Variant report

Variant	nsv3599
Chromosome Location	chr22:33230106-33274789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:470)
CpG islands
(count:122)
Chromatin interactive
region (count:53)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:17)

(count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:33269471-33269936	K562	blood:	n/a	n/a
2	ARID3A	chr22:33238469-33238686	K562	blood:	n/a	n/a
3	ATF1	chr22:33238417-33238756	K562	blood:	n/a	n/a
4	ATF1	chr22:33269514-33269912	K562	blood:	n/a	n/a
5	ATF1	chr22:33274286-33274613	K562	blood:	n/a	n/a
6	BHLHE40	chr22:33269296-33269967	K562	blood:	n/a	n/a
7	CCNT2	chr22:33269472-33269978	K562	blood:	n/a	n/a
8	CEBPB	chr22:33250991-33251590	IMR90	lung:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
9	CEBPB	chr22:33241233-33241258	K562	blood:	n/a	chr22:33241239-33241250
10	CEBPB	chr22:33251049-33251346	A549	lung:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
11	CEBPB	chr22:33269570-33269894	K562	blood:	n/a	n/a
12	CEBPB	chr22:33250999-33251363	K562	blood:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
13	CEBPB	chr22:33269597-33269905	K562	blood:	n/a	n/a
14	CEBPB	chr22:33241217-33241254	HepG2	liver:	n/a	chr22:33241239-33241250
15	CEBPB	chr22:33250997-33251384	HepG2	liver:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
16	CEBPB	chr22:33241134-33241358	IMR90	lung:	n/a	chr22:33241239-33241250
17	CEBPB	chr22:33273294-33273477	IMR90	lung:	n/a	n/a
18	CEBPD	chr22:33269532-33269892	K562	blood:	n/a	n/a
19	CEBPD	chr22:33269559-33269907	K562	blood:	n/a	n/a
20	CHD2	chr22:33257441-33257568	HepG2	liver:	n/a	n/a
21	CHD2	chr22:33243160-33243162	HepG2	liver:	n/a	n/a
22	CHD2	chr22:33239929-33239941	HepG2	liver:	n/a	n/a
23	CTCF	chr22:33232367-33232516	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr22:33232253-33232644	K562	blood:	n/a	n/a
25	CTCF	chr22:33232618-33232718	GM19239	blood:	n/a	n/a
26	CTCF	chr22:33232460-33232610	GM12868	blood:	n/a	n/a
27	CTCF	chr22:33232289-33232567	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr22:33232255-33232668	GM12878	blood:	n/a	n/a
29	CTCF	chr22:33232360-33232510	GM06990	blood:	n/a	n/a
30	CTCF	chr22:33232349-33232501	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr22:33232320-33232470	AG04449	skin:	n/a	n/a
32	CTCF	chr22:33232653-33232728	Fibrobl	skin:	n/a	n/a
33	CTCF	chr22:33232323-33232490	MCF-7	breast:	n/a	n/a
34	CTCF	chr22:33232360-33232510	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr22:33232440-33232590	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr22:33232412-33232490	GM13976	blood:	n/a	n/a
37	CTCF	chr22:33232380-33232530	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr22:33232300-33232450	AG09309	skin:	n/a	n/a
39	CTCF	chr22:33232360-33232510	BE2_C	brain:	n/a	n/a
40	CTCF	chr22:33232320-33232470	GM12871	blood:	n/a	n/a
41	CTCF	chr22:33232312-33232516	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr22:33232380-33232530	HVMF	connective:	n/a	n/a
43	CTCF	chr22:33232340-33232490	RPTEC	kidney:	n/a	n/a
44	CTCF	chr22:33232740-33232890	GM12870	blood:	n/a	n/a
45	CTCF	chr22:33232320-33232470	GM12864	blood:	n/a	n/a
46	CTCF	chr22:33232300-33232450	A549	lung:	n/a	n/a
47	CTCF	chr22:33232357-33232529	LNCaP	prostate:	n/a	n/a
48	CTCF	chr22:33232360-33232510	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr22:33232341-33232436	ProgFib	skin:	n/a	n/a
50	CTCF	chr22:33232360-33232510	AG04450	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:33258777-33258827	SKMC	muscle:	n/a
2	chr22:33257641-33257691	HEK293	kidney:	embryo
3	chr22:33257641-33257691	HCF	heart:	n/a
4	chr22:33258777-33258827	NH-A	brain:	n/a
5	chr22:33258777-33258827	GM12891	blood:	n/a
6	chr22:33258777-33258827	H1-hESC	embryonic stem cell:	embryo
7	chr22:33258777-33258827	T-47D	breast:	n/a
8	chr22:33257641-33257691	AG04449	skin:	fetal
9	chr22:33258777-33258827	BJ	skin:	n/a
10	chr22:33257641-33257691	HPAEpiC	pulmonary alveolar:	n/a
11	chr22:33257641-33257691	PANC-1	pancreas:	n/a
12	chr22:33258777-33258827	HMEC	breast:	n/a
13	chr22:33257641-33257691	Jurkat	blood:	n/a
14	chr22:33258777-33258827	HNPCEpiC	eye:	n/a
15	chr22:33258777-33258827	PANC-1	pancreas:	n/a
16	chr22:33257641-33257691	BE2_C	brain:	n/a
17	chr22:33258777-33258827	HUVEC	blood vessel:	n/a
18	chr22:33257641-33257691	PFSK-1	brain:	n/a
19	chr22:33258777-33258827	K562	blood:	n/a
20	chr22:33258777-33258827	HRPEpiC	eye:	n/a
21	chr22:33258777-33258827	NHBE	bronchial:	n/a
22	chr22:33258777-33258827	SK-N-SH_RA	brain:	n/a
23	chr22:33257641-33257691	CMK	blood:	n/a
24	chr22:33257641-33257691	T-47D	breast:	n/a
25	chr22:33257641-33257691	LNCaP	prostate:	n/a
26	chr22:33257641-33257691	ovcar-3	ovarian:	n/a
27	chr22:33258777-33258827	ovcar-3	ovarian:	n/a
28	chr22:33258777-33258827	HIPEpiC	eye:	n/a
29	chr22:33258777-33258827	CMK	blood:	n/a
30	chr22:33258777-33258827	AG09309	skin:	n/a
31	chr22:33257641-33257691	NHBE	bronchial:	n/a
32	chr22:33258777-33258827	HRE	kidney:	n/a
33	chr22:33258777-33258827	Hela-S3	cervix:	n/a
34	chr22:33258777-33258827	GM06990	blood:	n/a
35	chr22:33257641-33257691	GM12891	blood:	n/a
36	chr22:33258777-33258827	AG04450	lung:	fetal
37	chr22:33258777-33258827	HepG2	liver:	n/a
38	chr22:33257641-33257691	GM19239	blood:	n/a
39	chr22:33258777-33258827	SAEC	small airway:	n/a
40	chr22:33258777-33258827	AG09319	gingival:	n/a
41	chr22:33258777-33258827	NB4	blood:	n/a
42	chr22:33257641-33257691	SK-N-MC	brain:	n/a
43	chr22:33257641-33257691	IMR90	lung:	fetal
44	chr22:33258777-33258827	MCF10A-Er-Src	breast:	n/a
45	chr22:33258777-33258827	ECC-1	luminal epithelium:	n/a
46	chr22:33257641-33257691	GM12892	blood:	n/a
47	chr22:33257641-33257691	U87	brain:	n/a
48	chr22:33257641-33257691	NHDF-neo	bronchial:	n/a
49	chr22:33258777-33258827	HL-60	blood:	n/a
50	chr22:33257641-33257691	SKMC	muscle:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
2	chr22:33240468..33242609-chr22:33255159..33257901,2	MCF-7	breast:
3	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:
4	chr22:33258265..33260703-chr22:33277216..33279656,2	K562	blood:
5	chr22:33232248..33234896-chr22:33237867..33240280,2	MCF-7	breast:
6	chr22:33231459..33233462-chr22:33245687..33247354,2	K562	blood:
7	22:32920308-32927723..22:33224847-33230875	H1-hESC	embryonic stem cell:	embryo
8	22:32860159-32865649..22:33224847-33230875	Hela-S3	cervix:
9	22:31836635-31847259..22:33247041-33253287	GM12878	blood:
10	chr22:33234675..33236559-chr22:33386766..33389702,2	MCF-7	breast:
11	chr22:33255086..33257693-chr22:33262193..33264201,2	K562	blood:
12	22:32920308-32927723..22:33247041-33253287	GM12878	blood:
13	22:32750950-32761732..22:33224847-33230875	Hela-S3	cervix:
14	22:32846948-32860159..22:33262063-33266567	Hela-S3	cervix:
15	22:32292186-32294405..22:33271334-33273392	K562	blood:
16	22:32920308-32927723..22:33232758-33234096	K562	blood:
17	22:31998728-32011472..22:33242943-33247041	GM12878	blood:
18	chr22:33231459..33233462-chr22:33245687..33247354,2	K562	blood:
19	22:32764253-32784733..22:33247041-33253287	K562	blood:
20	chr22:33261940..33262596-chr6:3624645..3625439,2	K562	blood:
21	chr22:33232248..33234896-chr22:33237867..33240280,2	MCF-7	breast:
22	22:32750950-32761732..22:33247041-33253287	Hela-S3	cervix:
23	chr22:33244019..33245716-chr22:33248681..33250493,2	MCF-7	breast:
24	22:32764253-32784733..22:33230875-33232758	K562	blood:
25	22:32920308-32927723..22:33230875-33232758	K562	blood:
26	22:32292186-32294405..22:33273392-33279610	K562	blood:
27	22:33247041-33253287..22:33262063-33266567	GM12878	blood:
28	chr22:33257978..33261996-chr22:33266633..33269916,3	K562	blood:
29	22:32544939-32549151..22:33224847-33230875	Hela-S3	cervix:
30	22:33235139-33240300..22:33262063-33266567	K562	blood:
31	22:33224847-33230875..22:33339333-33353583	K562	blood:
32	22:32915608-32918105..22:33247041-33253287	K562	blood:
33	22:32920308-32927723..22:33273392-33279610	K562	blood:
34	chr22:33196558..33199719-chr22:33257750..33262273,4	MCF-7	breast:
35	chr22:33012442..33014400-chr22:33241656..33243487,2	K562	blood:
36	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
37	chr22:33223873..33228070-chr22:33230052..33232364,3	K562	blood:
38	22:33235139-33240300..22:33339333-33353583	K562	blood:
39	22:31961151-31976153..22:33253287-33262063	K562	blood:
40	chr22:33224042..33225642-chr22:33228223..33230705,2	MCF-7	breast:
41	22:33232758-33234096..22:33339333-33353583	K562	blood:
42	chr22:33244019..33245716-chr22:33248681..33250493,2	MCF-7	breast:
43	22:32860159-32865649..22:33247041-33253287	Hela-S3	cervix:
44	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:
45	chr22:33225157..33228070-chr22:33230052..33232364,2	K562	blood:
46	22:32764253-32784733..22:33224847-33230875	K562	blood:
47	chr22:33252312..33253945-chr22:33277118..33278817,2	K562	blood:
48	chr22:33263420..33266410-chr22:33266667..33268483,2	MCF-7	breast:
49	22:32920308-32927723..22:33271334-33273392	H1-hESC	embryonic stem cell:	embryo
50	22:32012966-32043914..22:33247041-33253287	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARGE-8	chr22:33256006-33256421	NONHSAT084992

No data

(count:17 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TIMP3	hsa-miR-181b-5p	chr22:33258922-33258944
2	TIMP3	hsa-miR-221-3p	chr22:33257792-33257814
3	TIMP3	hsa-miR-222-3p	chr22:33257807-33257813
4	TIMP3	hsa-miR-21-5p	chr22:33257736-33257756
5	TIMP3	hsa-miR-124-3p	chr22:33258973-33258993
6	TIMP3	hsa-miR-1	chr22:33257120-33257126
7	TIMP3	hsa-miR-21-5p	chr22:33257749-33257756
8	TIMP3	hsa-miR-181b-5p	chr22:33258937-33258944
9	TIMP3	hsa-miR-1	chr22:33256490-33256511
10	TIMP3	hsa-miR-1	chr22:33256504-33256511
11	TIMP3	hsa-miR-222-3p	chr22:33257794-33257814
12	TIMP3	hsa-miR-181b-5p	chr22:33256154-33256176
13	TIMP3	hsa-miR-181b-5p	chr22:33258863-33258869
14	TIMP3	hsa-miR-335-5p	chr22:33257042-33257065
15	TIMP3	hsa-miR-21-5p	chr22:33256396-33256403
16	TIMP3	hsa-miR-221-3p	chr22:33257807-33257813
17	TIMP3	hsa-miR-21-5p	chr22:33256383-33256403

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000183531	TF binding region
SYN3	CpG island
ENSG00000183531	CpG island
ENSG00000100234	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000205856	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000183531	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000228793	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000184708	chromatin interactions

Extended variants
information (count: 1674 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1674 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539245293	chr22:33230119-33230120	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs78786422	chr22:33230133-33230134	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs199907148	chr22:33230181-33230182	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs566631714	chr22:33230195-33230196	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs535336946	chr22:33230201-33230202	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs554956824	chr22:33230202-33230203	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs377512867	chr22:33230238-33230239	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs5845042	chr22:33230309-33230310	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs200802342	chr22:33230311-33230312	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs397868026	chr22:33230312-33230313	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs130298	chr22:33230313-33230314	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs574852054	chr22:33230314-33230315	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs397805888	chr22:33230320-33230321	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs11089595	chr22:33230349-33230350	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557565863	chr22:33230424-33230425	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs578154236	chr22:33230567-33230568	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs559121614	chr22:33230572-33230573	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs560871490	chr22:33230584-33230585	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs529584227	chr22:33230599-33230600	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs11703906	chr22:33230620-33230621	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373009569	chr22:33230638-33230639	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs532514462	chr22:33230726-33230727	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs62232920	chr22:33230757-33230758	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs569183547	chr22:33230779-33230780	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs9621575	chr22:33230792-33230793	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551943827	chr22:33230844-33230845	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs548937843	chr22:33230854-33230855	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs192052699	chr22:33230879-33230880	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs242075	chr22:33230904-33230905	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs57620882	chr22:33230917-33230918	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566625749	chr22:33230950-33230951	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs183987381	chr22:33230978-33230979	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs548817137	chr22:33230982-33230983	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs73158341	chr22:33230983-33230984	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114761866	chr22:33230992-33230993	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs537440155	chr22:33231009-33231010	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs557868506	chr22:33231039-33231040	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs554095624	chr22:33231100-33231101	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs151256310	chr22:33231104-33231105	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs186021881	chr22:33231172-33231173	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs573686645	chr22:33231255-33231256	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs554089477	chr22:33231276-33231277	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs574246543	chr22:33231318-33231319	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs543387549	chr22:33231319-33231320	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs140433634	chr22:33231340-33231341	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs190491986	chr22:33231341-33231342	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs545049473	chr22:33231381-33231382	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs182541569	chr22:33231385-33231386	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs8142143	chr22:33231386-33231387	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113001019	chr22:33231419-33231420	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Carotid artery disease	17901377	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
2	chr22:33217800-33248600	Weak transcription	Gastric	stomach
3	chr22:33222200-33236000	Enhancers	Right Atrium	heart
4	chr22:33222600-33230800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
6	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
8	chr22:33223200-33232600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:33223400-33235400	Weak transcription	Fetal Intestine Large	intestine
10	chr22:33224200-33233400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:33224800-33234200	Weak transcription	Fetal Kidney	kidney
12	chr22:33226200-33236200	Weak transcription	Fetal Intestine Small	intestine
13	chr22:33226400-33233800	Weak transcription	NHEK	skin
14	chr22:33226600-33232600	Weak transcription	Esophagus	oesophagus
15	chr22:33226600-33233600	Strong transcription	Osteobl	bone
16	chr22:33226600-33235600	Weak transcription	NH-A	brain
17	chr22:33226600-33238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:33226600-33238400	Enhancers	Fetal Heart	heart
19	chr22:33226800-33230400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:33226800-33230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:33226800-33230800	Weak transcription	HSMM	muscle
22	chr22:33226800-33232200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:33227000-33232600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:33227000-33235000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:33227200-33230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:33227200-33234200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:33227400-33235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33227600-33230600	Weak transcription	Ovary	ovary
30	chr22:33227600-33237200	Strong transcription	HepG2	liver
31	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:33227800-33230400	Weak transcription	Aorta	Aorta
34	chr22:33227800-33236800	Weak transcription	Liver	Liver
35	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr22:33228000-33230600	Weak transcription	Spleen	Spleen
38	chr22:33228000-33231600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:33228000-33232200	Weak transcription	Colonic Mucosa	Colon
40	chr22:33228000-33232200	Weak transcription	Psoas Muscle	Psoas
41	chr22:33228000-33232200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:33228000-33232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:33228000-33232600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr22:33228000-33234200	Weak transcription	Fetal Lung	lung
45	chr22:33228000-33236800	Weak transcription	Brain Angular Gyrus	brain
46	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:33228200-33230200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr22:33228200-33232600	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links