Variant report

Variant	nsv899574
Chromosome Location	chr12:123316566-123360151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2154)
CpG islands
(count:3421)
Chromatin interactive
region (count:107)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:2154 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123347476-123347522	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123350353-123350550	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:123320826-123321038	K562	blood:	n/a	n/a
4	ARID3A	chr12:123351032-123351227	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:123320755-123321036	HepG2	liver:	n/a	n/a
6	ATF1	chr12:123321174-123321429	K562	blood:	n/a	n/a
7	ATF1	chr12:123341887-123342008	K562	blood:	n/a	n/a
8	ATF1	chr12:123316788-123316803	K562	blood:	n/a	n/a
9	ATF2	chr12:123320995-123321471	GM12878	blood:	n/a	n/a
10	ATF2	chr12:123356505-123357148	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr12:123356483-123357095	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr12:123360126-123360795	GM12878	blood:	n/a	n/a
13	ATF2	chr12:123360019-123360861	GM12878	blood:	n/a	n/a
14	ATF2	chr12:123356194-123356888	GM12878	blood:	n/a	n/a
15	BACH1	chr12:123318976-123319114	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr12:123356432-123357245	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr12:123344894-123345025	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr12:123356254-123356541	GM12878	blood:	n/a	n/a
19	BATF	chr12:123356270-123356667	GM12878	blood:	n/a	n/a
20	BATF	chr12:123360130-123360752	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:123356651-123356982	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr12:123356652-123356998	H1-hESC	embryonic stem cell:	n/a	n/a
23	BCL3	chr12:123346572-123346919	A549	lung:	n/a	n/a
24	BCL3	chr12:123360146-123360804	GM12878	blood:	n/a	n/a
25	BCL3	chr12:123348905-123350084	K562	blood:	n/a	chr12:123349145-123349154
26	BCL3	chr12:123350303-123350545	K562	blood:	n/a	n/a
27	BCL3	chr12:123350196-123351056	K562	blood:	n/a	n/a
28	BCL3	chr12:123348698-123349233	A549	lung:	n/a	chr12:123349145-123349154
29	BCLAF1	chr12:123360094-123360868	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:123356243-123356913	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:123344704-123345219	GM12878	blood:	n/a	chr12:123344765-123344778
32	BHLHE40	chr12:123342038-123342133	HepG2	liver:	n/a	n/a
33	BHLHE40	chr12:123350239-123350606	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:123322665-123322844	K562	blood:	n/a	n/a
35	BHLHE40	chr12:123320768-123320774	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:123350217-123350619	K562	blood:	n/a	n/a
37	BHLHE40	chr12:123320030-123320402	GM12878	blood:	n/a	chr12:123320080-123320096
38	BHLHE40	chr12:123350263-123350572	HepG2	liver:	n/a	n/a
39	BHLHE40	chr12:123344895-123345100	GM12878	blood:	n/a	n/a
40	BHLHE40	chr12:123352225-123352412	K562	blood:	n/a	n/a
41	BHLHE40	chr12:123320002-123320176	K562	blood:	n/a	chr12:123320080-123320096
42	BHLHE40	chr12:123350249-123350568	A549	lung:	n/a	n/a
43	BHLHE40	chr12:123321126-123321428	K562	blood:	n/a	n/a
44	BHLHE40	chr12:123344854-123345046	K562	blood:	n/a	n/a
45	BHLHE40	chr12:123350210-123350566	HepG2	liver:	n/a	n/a
46	BHLHE40	chr12:123350181-123351237	HepG2	liver:	n/a	n/a
47	BHLHE40	chr12:123320693-123320914	K562	blood:	n/a	n/a
48	BRCA1	chr12:123344922-123344970	HepG2	liver:	n/a	n/a
49	CBX3	chr12:123344804-123345154	K562	blood:	n/a	n/a
50	CCNT2	chr12:123349947-123350687	K562	blood:	n/a	n/a

(count:3421 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123341665-123341715	SK-N-SH	brain:	n/a
2	chr12:123334709-123334759	BE2_C	brain:	n/a
3	chr12:123335357-123335407	HUVEC	blood vessel:	n/a
4	chr12:123320611-123320661	CMK	blood:	n/a
5	chr12:123326461-123326511	IMR90	lung:	fetal
6	chr12:123341665-123341715	SK-N-SH	brain:	n/a
7	chr12:123334709-123334759	BE2_C	brain:	n/a
8	chr12:123335357-123335407	HUVEC	blood vessel:	n/a
9	chr12:123320611-123320661	CMK	blood:	n/a
10	chr12:123326461-123326511	IMR90	lung:	fetal
11	chr12:123351126-123351176	AG10803	skin:	n/a
12	chr12:123319906-123319956	PANC-1	pancreas:	n/a
13	chr12:123351126-123351176	HIPEpiC	eye:	n/a
14	chr12:123336568-123336618	HL-60	blood:	n/a
15	chr12:123341665-123341715	AG04450	lung:	fetal
16	chr12:123351868-123351918	ECC-1	luminal epithelium:	n/a
17	chr12:123333035-123333085	ProgFib	skin:	n/a
18	chr12:123336568-123336618	U87	brain:	n/a
19	chr12:123320915-123320965	GM12892	blood:	n/a
20	chr12:123319981-123320031	AG09319	gingival:	n/a
21	chr12:123334513-123334563	Hepatocyte	liver:	n/a
22	chr12:123324826-123324876	GM12891	blood:	n/a
23	chr12:123358583-123358633	Hela-S3	cervix:	n/a
24	chr12:123319250-123319300	U87	brain:	n/a
25	chr12:123350969-123351019	AG04450	lung:	fetal
26	chr12:123319981-123320031	NHDF-neo	bronchial:	n/a
27	chr12:123341735-123341785	HCPEpiC	choroid plexus:	n/a
28	chr12:123349952-123350002	NHBE	bronchial:	n/a
29	chr12:123349952-123350002	H1-hESC	embryonic stem cell:	embryo
30	chr12:123352774-123352824	AG09319	gingival:	n/a
31	chr12:123319250-123319300	HIPEpiC	eye:	n/a
32	chr12:123339291-123339341	U87	brain:	n/a
33	chr12:123339291-123339341	PFSK-1	brain:	n/a
34	chr12:123319250-123319300	NH-A	brain:	n/a
35	chr12:123351798-123351848	MCF10A-Er-Src	breast:	n/a
36	chr12:123344689-123344739	SK-N-MC	brain:	n/a
37	chr12:123334709-123334759	U87	brain:	n/a
38	chr12:123319366-123319416	H1-hESC	embryonic stem cell:	embryo
39	chr12:123324826-123324876	BE2_C	brain:	n/a
40	chr12:123320611-123320661	MCF-7	breast:	n/a
41	chr12:123333205-123333255	HL-60	blood:	n/a
42	chr12:123319339-123319389	HRPEpiC	eye:	n/a
43	chr12:123351126-123351176	HRCEpiC	kidney:	n/a
44	chr12:123319900-123319950	HepG2	liver:	n/a
45	chr12:123357128-123357178	HIPEpiC	eye:	n/a
46	chr12:123335357-123335407	Jurkat	blood:	n/a
47	chr12:123352600-123352650	HAEpiC	amniotic membrane:	n/a
48	chr12:123335357-123335407	LNCaP	prostate:	n/a
49	chr12:123320611-123320661	HEEpiC	esophagus:	n/a
50	chr12:123341681-123341731	AG10803	skin:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:123319135..123321319-chr3:160936978..160939441,2	MCF-7	breast:
2	chr12:123311180..123313487-chr12:123316149..123318304,2	K562	blood:
3	chr12:123278336..123278918-chr12:123327242..123327818,2	MCF-7	breast:
4	chr12:123213106..123215069-chr12:123321149..123322935,2	MCF-7	breast:
5	chr12:123347975..123349618-chr12:123459301..123462302,3	K562	blood:
6	chr12:123285953..123287953-chr12:123322856..123324793,2	MCF-7	breast:
7	chr12:123321334..123323006-chr12:123430937..123432965,2	MCF-7	breast:
8	chr12:123324046..123325972-chr12:123462562..123465553,2	MCF-7	breast:
9	chr12:123344434..123345913-chr12:123436269..123437707,10	MCF-7	breast:
10	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
11	chr12:123322572..123324724-chr12:123716443..123718391,2	K562	blood:
12	chr12:123317692..123320507-chr12:123463597..123466562,3	MCF-7	breast:
13	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:
14	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
15	chr12:123349951..123350563-chr12:123436556..123437356,2	MCF-7	breast:
16	chr12:123344900..123345435-chr12:123431652..123432233,2	K562	blood:
17	chr12:123358138..123360225-chr12:123360853..123363329,2	MCF-7	breast:
18	chr11:65265725..65268508-chr12:123341267..123343973,2	MCF-7	breast:
19	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
20	chr12:123356440..123358585-chr12:123360097..123361963,2	K562	blood:
21	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
22	chr12:123278169..123279892-chr12:123315469..123318246,2	MCF-7	breast:
23	chr12:123357674..123359965-chr12:123366472..123369443,2	MCF-7	breast:
24	chr12:123321572..123324516-chr12:123371831..123374446,2	MCF-7	breast:
25	chr12:123356529..123360323-chr12:123367921..123371522,3	K562	blood:
26	chr12:123329996..123331775-chr12:123464843..123467149,2	K562	blood:
27	chr12:123319262..123321924-chr12:123450152..123453465,3	K562	blood:
28	chr12:123318894..123320705-chr12:123342894..123344549,3	MCF-7	breast:
29	chr12:123325084..123327709-chr12:123347219..123349157,2	MCF-7	breast:
30	chr12:123255502..123257176-chr12:123324408..123327320,2	MCF-7	breast:
31	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
32	chr12:123327852..123329476-chr12:123331474..123333275,2	K562	blood:
33	chr12:123320203..123322846-chr12:123716653..123718204,2	MCF-7	breast:
34	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
35	chr12:123324539..123327696-chr12:123450573..123452120,3	MCF-7	breast:
36	chr12:123331465..123333467-chr13:94634904..94637688,2	MCF-7	breast:
37	chr12:123318632..123320877-chr12:123355595..123357643,2	MCF-7	breast:
38	chr12:123330610..123333935-chr12:123339820..123343037,3	MCF-7	breast:
39	chr12:123349944..123351476-chr12:123367250..123369233,2	K562	blood:
40	chr12:123327206..123329436-chr12:123341380..123343858,2	MCF-7	breast:
41	chr12:123313753..123316707-chr12:123318570..123321464,4	MCF-7	breast:
42	chr12:123355640..123358495-chr12:123449218..123452212,2	MCF-7	breast:
43	chr12:123356440..123358585-chr12:123360097..123361963,2	K562	blood:
44	chr12:123344929..123347895-chr12:123458197..123461633,3	MCF-7	breast:
45	chr12:123340470..123342158-chr12:123459989..123462897,2	K562	blood:
46	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:
47	chr12:123311285..123313219-chr12:123325523..123328002,2	MCF-7	breast:
48	chr12:123324513..123326875-chr12:123435236..123437199,2	MCF-7	breast:
49	chr12:123358923..123360581-chr12:123375537..123377864,2	MCF-7	breast:
50	chr12:123329055..123330600-chr12:123330820..123333817,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIP1R-1	chr12:123351248-123351568	ENSG00000256152.2
2	lnc-VPS37B-1	chr12:123348100-123348489	NONHSAT031539
3	lnc-HIP1R-1	chr12:123349882-123350044	ENSG00000256152.2
4	lnc-CCDC62-2	chr12:123346263-123346544	NONHSAT031538
5	lnc-CCDC62-2	chr12:123346651-123347033	NONHSAT031538

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VPS37B	hsa-miR-34a-5p	chr12:123350129-123350122
2	VPS37B	hsa-miR-34a-5p	chr12:123350123-123350144

Variant related genes	Relation type
HIP1R	TF binding region
VPS37B	TF binding region
ENSG00000256152	TF binding region
HIP1R	CpG island
VPS37B	CpG island
ENSG00000256152	CpG island
ENSG00000139726	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000169251	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000130783	chromatin interactions
ENSG00000111325	chromatin interactions

Extended variants
information (count: 2101 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2101 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4759355	chr12:123316566-123316567	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368063336	chr12:123316599-123316600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542217756	chr12:123316601-123316602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73421635	chr12:123316603-123316604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140073035	chr12:123316616-123316617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368318408	chr12:123316618-123316619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142903135	chr12:123316653-123316654	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79868187	chr12:123316799-123316800	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs4759354	chr12:123316800-123316801	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367804194	chr12:123316835-123316836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4759353	chr12:123316881-123316882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370887211	chr12:123316882-123316883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553701051	chr12:123316993-123316994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138589700	chr12:123317015-123317016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550372737	chr12:123317072-123317073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2880678	chr12:123317099-123317100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2343685	chr12:123317182-123317183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185474961	chr12:123317199-123317200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190087102	chr12:123317200-123317201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372452718	chr12:123317248-123317249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533813673	chr12:123317265-123317266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551983391	chr12:123317270-123317271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570601669	chr12:123317288-123317289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538401714	chr12:123317293-123317294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556818146	chr12:123317312-123317313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575151708	chr12:123317335-123317336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55909978	chr12:123317431-123317432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535757741	chr12:123317446-123317447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554474913	chr12:123317489-123317490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572344122	chr12:123317538-123317539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546216244	chr12:123317559-123317560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557928920	chr12:123317564-123317565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576128831	chr12:123317570-123317571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111610070	chr12:123317577-123317578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558244806	chr12:123317586-123317587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181292334	chr12:123317603-123317604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144444839	chr12:123317648-123317649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537560955	chr12:123317654-123317655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560445027	chr12:123317671-123317672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112143018	chr12:123317685-123317686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73421642	chr12:123317740-123317741	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563665984	chr12:123317759-123317760	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs570534470	chr12:123317791-123317792	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs369508011	chr12:123317843-123317844	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs372091127	chr12:123317889-123317890	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs185990500	chr12:123317892-123317893	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549935217	chr12:123317910-123317911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs73421644	chr12:123317973-123317974	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs367687429	chr12:123318000-123318001	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs554158853	chr12:123318005-123318006	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2721 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123305800-123318800	Weak transcription	Pancreas	Pancrea
2	chr12:123310400-123319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:123311000-123318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:123311200-123318200	Weak transcription	Fetal Brain Female	brain
5	chr12:123311200-123319000	Weak transcription	Aorta	Aorta
6	chr12:123311400-123318800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:123311600-123318800	Weak transcription	NHDF-Ad	bronchial
8	chr12:123312200-123318800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:123312400-123318800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:123312400-123318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:123312400-123318800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:123312400-123318800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:123312400-123318800	Weak transcription	Brain Substantia Nigra	brain
14	chr12:123312600-123318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:123313800-123319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:123315600-123319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:123315800-123316600	Weak transcription	Stomach Mucosa	stomach
18	chr12:123315800-123318800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:123315800-123318800	Weak transcription	A549	lung
20	chr12:123315800-123318800	Weak transcription	K562	blood
21	chr12:123315800-123318800	Weak transcription	NHLF	lung
22	chr12:123316000-123318800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:123316000-123318800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:123316000-123318800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:123316000-123318800	Weak transcription	Placenta	Placenta
26	chr12:123316000-123318800	Weak transcription	NHEK	skin
27	chr12:123316200-123318000	Weak transcription	Hela-S3	cervix
28	chr12:123316200-123318800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:123316200-123318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123316200-123318800	Weak transcription	HMEC	breast
31	chr12:123316400-123319200	Weak transcription	Gastric	stomach
32	chr12:123316600-123317000	Enhancers	Stomach Mucosa	stomach
33	chr12:123317000-123318000	Weak transcription	Stomach Mucosa	stomach
34	chr12:123317800-123318200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:123317800-123318800	Enhancers	Fetal Brain Male	brain
36	chr12:123318000-123318200	Enhancers	Stomach Mucosa	stomach
37	chr12:123318000-123318200	Enhancers	Hela-S3	cervix
38	chr12:123318200-123318400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr12:123318200-123318400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr12:123318200-123318600	Weak transcription	Stomach Mucosa	stomach
41	chr12:123318200-123318600	Weak transcription	Hela-S3	cervix
42	chr12:123318200-123318800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:123318200-123318800	Enhancers	Fetal Brain Female	brain
44	chr12:123318400-123318600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:123318400-123318600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr12:123318400-123318600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:123318400-123318600	Weak transcription	HSMMtube	muscle
48	chr12:123318400-123318800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:123318400-123318800	Weak transcription	Brain Anterior Caudate	brain
50	chr12:123318400-123319000	Enhancers	Cortex derived primary cultured neurospheres	brain

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