Variant report

Variant	nsv613079
Chromosome Location	chr9:2012767-2059341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1738)
CpG islands
(count:1282)
Chromatin interactive
region (count:42)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1738 , 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	chr9:2022275-2022865	K562	blood:	n/a	n/a
2	ARID3A	chr9:2015069-2015470	K562	blood:	n/a	n/a
3	ARID3A	chr9:2014707-2015574	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:2017419-2017721	K562	blood:	n/a	n/a
5	ATF1	chr9:2014946-2015514	K562	blood:	n/a	n/a
6	ATF1	chr9:2023624-2023993	K562	blood:	n/a	n/a
7	ATF2	chr9:2014754-2015575	GM12878	blood:	n/a	n/a
8	ATF2	chr9:2043092-2043667	GM12878	blood:	n/a	n/a
9	ATF2	chr9:2053653-2054478	GM12878	blood:	n/a	n/a
10	ATF2	chr9:2017261-2017815	GM12878	blood:	n/a	n/a
11	ATF2	chr9:2043068-2043725	GM12878	blood:	n/a	n/a
12	ATF2	chr9:2053700-2054321	GM12878	blood:	n/a	n/a
13	ATF2	chr9:2054946-2055805	GM12878	blood:	n/a	n/a
14	ATF2	chr9:2055011-2055808	GM12878	blood:	n/a	n/a
15	ATF2	chr9:2012168-2013278	GM12878	blood:	n/a	n/a
16	ATF2	chr9:2014857-2015545	GM12878	blood:	n/a	n/a
17	ATF2	chr9:2012174-2012977	GM12878	blood:	n/a	n/a
18	ATF3	chr9:2015135-2015500	K562	blood:	n/a	chr9:2015196-2015205
19	BACH1	chr9:2016857-2018078	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr9:2014722-2015365	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr9:2016045-2016494	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr9:2015202-2015228	K562	blood:	n/a	n/a
23	BATF	chr9:2043195-2043566	GM12878	blood:	n/a	n/a
24	BATF	chr9:2015151-2015474	GM12878	blood:	n/a	n/a
25	BATF	chr9:2015231-2015430	GM12878	blood:	n/a	n/a
26	BATF	chr9:2053830-2054274	GM12878	blood:	n/a	n/a
27	BATF	chr9:2055036-2055733	GM12878	blood:	n/a	chr9:2055534-2055544
28	BATF	chr9:2043270-2043543	GM12878	blood:	n/a	n/a
29	BATF	chr9:2017409-2017661	GM12878	blood:	n/a	n/a
30	BATF	chr9:2055078-2055684	GM12878	blood:	n/a	chr9:2055534-2055544
31	BATF	chr9:2012130-2012836	GM12878	blood:	n/a	chr9:2012489-2012500 chr9:2012494-2012504
32	BCL11A	chr9:2018869-2019105	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCL11A	chr9:2055123-2055702	GM12878	blood:	n/a	n/a
34	BCL11A	chr9:2053878-2054277	GM12878	blood:	n/a	n/a
35	BCL11A	chr9:2017312-2017744	GM12878	blood:	n/a	chr9:2017349-2017358
36	BCL11A	chr9:2053866-2054307	GM12878	blood:	n/a	n/a
37	BCL11A	chr9:2055057-2055743	GM12878	blood:	n/a	n/a
38	BCL3	chr9:2055084-2055684	GM12878	blood:	n/a	n/a
39	BCL3	chr9:2012231-2012873	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
40	BCL3	chr9:2053747-2054301	GM12878	blood:	n/a	n/a
41	BCLAF1	chr9:2043238-2043879	GM12878	blood:	n/a	chr9:2043484-2043493
42	BCLAF1	chr9:2012177-2012878	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
43	BCLAF1	chr9:2014646-2015806	GM12878	blood:	n/a	chr9:2015637-2015645
44	BCLAF1	chr9:2053773-2054316	GM12878	blood:	n/a	n/a
45	BCLAF1	chr9:2012286-2012871	GM12878	blood:	n/a	chr9:2012493-2012502 chr9:2012492-2012501
46	BCLAF1	chr9:2017258-2017827	GM12878	blood:	n/a	chr9:2017349-2017358
47	BCLAF1	chr9:2043986-2044753	GM12878	blood:	n/a	n/a
48	BCLAF1	chr9:2053364-2054381	GM12878	blood:	n/a	n/a
49	BCLAF1	chr9:2016717-2017208	GM12878	blood:	n/a	chr9:2016939-2016952
50	BCLAF1	chr9:2055206-2055756	GM12878	blood:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2044055-2044105	AoSMC	blood vessel:	n/a
2	chr9:2044055-2044105	AoSMC	blood vessel:	n/a
3	chr9:2018164-2018214	AG04449	skin:	fetal
4	chr9:2047595-2047645	HCT-116	colon:	n/a
5	chr9:2018164-2018214	HIPEpiC	eye:	n/a
6	chr9:2017576-2017626	ovcar-3	ovarian:	n/a
7	chr9:2047160-2047210	HepG2	liver:	n/a
8	chr9:2047595-2047645	PrEC	prostate:	n/a
9	chr9:2044055-2044105	HEK293	kidney:	embryo
10	chr9:2017199-2017249	HRCEpiC	kidney:	n/a
11	chr9:2017576-2017626	T-47D	breast:	n/a
12	chr9:2015788-2015838	SKMC	muscle:	n/a
13	chr9:2013970-2014020	GM12892	blood:	n/a
14	chr9:2015635-2015685	NB4	blood:	n/a
15	chr9:2017576-2017626	GM06990	blood:	n/a
16	chr9:2017199-2017249	NH-A	brain:	n/a
17	chr9:2017576-2017626	HepG2	liver:	n/a
18	chr9:2022036-2022086	MCF10A-Er-Src	breast:	n/a
19	chr9:2050899-2050949	HRCEpiC	kidney:	n/a
20	chr9:2047373-2047423	GM12878	blood:	n/a
21	chr9:2016253-2016303	NHDF-neo	bronchial:	n/a
22	chr9:2024387-2024437	MCF-7	breast:	n/a
23	chr9:2016608-2016658	AG04449	skin:	fetal
24	chr9:2016340-2016390	SK-N-MC	brain:	n/a
25	chr9:2016340-2016390	AG04450	lung:	fetal
26	chr9:2047160-2047210	GM19239	blood:	n/a
27	chr9:2013970-2014020	AoSMC	blood vessel:	n/a
28	chr9:2022036-2022086	MCF-7	breast:	n/a
29	chr9:2024387-2024437	HMEC	breast:	n/a
30	chr9:2015064-2015114	PANC-1	pancreas:	n/a
31	chr9:2017884-2017934	GM12892	blood:	n/a
32	chr9:2016262-2016312	HRPEpiC	eye:	n/a
33	chr9:2016253-2016303	BJ	skin:	n/a
34	chr9:2015039-2015089	NH-A	brain:	n/a
35	chr9:2044055-2044105	SK-N-SH_RA	brain:	n/a
36	chr9:2047800-2047850	Caco-2	colon:	n/a
37	chr9:2017199-2017249	AG04450	lung:	fetal
38	chr9:2047160-2047210	SK-N-MC	brain:	n/a
39	chr9:2044055-2044105	HNPCEpiC	eye:	n/a
40	chr9:2015039-2015089	Hepatocyte	liver:	n/a
41	chr9:2024387-2024437	GM12878	blood:	n/a
42	chr9:2016262-2016312	T-47D	breast:	n/a
43	chr9:2016608-2016658	LNCaP	prostate:	n/a
44	chr9:2015064-2015114	NB4	blood:	n/a
45	chr9:2016608-2016658	AG09309	skin:	n/a
46	chr9:2015788-2015838	HPAEpiC	pulmonary alveolar:	n/a
47	chr9:2044055-2044105	H1-hESC	embryonic stem cell:	embryo
48	chr9:2015039-2015089	HUVEC	blood vessel:	n/a
49	chr9:2044055-2044105	HIPEpiC	eye:	n/a
50	chr9:2047800-2047850	LNCaP	prostate:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2016568..2019114-chr9:2030660..2033552,2	MCF-7	breast:
2	chr9:2012580..2014743-chr9:2038420..2041072,2	K562	blood:
3	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
4	chr9:2019923..2022306-chr9:2028801..2031582,2	K562	blood:
5	chr9:2027773..2030143-chr9:2034628..2037514,2	K562	blood:
6	chr14:51410677..51411191-chr9:2017301..2017897,2	Hela-S3	cervix:
7	chr9:2015281..2016857-chr9:6006319..6008670,2	K562	blood:
8	chr6:56407223..56407766-chr9:2014757..2015410,2	NB4	blood:
9	chr9:2015277..2016837-chr9:2046158..2048018,2	K562	blood:
10	chr9:2019942..2022254-chr9:2022481..2024574,2	MCF-7	breast:
11	chr9:2006630..2009336-chr9:2010265..2012993,2	K562	blood:
12	chr9:2014683..2019202-chr9:2026620..2030174,6	MCF-7	breast:
13	chr9:2016568..2019114-chr9:2030660..2033552,2	MCF-7	breast:
14	chr9:2025445..2029095-chr9:2029321..2031633,5	K562	blood:
15	chr9:2012580..2014743-chr9:2038420..2041072,2	K562	blood:
16	chr9:2038457..2040329-chr9:2040850..2042831,2	K562	blood:
17	chr9:2027542..2030484-chr9:2031269..2033941,3	K562	blood:
18	chr9:2031596..2033809-chr9:2036447..2038109,2	MCF-7	breast:
19	chr9:2013479..2017608-chr9:2017826..2022083,7	MCF-7	breast:
20	chr9:2038457..2040329-chr9:2040850..2042831,2	K562	blood:
21	chr9:2015330..2018297-chr9:2035684..2039047,3	MCF-7	breast:
22	chr8:56986335..56987104-chr9:2016512..2017193,2	Hela-S3	cervix:
23	chr9:2035867..2037863-chr9:2040595..2043579,2	MCF-7	breast:
24	chr9:2030993..2033791-chr9:2034490..2037168,2	K562	blood:
25	chr9:1981753..1984012-chr9:2012148..2014267,2	K562	blood:
26	chr9:2016166..2018399-chr9:2051368..2053339,2	MCF-7	breast:
27	chr9:2015057..2017007-chr9:2029405..2032085,2	K562	blood:
28	chr9:2025406..2027101-chr9:2041465..2044182,2	K562	blood:
29	chr9:2013479..2017608-chr9:2017826..2022083,7	MCF-7	breast:
30	chr9:2035867..2037863-chr9:2040595..2043579,2	MCF-7	breast:
31	chr9:2035810..2037705-chr9:2044015..2046964,2	K562	blood:
32	chr9:2016219..2019918-chr9:2022215..2026324,5	MCF-7	breast:
33	chr9:2014062..2016473-chr9:2041837..2045472,3	MCF-7	breast:
34	chr17:41465202..41465809-chr9:2016258..2017217,2	NB4	blood:
35	chr9:2017363..2019516-chr9:2029024..2032521,3	K562	blood:
36	chr9:2025406..2027101-chr9:2041465..2044182,2	K562	blood:
37	chr9:2015290..2017230-chr9:2035454..2037354,2	MCF-7	breast:
38	chr9:2009046..2010738-chr9:2013715..2015276,2	K562	blood:
39	chr9:2006922..2009253-chr9:2013169..2015088,2	MCF-7	breast:
40	chr9:2027542..2030484-chr9:2031269..2033941,3	K562	blood:
41	chr9:2014683..2019202-chr9:2026620..2030174,6	MCF-7	breast:
42	chr9:2018308..2020609-chr9:2085608..2087272,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-2	chr9:2041900-2042130	ENSG00000236199.1
2	lnc-VLDLR-4	chr9:2042994-2046019	NONHSAT129986
3	lnc-KIAA0020-2	chr9:2045835-2046023	ENSG00000236199.1

No data

Variant related genes	Relation type
ENSG00000236199	TF binding region
SMARCA2	TF binding region
ENSG00000236199	CpG island
SMARCA2	CpG island
ENSG00000188825	chromatin interactions
ENSG00000236199	chromatin interactions
ENSG00000183354	chromatin interactions
ENSG00000080503	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000263575	chromatin interactions
ENSG00000238650	chromatin interactions
ENSG00000151914	chromatin interactions
ENSG00000008988	chromatin interactions

Extended variants
information (count: 2100 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2100 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10120113	chr9:2012767-2012768	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578165961	chr9:2012808-2012809	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs16936585	chr9:2012864-2012865	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs140904233	chr9:2012865-2012866	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs543657295	chr9:2012893-2012894	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146734554	chr9:2012951-2012952	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571497367	chr9:2012968-2012969	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533978362	chr9:2012972-2012973	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553715966	chr9:2012983-2012984	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573378091	chr9:2013045-2013046	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs34610249	chr9:2013057-2013058	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140274004	chr9:2013066-2013067	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192313875	chr9:2013089-2013090	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145363491	chr9:2013106-2013107	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368736826	chr9:2013123-2013124	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs137864830	chr9:2013164-2013165	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184780575	chr9:2013181-2013182	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544653565	chr9:2013200-2013201	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188015553	chr9:2013223-2013224	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs180798343	chr9:2013237-2013238	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs33934538	chr9:2013264-2013265	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs397794716	chr9:2013270-2013271	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs541592946	chr9:2013364-2013365	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs76916745	chr9:2013369-2013370	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs76017800	chr9:2013382-2013383	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550257078	chr9:2013409-2013410	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs561695140	chr9:2013414-2013415	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184475003	chr9:2013442-2013443	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs189839967	chr9:2013455-2013456	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs538539006	chr9:2013486-2013487	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181438378	chr9:2013502-2013503	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs115943540	chr9:2013521-2013522	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs571500819	chr9:2013560-2013561	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527311092	chr9:2013578-2013579	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs4741636	chr9:2013580-2013581	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs186773109	chr9:2013637-2013638	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs77286305	chr9:2013638-2013639	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533208186	chr9:2013645-2013646	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190714815	chr9:2013679-2013680	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs555840165	chr9:2013780-2013781	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575775825	chr9:2013787-2013788	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549614284	chr9:2013796-2013797	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569508329	chr9:2013825-2013826	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs538613017	chr9:2013827-2013828	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143052983	chr9:2013851-2013852	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181809442	chr9:2013922-2013923	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547481626	chr9:2013926-2013927	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148374748	chr9:2013937-2013938	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575038609	chr9:2013940-2013941	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs62534881	chr9:2013942-2013943	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Peripheral t-cell lymphoma	19118030	CNVD

Chromatin state (count:2445 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2005800-2014200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:2009200-2013600	Weak transcription	Right Atrium	heart
3	chr9:2009400-2013600	Weak transcription	Liver	Liver
4	chr9:2011600-2014600	Weak transcription	Lung	lung
5	chr9:2012000-2014200	Flanking Active TSS	GM12878-XiMat	blood
6	chr9:2012600-2012800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:2012600-2012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr9:2012600-2012800	Bivalent Enhancer	HepG2	liver
9	chr9:2012600-2012800	Flanking Active TSS	K562	blood
10	chr9:2012600-2014000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:2012800-2013600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:2012800-2014200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:2012800-2014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:2012800-2014200	Enhancers	K562	blood
15	chr9:2013000-2013400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:2013000-2013600	Enhancers	NHDF-Ad	bronchial
17	chr9:2013200-2013400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:2013400-2013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:2013400-2013600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:2013400-2013600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:2013400-2013600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:2013400-2013600	Enhancers	Osteobl	bone
23	chr9:2013400-2013800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:2013400-2014000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:2013400-2014000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:2013400-2014000	Enhancers	Adipose Nuclei	Adipose
27	chr9:2013400-2014400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:2013600-2013800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:2013600-2013800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:2013600-2013800	Weak transcription	Primary T cells from cord blood	blood
31	chr9:2013600-2013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:2013600-2013800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:2013600-2013800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:2013600-2013800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:2013600-2013800	Enhancers	Hela-S3	cervix
36	chr9:2013600-2013800	Enhancers	HMEC	breast
37	chr9:2013600-2013800	Bivalent Enhancer	HUVEC	blood vessel
38	chr9:2013600-2013800	Enhancers	NHLF	lung
39	chr9:2013600-2014000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:2013600-2014000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:2013600-2014000	Enhancers	Primary hematopoietic stem cells	blood
42	chr9:2013600-2014000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr9:2013600-2014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:2013600-2014000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:2013600-2014000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:2013600-2014000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:2013600-2014000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:2013600-2014000	Enhancers	Liver	Liver
49	chr9:2013600-2014000	Enhancers	Brain Angular Gyrus	brain
50	chr9:2013600-2014000	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links