Variant report

Variant	esv1845516
Chromosome Location	chr22:32010436-32024552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:795)
CpG islands
(count:306)
Chromatin interactive
region (count:41)
LncRNA
region (count:19)
Mature miRNA
region (count: 2)
miRNA target
sites (count:3)

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr22:32012203-32012737	GM12878	blood:	n/a	n/a
2	BCL3	chr22:32016902-32017368	GM12878	blood:	n/a	n/a
3	BCL3	chr22:32015300-32016448	GM12878	blood:	n/a	n/a
4	BCL3	chr22:32012233-32012908	GM12878	blood:	n/a	n/a
5	BCL3	chr22:32017701-32017981	GM12878	blood:	n/a	n/a
6	BCL3	chr22:32016941-32017460	GM12878	blood:	n/a	n/a
7	BCL3	chr22:32017464-32017856	GM12878	blood:	n/a	n/a
8	BCL3	chr22:32013784-32014988	GM12878	blood:	n/a	n/a
9	BCL3	chr22:32018004-32018317	GM12878	blood:	n/a	n/a
10	BCLAF1	chr22:32012185-32012725	GM12878	blood:	n/a	n/a
11	BHLHE40	chr22:32012380-32012640	GM12878	blood:	n/a	n/a
12	BHLHE40	chr22:32022412-32022913	K562	blood:	n/a	n/a
13	BHLHE40	chr22:32023280-32023462	K562	blood:	n/a	n/a
14	BHLHE40	chr22:32021885-32021930	K562	blood:	n/a	n/a
15	CBX3	chr22:32022498-32023013	K562	blood:	n/a	n/a
16	CCNT2	chr22:32022369-32023014	K562	blood:	n/a	n/a
17	CCNT2	chr22:32016890-32016983	K562	blood:	n/a	n/a
18	CCNT2	chr22:32021680-32022084	K562	blood:	n/a	n/a
19	CEBPB	chr22:32018010-32018154	HepG2	liver:	n/a	chr22:32018093-32018104
20	CEBPB	chr22:32022644-32023005	HepG2	liver:	n/a	chr22:32022901-32022914
21	CEBPB	chr22:32022428-32023100	K562	blood:	n/a	chr22:32022901-32022914
22	CEBPB	chr22:32018078-32018121	Hela-S3	cervix:	n/a	chr22:32018093-32018104
23	CEBPB	chr22:32022484-32022994	K562	blood:	n/a	chr22:32022901-32022914
24	CEBPD	chr22:32022458-32022994	K562	blood:	n/a	chr22:32022902-32022913
25	CEBPD	chr22:32022441-32023094	K562	blood:	n/a	chr22:32022902-32022913
26	CHD2	chr22:32019723-32019819	HepG2	liver:	n/a	n/a
27	CHD2	chr22:32013127-32013327	K562	blood:	n/a	n/a
28	CHD2	chr22:32012292-32012926	HepG2	liver:	n/a	n/a
29	CHD2	chr22:32021903-32022098	K562	blood:	n/a	n/a
30	CHD2	chr22:32015741-32015809	K562	blood:	n/a	n/a
31	CHD2	chr22:32022956-32023048	HepG2	liver:	n/a	n/a
32	CHD2	chr22:32021756-32022076	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr22:32023511-32023600	HepG2	liver:	n/a	n/a
34	CHD2	chr22:32021183-32021209	HepG2	liver:	n/a	n/a
35	CTCF	chr22:32022115-32022208	NHEK	skin:	n/a	n/a
36	CTCF	chr22:32014534-32014799	K562	blood:	n/a	n/a
37	CTCF	chr22:32012456-32012508	GM19238	blood:	n/a	n/a
38	CTCF	chr22:32022120-32022270	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr22:32014687-32014690	GM19240	blood:	n/a	n/a
40	CTCF	chr22:32022135-32022199	MCF-7	breast:	n/a	n/a
41	CTCF	chr22:32022146-32022218	ProgFib	skin:	n/a	n/a
42	CTCF	chr22:32022106-32022248	MCF-7	breast:	n/a	n/a
43	CTCF	chr22:32022149-32022220	IMR90	lung:	n/a	n/a
44	CTCF	chr22:32014645-32014715	GM19238	blood:	n/a	n/a
45	CTCF	chr22:32022071-32022257	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr22:32022060-32022210	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr22:32014600-32014750	RPTEC	kidney:	n/a	n/a
48	CTCF	chr22:32012440-32012590	GM12878	blood:	n/a	n/a
49	CTCF	chr22:32021420-32021570	HBMEC	blood vessel:	n/a	chr22:32021522-32021540 chr22:32021528-32021537 chr22:32021524-32021537
50	CTCF	chr22:32022060-32022210	HAc	cerebellar:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32022314-32022364	AG09319	gingival:	n/a
2	chr22:32022314-32022364	AG09319	gingival:	n/a
3	chr22:32022314-32022364	NB4	blood:	n/a
4	chr22:32015030-32015080	HUVEC	blood vessel:	n/a
5	chr22:32014422-32014472	Jurkat	blood:	n/a
6	chr22:32022314-32022364	HepG2	liver:	n/a
7	chr22:32021249-32021299	PFSK-1	brain:	n/a
8	chr22:32014422-32014472	GM06990	blood:	n/a
9	chr22:32022314-32022364	AG04450	lung:	fetal
10	chr22:32021249-32021299	HEK293	kidney:	embryo
11	chr22:32022314-32022364	MCF10A-Er-Src	breast:	n/a
12	chr22:32015384-32015434	A549	lung:	n/a
13	chr22:32015030-32015080	HIPEpiC	eye:	n/a
14	chr22:32015384-32015434	HEEpiC	esophagus:	n/a
15	chr22:32014422-32014472	NHDF-neo	bronchial:	n/a
16	chr22:32015384-32015434	GM12878	blood:	n/a
17	chr22:32021249-32021299	HEEpiC	esophagus:	n/a
18	chr22:32022314-32022364	GM06990	blood:	n/a
19	chr22:32015384-32015434	SK-N-SH	brain:	n/a
20	chr22:32015030-32015080	A549	lung:	n/a
21	chr22:32021249-32021299	Hela-S3	cervix:	n/a
22	chr22:32015384-32015434	HL-60	blood:	n/a
23	chr22:32015030-32015080	HRCEpiC	kidney:	n/a
24	chr22:32022314-32022364	AG04449	skin:	fetal
25	chr22:32015030-32015080	LNCaP	prostate:	n/a
26	chr22:32014422-32014472	AG04450	lung:	fetal
27	chr22:32015030-32015080	U87	brain:	n/a
28	chr22:32021249-32021299	AG09319	gingival:	n/a
29	chr22:32014422-32014472	SK-N-SH	brain:	n/a
30	chr22:32022314-32022364	HRPEpiC	eye:	n/a
31	chr22:32021249-32021299	HIPEpiC	eye:	n/a
32	chr22:32015030-32015080	Jurkat	blood:	n/a
33	chr22:32014422-32014472	AG09309	skin:	n/a
34	chr22:32021249-32021299	ovcar-3	ovarian:	n/a
35	chr22:32021249-32021299	T-47D	breast:	n/a
36	chr22:32022314-32022364	NHDF-neo	bronchial:	n/a
37	chr22:32015030-32015080	BE2_C	brain:	n/a
38	chr22:32014422-32014472	HCT-116	colon:	n/a
39	chr22:32015384-32015434	AG04450	lung:	fetal
40	chr22:32021249-32021299	HNPCEpiC	eye:	n/a
41	chr22:32021249-32021299	Caco-2	colon:	n/a
42	chr22:32015030-32015080	HL-60	blood:	n/a
43	chr22:32015030-32015080	MCF-7	breast:	n/a
44	chr22:32014422-32014472	SK-N-MC	brain:	n/a
45	chr22:32015030-32015080	NT2-D1	testis:	n/a
46	chr22:32015384-32015434	Jurkat	blood:	n/a
47	chr22:32022314-32022364	HCM	heart:	n/a
48	chr22:32021249-32021299	HRE	kidney:	n/a
49	chr22:32015384-32015434	SAEC	small airway:	n/a
50	chr22:32014422-32014472	HIPEpiC	eye:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32005385..32007517-chr22:32015792..32017582,2	MCF-7	breast:
2	22:32012966-32043914..22:32529813-32538538	K562	blood:
3	chr22:31999125..32001513-chr22:32021753..32023468,2	K562	blood:
4	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
5	22:32012966-32043914..22:32360288-32405313	K562	blood:
6	chr22:31736945..31739713-chr22:32022907..32024552,2	MCF-7	breast:
7	chr22:31892695..31894776-chr22:32016253..32018919,2	K562	blood:
8	chr22:31982507..31985125-chr22:32018725..32020856,2	MCF-7	breast:
9	22:32012966-32043914..22:32846948-32860159	K562	blood:
10	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
11	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
12	chr22:31960988..31962788-chr22:32015387..32017206,2	K562	blood:
13	chr22:31999831..32002168-chr22:32013735..32015818,2	K562	blood:
14	chr22:32014846..32016763-chr22:32018159..32020204,2	MCF-7	breast:
15	chr22:32021921..32023710-chr22:32058064..32060097,2	K562	blood:
16	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
17	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
18	chr22:32007884..32012411-chr22:32016194..32020167,5	MCF-7	breast:
19	22:32012966-32043914..22:32665993-32670527	K562	blood:
20	chr22:32014336..32015950-chr22:32021359..32023068,2	MCF-7	breast:
21	chr22:32014846..32016763-chr22:32018159..32020204,2	MCF-7	breast:
22	22:32012966-32043914..22:32347255-32351014	K562	blood:
23	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
24	chr22:32013812..32017033-chr22:32024155..32027288,4	MCF-7	breast:
25	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
26	chr11:130786311..130786914-chr22:32021183..32021703,2	K562	blood:
27	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
28	chr22:32010251..32014501-chr22:32014940..32019879,7	MCF-7	breast:
29	22:31836635-31847259..22:32011472-32012966	GM12878	blood:
30	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
31	22:31803954-31807204..22:32011472-32012966	K562	blood:
32	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
33	22:32012966-32043914..22:32513817-32522138	K562	blood:
34	chr22:32017352..32019493-chr22:32020509..32023823,4	MCF-7	breast:
35	chr22:32016532..32018838-chr22:32019395..32021980,2	MCF-7	breast:
36	chr22:32011211..32013960-chr22:32020685..32023584,2	MCF-7	breast:
37	chr22:32008021..32010737-chr22:32022618..32024504,2	MCF-7	breast:
38	chr22:32006220..32009486-chr22:32009995..32012615,3	K562	blood:
39	chr22:32000416..32002977-chr22:32011227..32013739,3	K562	blood:
40	chr22:31978403..31980751-chr22:32010248..32012118,2	MCF-7	breast:
41	chr22:32022238..32024391-chr22:32055761..32058273,2	MCF-7	breast:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084906
2	lnc-PRR14L-1	chr22:32021808-32022002	NONHSAT084910
3	lnc-DRG1-5	chr22:32011034-32011265	NONHSAT084907
4	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084906
5	lnc-DRG1-5	chr22:32010775-32010846	NONHSAT084906
6	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084907
7	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084907
8	lnc-DRG1-5	chr22:32010153-32010846	NONHSAT084907
9	lnc-PRR14L-1	chr22:32023989-32024196	NONHSAT084910
10	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084909
11	lnc-PRR14L-1	chr22:32021864-32022002	NONHSAT084911
12	lnc-DRG1-5	chr22:32012731-32012863	NONHSAT084906
13	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084909
14	lnc-DRG1-5	chr22:32014300-32014534	NONHSAT084909
15	lnc-DRG1-5	chr22:32014198-32014212	NONHSAT084906
16	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084909
17	lnc-DRG1-5	chr22:32012986-32013064	NONHSAT084907
18	lnc-DRG1-5	chr22:32014101-32014212	NONHSAT084907
19	lnc-DRG1-5	chr22:32010372-32011265	NONHSAT084909

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	chr22:32014772-32014796
2	PISD	hsa-miR-16-5p	chr22:32014778-32014771
3	PISD	hsa-miR-16-5p	chr22:32015242-32015263

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

Extended variants
information (count: 756 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:756 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56280136	chr22:32010477-32010478	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs575438834	chr22:32010515-32010516	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs373215127	chr22:32010525-32010526	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs375650575	chr22:32010587-32010588	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs367975035	chr22:32010602-32010603	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs191856396	chr22:32010605-32010606	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs73881393	chr22:32010637-32010638	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142209218	chr22:32010643-32010644	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs151214846	chr22:32010664-32010665	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs141456237	chr22:32010671-32010672	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs529515983	chr22:32010703-32010704	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs577474775	chr22:32010710-32010711	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs55854233	chr22:32010721-32010722	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs569342342	chr22:32010741-32010742	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs369925515	chr22:32010747-32010748	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs531978553	chr22:32010761-32010762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs374121652	chr22:32010763-32010764	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs370554896	chr22:32010771-32010772	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs201001495	chr22:32010772-32010773	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs371195366	chr22:32010810-32010811	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs373345630	chr22:32010811-32010812	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs376901211	chr22:32010830-32010831	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs200146787	chr22:32010834-32010835	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs376353699	chr22:32010861-32010862	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs370535555	chr22:32010866-32010867	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs539553174	chr22:32010908-32010909	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs552974849	chr22:32010909-32010910	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs566463442	chr22:32010914-32010915	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs535345041	chr22:32010918-32010919	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs556267198	chr22:32010939-32010940	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs555683757	chr22:32010944-32010945	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs374558140	chr22:32010984-32010985	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs576235455	chr22:32010995-32010996	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs575326215	chr22:32011040-32011041	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs368059033	chr22:32011062-32011063	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs544431662	chr22:32011088-32011089	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs557548976	chr22:32011094-32011095	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs200843090	chr22:32011118-32011119	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs540333087	chr22:32011149-32011150	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs112771002	chr22:32011152-32011153	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs371341546	chr22:32011184-32011185	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs61742933	chr22:32011190-32011191	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs529329028	chr22:32011194-32011195	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs373914988	chr22:32011204-32011205	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs368697264	chr22:32011224-32011225	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs12171042	chr22:32011225-32011226	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs563224421	chr22:32011229-32011230	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs201688970	chr22:32011234-32011235	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs35281960	chr22:32011239-32011240	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs374757474	chr22:32011249-32011250	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
3	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:31976200-32014800	Weak transcription	A549	lung
5	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
7	chr22:31985600-32014000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:31985800-32012400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr22:31985800-32014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:31985800-32014800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31990400-32014200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31993200-32013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31996400-32010800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr22:31996600-32010600	Strong transcription	Thymus	Thymus
15	chr22:31996600-32011200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:31996600-32011800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr22:31996600-32012200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:31996600-32018200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr22:31996600-32020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:31996800-32011600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:31997200-32012000	Strong transcription	Fetal Thymus	thymus
22	chr22:31997600-32011400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:31998400-32015600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr22:31998600-32022000	Weak transcription	Fetal Kidney	kidney
25	chr22:31998800-32012200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:31999000-32010600	Weak transcription	Osteobl	bone
27	chr22:31999000-32011800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:31999000-32013800	Weak transcription	HMEC	breast
29	chr22:31999000-32014600	Weak transcription	NHDF-Ad	bronchial
30	chr22:31999200-32010600	Weak transcription	HUVEC	blood vessel
31	chr22:31999400-32011400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:31999400-32011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:31999400-32012800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:31999400-32014800	Weak transcription	NH-A	brain
35	chr22:31999600-32012200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:31999800-32012200	Weak transcription	Brain Substantia Nigra	brain
37	chr22:32000200-32014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:32001200-32012000	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:32001600-32011600	Weak transcription	Brain Germinal Matrix	brain
40	chr22:32001600-32012400	Weak transcription	NHEK	skin
41	chr22:32002600-32011600	Weak transcription	Primary B cells from cord blood	blood
42	chr22:32002600-32012400	Weak transcription	Stomach Mucosa	stomach
43	chr22:32003200-32013000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr22:32003600-32022000	Strong transcription	Dnd41	blood
45	chr22:32004400-32011800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:32004400-32012400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:32004600-32012400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:32004600-32013000	Weak transcription	Brain Angular Gyrus	brain
49	chr22:32005400-32013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:32006000-32013800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links