Variant report

Variant	nsv469112
Chromosome Location	chr12:11575570-11711690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1711)
CpG islands
(count:915)
Chromatin interactive
region (count:14)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1711 , 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	chr12:11639468-11639898	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:11639515-11639850	K562	blood:	n/a	n/a
3	ATF1	chr12:11639503-11639835	K562	blood:	n/a	n/a
4	ATF1	chr12:11708665-11708981	K562	blood:	n/a	n/a
5	ATF1	chr12:11698399-11698680	K562	blood:	n/a	n/a
6	ATF2	chr12:11706716-11707344	GM12878	blood:	n/a	n/a
7	ATF2	chr12:11698247-11699429	GM12878	blood:	n/a	n/a
8	ATF2	chr12:11706688-11707353	GM12878	blood:	n/a	n/a
9	ATF2	chr12:11653411-11653897	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr12:11639437-11639910	GM12878	blood:	n/a	n/a
11	ATF2	chr12:11698316-11699382	GM12878	blood:	n/a	n/a
12	ATF2	chr12:11650861-11651400	GM12878	blood:	n/a	n/a
13	ATF3	chr12:11639597-11639760	K562	blood:	n/a	n/a
14	ATF3	chr12:11639564-11639789	K562	blood:	n/a	n/a
15	BACH1	chr12:11639508-11639889	K562	blood:	n/a	n/a
16	BACH1	chr12:11639499-11639819	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr12:11650885-11651291	GM12878	blood:	n/a	n/a
18	BATF	chr12:11699038-11699314	GM12878	blood:	n/a	n/a
19	BATF	chr12:11650826-11651337	GM12878	blood:	n/a	n/a
20	BATF	chr12:11706829-11707159	GM12878	blood:	n/a	n/a
21	BATF	chr12:11639509-11639757	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:11650905-11651356	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:11650911-11651244	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:11698793-11699268	GM12878	blood:	n/a	n/a
25	BCL3	chr12:11660065-11660456	GM12878	blood:	n/a	n/a
26	BCL3	chr12:11660083-11660419	GM12878	blood:	n/a	n/a
27	BCL3	chr12:11693391-11694047	GM12878	blood:	n/a	n/a
28	BCL3	chr12:11693488-11693974	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:11650859-11651354	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:11698403-11699413	GM12878	blood:	n/a	chr12:11698542-11698549
31	BCLAF1	chr12:11698375-11699440	GM12878	blood:	n/a	chr12:11698542-11698549
32	BCLAF1	chr12:11706764-11707326	GM12878	blood:	n/a	n/a
33	BCLAF1	chr12:11706699-11707282	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:11706817-11707347	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:11651061-11651356	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:11653684-11653780	GM12878	blood:	n/a	n/a
37	BRCA1	chr12:11639382-11639827	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr12:11639503-11639896	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr12:11663162-11663190	GM12878	blood:	n/a	n/a
40	BRCA1	chr12:11695895-11695899	GM12878	blood:	n/a	n/a
41	BRCA1	chr12:11693581-11693589	GM12878	blood:	n/a	n/a
42	CBX3	chr12:11639472-11639836	K562	blood:	n/a	n/a
43	CEBPB	chr12:11639496-11639789	K562	blood:	n/a	n/a
44	CEBPB	chr12:11659187-11659749	A549	lung:	n/a	chr12:11659436-11659447
45	CEBPB	chr12:11686999-11687371	K562	blood:	n/a	chr12:11687184-11687195
46	CEBPB	chr12:11630818-11630955	A549	lung:	n/a	n/a
47	CEBPB	chr12:11687022-11687375	H1-hESC	embryonic stem cell:	n/a	chr12:11687184-11687195
48	CEBPB	chr12:11639487-11639830	K562	blood:	n/a	n/a
49	CEBPB	chr12:11659263-11659630	A549	lung:	n/a	chr12:11659436-11659447
50	CEBPB	chr12:11687001-11687753	A549	lung:	n/a	chr12:11687532-11687545 chr12:11687184-11687195

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:11653827-11653877	GM12891	blood:	n/a
2	chr12:11701293-11701343	HIPEpiC	eye:	n/a
3	chr12:11700489-11700539	PANC-1	pancreas:	n/a
4	chr12:11662075-11662125	Caco-2	colon:	n/a
5	chr12:11638772-11638822	HEK293	kidney:	embryo
6	chr12:11701293-11701343	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:11653486-11653536	ECC-1	luminal epithelium:	n/a
8	chr12:11662075-11662125	MCF10A-Er-Src	breast:	n/a
9	chr12:11638772-11638822	GM12892	blood:	n/a
10	chr12:11652096-11652146	PANC-1	pancreas:	n/a
11	chr12:11652096-11652146	ProgFib	skin:	n/a
12	chr12:11662075-11662125	NHDF-neo	bronchial:	n/a
13	chr12:11649374-11649424	HMEC	breast:	n/a
14	chr12:11701019-11701069	K562	blood:	n/a
15	chr12:11700489-11700539	CMK	blood:	n/a
16	chr12:11653827-11653877	U87	brain:	n/a
17	chr12:11653827-11653877	Hepatocyte	liver:	n/a
18	chr12:11649374-11649424	Jurkat	blood:	n/a
19	chr12:11701293-11701343	IMR90	lung:	fetal
20	chr12:11700343-11700393	T-47D	breast:	n/a
21	chr12:11709115-11709165	HCT-116	colon:	n/a
22	chr12:11653600-11653650	HepG2	liver:	n/a
23	chr12:11653278-11653328	HCT-116	colon:	n/a
24	chr12:11653827-11653877	HIPEpiC	eye:	n/a
25	chr12:11700343-11700393	RPTEC	kidney:	n/a
26	chr12:11652096-11652146	SK-N-MC	brain:	n/a
27	chr12:11700489-11700539	NHDF-neo	bronchial:	n/a
28	chr12:11653827-11653877	AoSMC	blood vessel:	n/a
29	chr12:11701019-11701069	RPTEC	kidney:	n/a
30	chr12:11662075-11662125	GM12891	blood:	n/a
31	chr12:11653827-11653877	HRPEpiC	eye:	n/a
32	chr12:11709115-11709165	T-47D	breast:	n/a
33	chr12:11700321-11700371	HCM	heart:	n/a
34	chr12:11701019-11701069	ECC-1	luminal epithelium:	n/a
35	chr12:11613647-11613697	ECC-1	luminal epithelium:	n/a
36	chr12:11701293-11701343	SK-N-SH	brain:	n/a
37	chr12:11701019-11701069	HCPEpiC	choroid plexus:	n/a
38	chr12:11649374-11649424	HepG2	liver:	n/a
39	chr12:11700343-11700393	K562	blood:	n/a
40	chr12:11709115-11709165	HL-60	blood:	n/a
41	chr12:11662075-11662125	ECC-1	luminal epithelium:	n/a
42	chr12:11701019-11701069	HCF	heart:	n/a
43	chr12:11653600-11653650	HCT-116	colon:	n/a
44	chr12:11653278-11653328	K562	blood:	n/a
45	chr12:11709115-11709165	AG04449	skin:	fetal
46	chr12:11701019-11701069	NHDF-neo	bronchial:	n/a
47	chr12:11700343-11700393	SK-N-SH	brain:	n/a
48	chr12:11613647-11613697	Hela-S3	cervix:	n/a
49	chr12:11709115-11709165	LNCaP	prostate:	n/a
50	chr12:11652096-11652146	GM06990	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:11680515..11682780-chr12:11685320..11686967,2	MCF-7	breast:
2	chr12:11706649..11707171-chr12:12186026..12186950,3	K562	blood:
3	chr12:11686911..11689463-chr12:11690530..11692218,2	MCF-7	breast:
4	chr12:11380961..11381600-chr12:11584509..11585267,2	MCF-7	breast:
5	chr12:11658320..11660895-chr12:11664652..11667061,2	MCF-7	breast:
6	chr12:11380955..11381831-chr12:11636473..11637250,2	MCF-7	breast:
7	chr12:11686911..11689463-chr12:11690530..11692218,2	MCF-7	breast:
8	chr12:11706600..11707499-chr12:12186007..12186739,3	MCF-7	breast:
9	chr12:11680515..11682780-chr12:11685320..11686967,2	MCF-7	breast:
10	chr12:10923458..10924277-chr12:11707052..11707592,2	K562	blood:
11	chr12:11678888..11681343-chr12:11685566..11687953,2	K562	blood:
12	chr12:10923542..10924154-chr12:11639667..11640247,2	MCF-7	breast:
13	chr12:11678888..11681343-chr12:11685566..11687953,2	K562	blood:
14	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV6-5	chr12:11599456-11601417	ucscGeneNc_uc001qzy_2
2	lnc-PRB1-1	chr12:11588060-11588076	XLOC_010018
3	lnc-PRB1-1	chr12:11638990-11639085	XLOC_010019
4	lnc-ETV6-1	chr12:11706500-11706616	NR_033890
5	lnc-ETV6-1	chr12:11702524-11702655	ENSG00000247157
6	lnc-ETV6-4	chr12:11634317-11634590	NONHSAT026943
7	lnc-PRB1-1	chr12:11584416-11584496	ENSG00000255790.1
8	lnc-ETV6-1	chr12:11706783-11707004	ENSG00000247157
9	lnc-PRB1-1	chr12:11584416-11584496	ENSG00000255790.1
10	lnc-ETV6-5	chr12:11603492-11603583	ucscGeneNc_uc001qzy_2
11	lnc-ETV6-5	chr12:11593791-11593922	ucscGeneNc_uc001qzy_2
12	lnc-PRB1-1	chr12:11639498-11639612	XLOC_010019
13	lnc-PRB1-1	chr12:11584416-11584496	XLOC_010018
14	lnc-ETV6-1	chr12:11708634-11709018	ENSG00000247157
15	lnc-ETV6-1	chr12:11709900-11710150	ENSG00000247157
16	lnc-PRB1-1	chr12:11638983-11639085	ENSG00000255790.1
17	lnc-PRB1-1	chr12:11638989-11639085	NONHSAT026944
18	lnc-PRB1-1	chr12:11588060-11588092	ENSG00000255790.1
19	lnc-PRB1-1	chr12:11583186-11583398	XLOC_010018
20	lnc-PRB1-1	chr12:11639497-11639612	NONHSAT026944
21	lnc-ETV6-5	chr12:11597767-11597883	ucscGeneNc_uc001qzy_2
22	lnc-ETV6-1	chr12:11709870-11709986	ENSG00000247157
23	lnc-PRB1-1	chr12:11638983-11639085	ENSG00000255790.1
24	lnc-PRB1-1	chr12:11639498-11639612	ENSG00000255790.1
25	lnc-ETV6-1	chr12:11706783-11707004	NR_033890
26	lnc-PRB1-1	chr12:11638983-11639085	ENSG00000255790.1
27	lnc-PRB1-1	chr12:11588060-11588092	ENSG00000255790.1
28	lnc-PRB1-1	chr12:11639498-11639566	ENSG00000255790.1
29	lnc-PRB1-1	chr12:11589237-11589254	ENSG00000255790.1
30	lnc-PRB1-1	chr12:11587926-11588092	ENSG00000255790.1
31	lnc-PRB1-1	chr12:11587926-11588092	XLOC_010018
32	lnc-ETV6-1	chr12:11705514-11705627	NR_033890
33	lnc-PRB2-1	chr12:11694329-11694460	ENSG00000256237
34	lnc-ETV6-1	chr12:11700964-11701294	NR_033890
35	lnc-ETV6-1	chr12:11705514-11705627	ENSG00000247157
36	lnc-PRB1-1	chr12:11583172-11583398	XLOC_010018
37	lnc-ETV6-1	chr12:11702524-11702655	NR_033890
38	lnc-ETV6-1	chr12:11706500-11706616	ENSG00000247157
39	lnc-PRB2-1	chr12:11708717-11708772	ENSG00000256237
40	lnc-PRB1-1	chr12:11639498-11639608	ENSG00000255790.1
41	lnc-ETV6-1	chr12:11708189-11710150	ENSG00000247157
42	lnc-ETV6-5	chr12:11607902-11608600	ucscGeneNc_uc001qzy_2
43	lnc-ETV6-5	chr12:11592231-11592561	ucscGeneNc_uc001qzy_2
44	lnc-PRB1-1	chr12:11584416-11584496	ENSG00000255790.1
45	lnc-PRB1-1	chr12:11583296-11583398	ENSG00000255790.1
46	lnc-ETV6-5	chr12:11596781-11596894	ucscGeneNc_uc001qzy_2
47	lnc-PRB1-1	chr12:11584416-11584496	XLOC_010018
48	lnc-PRB1-1	chr12:11584416-11584496	ENSG00000255790.1
49	lnc-ETV6-1	chr12:11700964-11701294	ENSG00000247157
50	lnc-PRB1-1	chr12:11583144-11583398	ENSG00000255790.1

No data

Variant related genes	Relation type
HIGD1AP8	TF binding region
ENSG00000270863	TF binding region
ENSG00000247157	TF binding region
ENSG00000221128	TF binding region
PRB2	TF binding region
RNU7-60P	TF binding region
ENSG00000256237	TF binding region
ENSG00000255790	TF binding region
HIGD1AP8	CpG island
ENSG00000270863	CpG island
ENSG00000247157	CpG island
ENSG00000221128	CpG island
PRB2	CpG island
RNU7-60P	CpG island
ENSG00000256237	CpG island
ENSG00000255790	CpG island
ENSG00000270863	chromatin interactions

Extended variants
information (count: 3752 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:3752 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7134383	chr12:11575570-11575571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544903684	chr12:11575574-11575575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535892746	chr12:11575647-11575648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553017639	chr12:11575658-11575659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555785476	chr12:11575685-11575686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201366932	chr12:11575741-11575742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372019605	chr12:11575746-11575747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145688194	chr12:11575806-11575807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192817794	chr12:11575815-11575816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138217254	chr12:11575817-11575818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201958799	chr12:11575848-11575849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151096003	chr12:11575851-11575852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61031120	chr12:11575853-11575854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71455380	chr12:11575863-11575864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542770568	chr12:11575871-11575872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569191244	chr12:11575873-11575874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149286507	chr12:11575925-11575926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528727266	chr12:11575932-11575933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187864142	chr12:11575933-11575934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540900559	chr12:11575988-11575989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565475006	chr12:11575990-11575991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115767460	chr12:11576030-11576031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551420671	chr12:11576034-11576035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563329189	chr12:11576068-11576069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367972975	chr12:11576079-11576080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548849452	chr12:11576108-11576109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7971658	chr12:11576123-11576124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs117934876	chr12:11576125-11576126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191334660	chr12:11576131-11576132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11054293	chr12:11576147-11576148	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183565492	chr12:11576190-11576191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545673858	chr12:11576299-11576300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369032955	chr12:11576359-11576360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116628977	chr12:11576466-11576467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556944203	chr12:11576511-11576512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199586484	chr12:11576526-11576527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398018413	chr12:11576541-11576542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61930151	chr12:11576543-11576544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189515429	chr12:11576560-11576561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562840166	chr12:11576562-11576563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139621483	chr12:11576614-11576615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541453292	chr12:11576618-11576619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561318990	chr12:11576649-11576650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573370968	chr12:11576692-11576693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181855436	chr12:11576693-11576694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112928213	chr12:11576770-11576771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540486207	chr12:11576776-11576777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373110662	chr12:11576780-11576781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565548959	chr12:11576820-11576821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143557668	chr12:11576823-11576824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	21215367	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11570000-11579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:11575800-11576200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:11584400-11584800	Enhancers	Fetal Thymus	thymus
4	chr12:11584600-11586200	Enhancers	GM12878-XiMat	blood
5	chr12:11585000-11586000	Enhancers	Stomach Mucosa	stomach
6	chr12:11585200-11586800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:11585800-11586800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:11585800-11587000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:11586000-11587200	Weak transcription	Stomach Mucosa	stomach
10	chr12:11586400-11587000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:11587400-11587600	Enhancers	Stomach Mucosa	stomach
12	chr12:11603400-11603600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:11607400-11609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:11608000-11608800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:11608200-11608800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:11608200-11609000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:11608200-11609000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:11608200-11609200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:11608400-11608800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:11608400-11609000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:11608600-11608800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:11608800-11609000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:11608800-11613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:11609000-11613800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:11609200-11613000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:11609400-11610800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:11609600-11610800	Enhancers	NHEK	skin
28	chr12:11609800-11610400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:11610800-11612800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:11610800-11613000	Weak transcription	NHEK	skin
31	chr12:11612600-11616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:11612800-11614800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:11612800-11616000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:11613000-11614400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:11613000-11614800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:11613000-11614800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:11613000-11614800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:11613000-11614800	Enhancers	HMEC	breast
39	chr12:11613000-11614800	Enhancers	NHEK	skin
40	chr12:11613000-11615200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:11613200-11614800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:11613200-11614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:11613600-11614200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:11613800-11614800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:11614000-11614800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:11614400-11614800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:11614800-11615800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:11614800-11616000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:11614800-11618800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:11615200-11618400	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links