Variant report

Variant	nsv518312
Chromosome Location	chr2:47224927-47262137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1352)
CpG islands
(count:366)
Chromatin interactive
region (count:95)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:47261233-47262708	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:47235936-47236155	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:47260134-47260492	HepG2	liver:	n/a	chr2:47260343-47260359
4	ATF3	chr2:47260956-47262054	A549	lung:	n/a	n/a
5	ATF3	chr2:47261061-47261966	A549	lung:	n/a	n/a
6	BCL3	chr2:47230174-47230491	GM12878	blood:	n/a	n/a
7	BCL3	chr2:47260131-47262418	A549	lung:	n/a	chr2:47261600-47261607
8	BCL3	chr2:47260971-47262534	A549	lung:	n/a	chr2:47261600-47261607
9	BHLHE40	chr2:47261256-47261837	HepG2	liver:	n/a	n/a
10	BHLHE40	chr2:47261297-47261625	K562	blood:	n/a	n/a
11	BHLHE40	chr2:47261113-47262118	A549	lung:	n/a	chr2:47262041-47262050 chr2:47262042-47262051 chr2:47262041-47262050
12	BHLHE40	chr2:47260184-47262789	HepG2	liver:	n/a	chr2:47262041-47262050 chr2:47262042-47262051 chr2:47262041-47262050
13	BHLHE40	chr2:47261187-47261624	HepG2	liver:	n/a	n/a
14	BHLHE40	chr2:47243785-47243967	K562	blood:	n/a	n/a
15	BRCA1	chr2:47243768-47243860	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr2:47260648-47262049	HepG2	liver:	n/a	n/a
17	BRCA1	chr2:47261033-47261936	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr2:47243333-47244056	HCT-116	colon:	n/a	n/a
19	CCNT2	chr2:47232922-47233102	K562	blood:	n/a	n/a
20	CEBPB	chr2:47251242-47251442	HepG2	liver:	n/a	chr2:47251319-47251330 chr2:47251316-47251333
21	CEBPB	chr2:47251214-47251435	IMR90	lung:	n/a	chr2:47251319-47251330 chr2:47251316-47251333
22	CEBPB	chr2:47258260-47258303	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:47261216-47262017	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:47251157-47251431	A549	lung:	n/a	chr2:47251319-47251330 chr2:47251316-47251333
25	CEBPB	chr2:47257364-47257434	IMR90	lung:	n/a	n/a
26	CEBPB	chr2:47261627-47261889	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:47261029-47262305	A549	lung:	n/a	n/a
28	CEBPB	chr2:47261560-47261984	A549	lung:	n/a	n/a
29	CEBPB	chr2:47251266-47251441	Hela-S3	cervix:	n/a	chr2:47251319-47251330 chr2:47251316-47251333
30	CEBPB	chr2:47261279-47262027	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:47243612-47243929	IMR90	lung:	n/a	n/a
32	CEBPB	chr2:47261531-47262025	MCF-7	breast:	n/a	n/a
33	CEBPB	chr2:47235871-47236257	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:47232915-47233121	K562	blood:	n/a	n/a
35	CEBPB	chr2:47261315-47261512	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:47259592-47259821	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr2:47261239-47262012	HepG2	liver:	n/a	n/a
38	CEBPB	chr2:47261277-47261975	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:47261259-47262021	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr2:47261161-47261954	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:47236051-47236202	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:47257276-47257498	A549	lung:	n/a	n/a
43	CEBPB	chr2:47242417-47242617	A549	lung:	n/a	chr2:47242528-47242540
44	CEBPB	chr2:47261248-47261969	A549	lung:	n/a	n/a
45	CEBPB	chr2:47235632-47236166	IMR90	lung:	n/a	n/a
46	CEBPD	chr2:47261199-47262028	HepG2	liver:	n/a	n/a
47	CEBPD	chr2:47261274-47261665	HepG2	liver:	n/a	n/a
48	CHD2	chr2:47236083-47236174	HepG2	liver:	n/a	n/a
49	CHD2	chr2:47261514-47261821	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr2:47260789-47260986	HepG2	liver:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47230407-47230457	Hepatocyte	liver:	n/a
2	chr2:47229506-47229556	AG10803	skin:	n/a
3	chr2:47261900-47261950	NH-A	brain:	n/a
4	chr2:47261900-47261950	AoSMC	blood vessel:	n/a
5	chr2:47229506-47229556	ProgFib	skin:	n/a
6	chr2:47261900-47261950	GM06990	blood:	n/a
7	chr2:47242277-47242327	HEEpiC	esophagus:	n/a
8	chr2:47242277-47242327	HRE	kidney:	n/a
9	chr2:47242277-47242327	HRPEpiC	eye:	n/a
10	chr2:47229506-47229556	PANC-1	pancreas:	n/a
11	chr2:47257584-47257634	Hela-S3	cervix:	n/a
12	chr2:47242277-47242327	H1-hESC	embryonic stem cell:	embryo
13	chr2:47257584-47257634	IMR90	lung:	fetal
14	chr2:47242277-47242327	NHBE	bronchial:	n/a
15	chr2:47236103-47236153	PANC-1	pancreas:	n/a
16	chr2:47230407-47230457	HRE	kidney:	n/a
17	chr2:47229506-47229556	SK-N-MC	brain:	n/a
18	chr2:47230407-47230457	SAEC	small airway:	n/a
19	chr2:47236103-47236153	ProgFib	skin:	n/a
20	chr2:47257584-47257634	MCF-7	breast:	n/a
21	chr2:47261900-47261950	GM12891	blood:	n/a
22	chr2:47229506-47229556	CMK	blood:	n/a
23	chr2:47257584-47257634	HEK293	kidney:	embryo
24	chr2:47261900-47261950	LNCaP	prostate:	n/a
25	chr2:47230407-47230457	LNCaP	prostate:	n/a
26	chr2:47261900-47261950	H1-hESC	embryonic stem cell:	embryo
27	chr2:47242277-47242327	Jurkat	blood:	n/a
28	chr2:47236103-47236153	AG10803	skin:	n/a
29	chr2:47229506-47229556	HRCEpiC	kidney:	n/a
30	chr2:47230407-47230457	SK-N-SH_RA	brain:	n/a
31	chr2:47242277-47242327	HCM	heart:	n/a
32	chr2:47229506-47229556	U87	brain:	n/a
33	chr2:47230407-47230457	AG04449	skin:	fetal
34	chr2:47242277-47242327	SK-N-SH_RA	brain:	n/a
35	chr2:47242277-47242327	HCT-116	colon:	n/a
36	chr2:47236103-47236153	BE2_C	brain:	n/a
37	chr2:47261900-47261950	Jurkat	blood:	n/a
38	chr2:47257584-47257634	NHDF-neo	bronchial:	n/a
39	chr2:47261900-47261950	BE2_C	brain:	n/a
40	chr2:47261900-47261950	GM19239	blood:	n/a
41	chr2:47261900-47261950	SK-N-SH	brain:	n/a
42	chr2:47236103-47236153	HEK293	kidney:	embryo
43	chr2:47236103-47236153	SK-N-MC	brain:	n/a
44	chr2:47242277-47242327	Hela-S3	cervix:	n/a
45	chr2:47230407-47230457	AG09319	gingival:	n/a
46	chr2:47261900-47261950	CMK	blood:	n/a
47	chr2:47229506-47229556	ovcar-3	ovarian:	n/a
48	chr2:47229506-47229556	SK-N-SH_RA	brain:	n/a
49	chr2:47236103-47236153	AG04449	skin:	fetal
50	chr2:47229506-47229556	SK-N-SH	brain:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:47226060..47229055-chr2:47402454..47404695,2	K562	blood:
2	chr2:47237265..47239220-chr2:47246288..47248060,2	K562	blood:
3	chr2:47247505..47249498-chr2:47258978..47261043,2	K562	blood:
4	chr2:47252397..47254046-chr2:47254810..47257644,2	K562	blood:
5	chr2:47169747..47171383-chr2:47233270..47235359,2	MCF-7	breast:
6	chr2:47252454..47254562-chr2:47258233..47260100,2	K562	blood:
7	chr2:47246848..47250170-chr2:47255935..47259327,3	MCF-7	breast:
8	chr2:47145956..47148459-chr2:47233985..47235692,2	K562	blood:
9	chr2:47229727..47232211-chr2:47401787..47404061,4	MCF-7	breast:
10	chr2:47243930..47246637-chr2:47261701..47264377,2	MCF-7	breast:
11	chr17:57919156..57921575-chr2:47249552..47252093,2	MCF-7	breast:
12	chr2:47213696..47215367-chr2:47239730..47241544,2	MCF-7	breast:
13	chr2:47230553..47232834-chr2:47238826..47240399,2	MCF-7	breast:
14	chr2:47235723..47238887-chr2:47238980..47241912,3	MCF-7	breast:
15	chr2:47239533..47242401-chr2:47254885..47256539,3	MCF-7	breast:
16	chr2:47227819..47229844-chr2:47253559..47255515,2	K562	blood:
17	chr2:47239533..47242401-chr2:47254885..47256539,3	MCF-7	breast:
18	chr2:47236504..47238661-chr2:47402263..47404093,2	K562	blood:
19	chr2:47230310..47234237-chr2:47240805..47244981,3	K562	blood:
20	chr2:47235723..47238887-chr2:47238980..47241912,3	MCF-7	breast:
21	chr2:47223170..47225145-chr2:47400180..47402318,2	MCF-7	breast:
22	chr2:47247534..47249636-chr2:47250357..47252583,2	MCF-7	breast:
23	chr2:47233787..47236309-chr2:47402824..47405556,2	K562	blood:
24	chr2:47227228..47229377-chr2:47229384..47232229,2	K562	blood:
25	chr2:47214073..47216296-chr2:47255513..47257887,2	MCF-7	breast:
26	chr2:47230013..47232096-chr2:47242841..47244981,3	K562	blood:
27	chr2:47246848..47250170-chr2:47255935..47259327,3	MCF-7	breast:
28	chr2:47244477..47246233-chr2:47418737..47420783,2	MCF-7	breast:
29	chr2:47251517..47253255-chr2:47403256..47405239,2	K562	blood:
30	chr2:47258480..47260174-chr2:47263659..47266616,2	K562	blood:
31	chr2:47211854..47216258-chr2:47229137..47232912,5	K562	blood:
32	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
33	chr2:47250659..47252384-chr2:47268724..47270646,2	MCF-7	breast:
34	chr2:47252397..47254046-chr2:47254810..47257644,2	K562	blood:
35	chr2:47247534..47249636-chr2:47250357..47252583,2	MCF-7	breast:
36	chr2:47235055..47237269-chr2:47239920..47242362,2	MCF-7	breast:
37	chr2:47260087..47265958-chr2:47400378..47404964,8	K562	blood:
38	chr2:47262016..47264669-chr2:47272967..47274595,2	MCF-7	breast:
39	chr2:47230013..47232096-chr2:47242841..47244981,3	K562	blood:
40	chr2:47248098..47250499-chr2:47402045..47403673,2	K562	blood:
41	chr2:47232895..47237077-chr2:47401374..47404385,4	MCF-7	breast:
42	chr2:47227819..47229844-chr2:47253559..47255515,2	K562	blood:
43	chr2:47247292..47249498-chr2:47258978..47261257,2	K562	blood:
44	chr2:47226708..47229516-chr2:47234175..47237170,3	K562	blood:
45	chr2:47255574..47257278-chr2:47259885..47262274,2	MCF-7	breast:
46	chr2:47242011..47245119-chr2:47248786..47251159,3	K562	blood:
47	chr2:47220862..47225029-chr2:47401840..47405113,4	K562	blood:
48	chr2:47257326..47259699-chr2:47417975..47420606,2	MCF-7	breast:
49	chr2:47257664..47259808-chr2:47380368..47382770,2	MCF-7	breast:
50	chr2:47202754..47204715-chr2:47226558..47228586,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALM2-6	chr2:47253068-47253374	expReg_chr2_3630_-
2	lnc-CALM2-5	chr2:47253515-47254279	expReg_chr2_3631_-

No data

Variant related genes	Relation type
TTC7A	TF binding region
TTC7A	CpG island
ENSG00000068724	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000233845	chromatin interactions
ENSG00000239605	chromatin interactions

Extended variants
information (count: 1889 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1889 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17481321	chr2:47224927-47224928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369557628	chr2:47224959-47224960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191289577	chr2:47224992-47224993	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527717982	chr2:47225015-47225016	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181232302	chr2:47225038-47225039	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2163983	chr2:47225041-47225042	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs80106292	chr2:47225043-47225044	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376789801	chr2:47225046-47225047	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74886475	chr2:47225050-47225051	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571555943	chr2:47225059-47225060	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532547368	chr2:47225060-47225061	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373618469	chr2:47225082-47225083	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13432506	chr2:47225087-47225088	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs566330672	chr2:47225097-47225098	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376234186	chr2:47225122-47225123	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533577551	chr2:47225185-47225186	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17481349	chr2:47225186-47225187	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567256539	chr2:47225198-47225199	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537976366	chr2:47225228-47225229	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115117170	chr2:47225233-47225234	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185601660	chr2:47225343-47225344	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545208092	chr2:47225344-47225345	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553795827	chr2:47225350-47225351	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558750366	chr2:47225387-47225388	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111378229	chr2:47225388-47225389	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143793238	chr2:47225423-47225424	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17540462	chr2:47225426-47225427	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531606317	chr2:47225433-47225434	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534781047	chr2:47225443-47225444	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543540310	chr2:47225444-47225445	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553229821	chr2:47225451-47225452	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565024299	chr2:47225474-47225475	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532585555	chr2:47225508-47225509	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547559737	chr2:47225539-47225540	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189866620	chr2:47225587-47225588	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530380379	chr2:47225637-47225638	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548589521	chr2:47225693-47225694	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567298687	chr2:47225726-47225727	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537817718	chr2:47225753-47225754	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527838191	chr2:47225759-47225760	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549934923	chr2:47225769-47225770	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549391854	chr2:47225778-47225779	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146828608	chr2:47225786-47225787	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs736377	chr2:47225891-47225892	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182133163	chr2:47225896-47225897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188062956	chr2:47225919-47225920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78409570	chr2:47225984-47225985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554545501	chr2:47226004-47226005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576064841	chr2:47226063-47226064	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139601379	chr2:47226070-47226071	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1854 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47196600-47227800	Strong transcription	Dnd41	blood
2	chr2:47213600-47256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47214000-47262000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:47214200-47231000	Weak transcription	K562	blood
5	chr2:47214200-47235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:47214600-47242000	Strong transcription	Thymus	Thymus
7	chr2:47214800-47228600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:47214800-47229000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:47214800-47229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:47214800-47229600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:47214800-47230400	Strong transcription	Osteobl	bone
12	chr2:47214800-47231200	Weak transcription	HUVEC	blood vessel
13	chr2:47214800-47233400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:47214800-47237200	Strong transcription	Primary T cells from cord blood	blood
15	chr2:47214800-47239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:47215000-47227200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:47215200-47227800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:47215200-47243800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:47215400-47227000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:47215400-47235800	Strong transcription	Primary B cells from cord blood	blood
21	chr2:47215600-47245200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:47216200-47227200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:47216400-47228800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:47216400-47241600	Strong transcription	Fetal Thymus	thymus
25	chr2:47216600-47227400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:47216600-47229000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:47216600-47229400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:47216800-47228600	Strong transcription	Fetal Intestine Small	intestine
29	chr2:47217000-47226000	Strong transcription	NHEK	skin
30	chr2:47217000-47228000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:47217400-47228000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:47217400-47228200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:47217600-47227200	Strong transcription	NHDF-Ad	bronchial
34	chr2:47217600-47227400	Strong transcription	Fetal Stomach	stomach
35	chr2:47217800-47227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:47217800-47228200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr2:47218000-47229000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:47218400-47227200	Strong transcription	A549	lung
39	chr2:47218400-47228400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:47218400-47229400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:47218600-47227600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:47218600-47228600	Strong transcription	NHLF	lung
43	chr2:47218800-47225000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:47218800-47226800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:47218800-47226800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:47218800-47227200	Strong transcription	HepG2	liver
47	chr2:47218800-47228600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:47219000-47226800	Strong transcription	Aorta	Aorta
49	chr2:47219000-47227000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:47219000-47228200	Strong transcription	Primary hematopoietic stem cells	blood

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