622	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs374785479	chr22:31998627-31998628	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs368091647	chr22:31998663-31998664	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201148493	chr22:31998700-31998701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200973442	chr22:31998701-31998702	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376088189	chr22:31998705-31998706	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371619231	chr22:31998707-31998708	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561950045	chr22:31998721-31998722	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs4339045	chr22:31998724-31998725	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs61742595	chr22:31998739-31998740	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368246544	chr22:31998751-31998752	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564263125	chr22:31998788-31998789	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372234803	chr22:31998805-31998806	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs62237819	chr22:31998808-31998809	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368611296	chr22:31998814-31998815	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189840664	chr22:31998874-31998875	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566892926	chr22:31998875-31998876	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529233843	chr22:31998889-31998890	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs35194330	chr22:31998908-31998909	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs182118538	chr22:31998989-31998990	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568934873	chr22:31998990-31998991	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538115705	chr22:31999016-31999017	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs186355798	chr22:31999043-31999044	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190752901	chr22:31999046-31999047	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369848909	chr22:31999078-31999079	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183468282	chr22:31999101-31999102	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34862169	chr22:31999102-31999103	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs8141315	chr22:31999125-31999126	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs6518752	chr22:31999127-31999128	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs188849706	chr22:31999167-31999168	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369480377	chr22:31999177-31999178	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1939 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
4	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
7	chr22:31976200-32014800	Weak transcription	A549	lung
8	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
10	chr22:31982600-31998400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:31982600-32006400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:31983000-31998600	Weak transcription	Colonic Mucosa	Colon
13	chr22:31984400-31998400	Weak transcription	Primary B cells from cord blood	blood
14	chr22:31984400-31998400	Weak transcription	Adipose Nuclei	Adipose
15	chr22:31984400-31998400	Weak transcription	Fetal Lung	lung
16	chr22:31984400-31999000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr22:31985600-31998400	Weak transcription	Brain Anterior Caudate	brain
18	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:31985800-31998400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:31985800-31998400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:31985800-31998600	Weak transcription	Brain Substantia Nigra	brain
22	chr22:31985800-31999400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:31985800-32006600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:31985800-32010400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31986000-31998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:31986200-31998400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:31991800-31998400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:31993200-32001200	Weak transcription	Stomach Mucosa	stomach
33	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:31995400-32000200	Strong transcription	Fetal Intestine Small	intestine
35	chr22:31995600-31999200	Enhancers	HUVEC	blood vessel
36	chr22:31996000-31999200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:31996000-32008400	Strong transcription	Primary T cells from cord blood	blood
38	chr22:31996200-32010000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr22:31996400-32000800	Enhancers	Placenta	Placenta
40	chr22:31996400-32002800	Strong transcription	Dnd41	blood
41	chr22:31996400-32010800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr22:31996600-31998600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr22:31996600-31999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr22:31996600-32010600	Strong transcription	Thymus	Thymus
45	chr22:31996600-32011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr22:31996600-32011800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:31996800-32002600	Strong transcription	GM12878-XiMat	blood

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