Variant report

Variant	esv3342155
Chromosome Location	chr12:120635177-120636532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:120635149-120635617	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:120636201-120636574	T-47D	breast:	n/a	n/a
3	CTCF	chr12:120636500-120636650	A549	lung:	n/a	n/a
4	EP300	chr12:120636124-120636648	T-47D	breast:	n/a	n/a
5	HEY1	chr12:120632022-120635678	K562	blood:	n/a	chr12:120632300-120632315 chr12:120632461-120632476 chr12:120632302-120632317
6	HEY1	chr12:120636162-120637448	K562	blood:	n/a	n/a
7	HEY1	chr12:120635680-120639556	K562	blood:	n/a	n/a
8	HEY1	chr12:120636057-120638020	HepG2	liver:	n/a	n/a
9	HEY1	chr12:120635715-120635982	K562	blood:	n/a	n/a
10	HEY1	chr12:120634615-120635677	HepG2	liver:	n/a	n/a
11	HEY1	chr12:120634508-120635667	HepG2	liver:	n/a	n/a
12	HEY1	chr12:120634275-120635627	K562	blood:	n/a	n/a
13	HEY1	chr12:120636156-120637525	HepG2	liver:	n/a	n/a
14	HEY1	chr12:120635734-120635940	HepG2	liver:	n/a	n/a
15	MAFF	chr12:120635307-120635716	K562	blood:	n/a	n/a
16	MAX	chr12:120636224-120636608	K562	blood:	n/a	n/a
17	PML	chr12:120634636-120635694	K562	blood:	n/a	n/a
18	PML	chr12:120636084-120637114	K562	blood:	n/a	n/a
19	PML	chr12:120632031-120635797	GM12878	blood:	n/a	chr12:120633279-120633287
20	PML	chr12:120632133-120635684	K562	blood:	n/a	chr12:120633279-120633287
21	POLR2A	chr12:120632301-120639241	K562	blood:	n/a	n/a
22	POLR2A	chr12:120635003-120635608	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:120632203-120639596	K562	blood:	n/a	n/a
24	POLR2A	chr12:120634650-120636075	K562	blood:	n/a	n/a
25	POLR2A	chr12:120632176-120636007	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr12:120634492-120635375	A549	lung:	n/a	n/a
27	POLR2A	chr12:120632269-120635730	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:120636042-120639720	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr12:120632260-120635714	GM12891	blood:	n/a	n/a
30	POLR2A	chr12:120636323-120636955	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:120635717-120635957	HCT-116	colon:	n/a	n/a
32	POLR2A	chr12:120635725-120636035	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:120632286-120635888	K562	blood:	n/a	n/a
34	POLR2A	chr12:120632082-120639796	U87	brain:	n/a	n/a
35	POLR2A	chr12:120635659-120635942	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:120636039-120639896	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:120634654-120635656	HL-60	blood:	n/a	n/a
38	POLR2A	chr12:120635023-120635275	A549	lung:	n/a	n/a
39	POLR2A	chr12:120632281-120639624	K562	blood:	n/a	n/a
40	POLR2A	chr12:120636228-120636649	HepG2	liver:	n/a	n/a
41	POLR2A	chr12:120636307-120636538	HepG2	liver:	n/a	n/a
42	POLR2A	chr12:120632057-120635628	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr12:120635689-120635955	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:120635721-120635857	A549	lung:	n/a	n/a
45	POLR2A	chr12:120636207-120639650	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:120634644-120636054	HL-60	blood:	n/a	n/a
47	POLR2A	chr12:120635720-120635921	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:120632135-120635622	GM12891	blood:	n/a	n/a
49	POLR2A	chr12:120634652-120635614	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr12:120635258-120635261	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120635258-120635308	AG10803	skin:	n/a
2	chr12:120635258-120635308	HCPEpiC	choroid plexus:	n/a
3	chr12:120635258-120635308	A549	lung:	n/a
4	chr12:120635258-120635308	NHBE	bronchial:	n/a
5	chr12:120635258-120635308	SK-N-MC	brain:	n/a
6	chr12:120635258-120635308	HIPEpiC	eye:	n/a
7	chr12:120635258-120635308	HNPCEpiC	eye:	n/a
8	chr12:120635258-120635308	HAEpiC	amniotic membrane:	n/a
9	chr12:120635258-120635308	NT2-D1	testis:	n/a
10	chr12:120635258-120635308	HCF	heart:	n/a
11	chr12:120635258-120635308	Hela-S3	cervix:	n/a
12	chr12:120635258-120635308	LNCaP	prostate:	n/a
13	chr12:120635258-120635308	SK-N-SH_RA	brain:	n/a
14	chr12:120635258-120635308	HUVEC	blood vessel:	n/a
15	chr12:120635258-120635308	HRPEpiC	eye:	n/a
16	chr12:120635258-120635308	HCT-116	colon:	n/a
17	chr12:120635258-120635308	GM06990	blood:	n/a
18	chr12:120635258-120635308	SAEC	small airway:	n/a
19	chr12:120635258-120635308	GM19239	blood:	n/a
20	chr12:120635258-120635308	ProgFib	skin:	n/a
21	chr12:120635258-120635308	HCM	heart:	n/a
22	chr12:120635258-120635308	Jurkat	blood:	n/a
23	chr12:120635258-120635308	AoSMC	blood vessel:	n/a
24	chr12:120635258-120635308	PANC-1	pancreas:	n/a
25	chr12:120635258-120635308	RPTEC	kidney:	n/a
26	chr12:120635258-120635308	ECC-1	luminal epithelium:	n/a
27	chr12:120635258-120635308	HEEpiC	esophagus:	n/a
28	chr12:120635258-120635308	IMR90	lung:	fetal
29	chr12:120635258-120635308	GM12892	blood:	n/a
30	chr12:120635258-120635308	U87	brain:	n/a
31	chr12:120635258-120635308	HEK293	kidney:	embryo
32	chr12:120635258-120635308	AG09319	gingival:	n/a
33	chr12:120635258-120635308	AG04450	lung:	fetal
34	chr12:120635258-120635308	GM12878	blood:	n/a
35	chr12:120635258-120635308	HL-60	blood:	n/a
36	chr12:120635258-120635308	PrEC	prostate:	n/a
37	chr12:120635258-120635308	AG04449	skin:	fetal
38	chr12:120635258-120635308	NH-A	brain:	n/a
39	chr12:120635258-120635308	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:120635258-120635308	BJ	skin:	n/a
41	chr12:120635258-120635308	MCF-7	breast:	n/a
42	chr12:120635258-120635308	ovcar-3	ovarian:	n/a
43	chr12:120635258-120635308	CMK	blood:	n/a
44	chr12:120635258-120635308	K562	blood:	n/a
45	chr12:120635258-120635308	SK-N-SH	brain:	n/a
46	chr12:120635258-120635308	SKMC	muscle:	n/a
47	chr12:120635258-120635308	H1-hESC	embryonic stem cell:	embryo
48	chr12:120635258-120635308	GM12891	blood:	n/a
49	chr12:120635258-120635308	MCF10A-Er-Src	breast:	n/a
50	chr12:120635258-120635308	HRCEpiC	kidney:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:
2	chr12:120574814..120578175-chr12:120636472..120639249,3	MCF-7	breast:
3	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:
4	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
5	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
6	chr12:120636466..120640337-chr12:120966729..120969535,3	MCF-7	breast:
7	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
8	chr12:120604047..120606522-chr12:120634932..120636493,2	MCF-7	breast:
9	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
10	chr12:120633014..120635461-chr17:64959552..64961225,2	MCF-7	breast:
11	chr12:120575987..120578062-chr12:120634816..120636487,2	K562	blood:
12	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
13	chr12:120636494..120638550-chr12:120756430..120759190,2	MCF-7	breast:
14	chr12:120636290..120639093-chr17:59486664..59489640,2	MCF-7	breast:
15	chr12:120634142..120641127-chr12:120698850..120705439,14	K562	blood:
16	chr12:120552903..120558662-chr12:120635855..120639972,12	MCF-7	breast:

No data

Variant related genes	Relation type
PXN-AS1	TF binding region
GCN1L1	TF binding region
RPLP0	TF binding region
PXN-AS1	CpG island
GCN1L1	CpG island
RPLP0	CpG island
ENSG00000170855	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000123009	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000111737	chromatin interactions
ENSG00000089154	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000075461	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17849426	chr12:120635181-120635182	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs112094735	chr12:120635189-120635190	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs200799516	chr12:120635197-120635198	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs202040016	chr12:120635224-120635225	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs543250494	chr12:120635231-120635232	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs530128642	chr12:120635244-120635245	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs368246760	chr12:120635245-120635246	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs563131457	chr12:120635255-120635256	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs34335447	chr12:120635264-120635265	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs372111192	chr12:120635265-120635266	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs376792519	chr12:120635268-120635269	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs375117926	chr12:120635292-120635293	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs546079611	chr12:120635305-120635306	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs200853016	chr12:120635309-120635310	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs559344926	chr12:120635369-120635370	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs563125270	chr12:120635425-120635426	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs547849020	chr12:120635448-120635449	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs193030823	chr12:120635497-120635498	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs138654202	chr12:120635503-120635504	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs61311973	chr12:120635512-120635513	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs149316368	chr12:120635538-120635539	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs550444546	chr12:120635547-120635548	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs570268222	chr12:120635553-120635554	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs184242008	chr12:120635559-120635560	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs75001099	chr12:120635589-120635590	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs566215257	chr12:120635612-120635613	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs535049942	chr12:120635623-120635624	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs188573174	chr12:120635647-120635648	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs148466198	chr12:120635691-120635692	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs570610648	chr12:120635718-120635719	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs201124742	chr12:120635738-120635739	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs57937300	chr12:120635739-120635740	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs556986908	chr12:120635747-120635748	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs528888750	chr12:120635749-120635750	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs545645031	chr12:120635754-120635755	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs144095948	chr12:120635780-120635781	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs528352633	chr12:120635809-120635810	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs369813826	chr12:120635810-120635811	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs7299429	chr12:120635847-120635848	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561664615	chr12:120635875-120635876	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs548755173	chr12:120635891-120635892	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs181194598	chr12:120635924-120635925	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs376681062	chr12:120635964-120635965	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs570528542	chr12:120635972-120635973	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs371780645	chr12:120635973-120635974	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs532766260	chr12:120636011-120636012	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs145978444	chr12:120636013-120636014	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs552476066	chr12:120636044-120636045	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs3742040	chr12:120636048-120636049	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535000887	chr12:120636056-120636057	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Autism	22495311	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
Sudden cardiac death	19188705	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120633000-120635400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:120633000-120637200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:120633000-120637800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:120633200-120635400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:120633200-120635400	Weak transcription	Fetal Heart	heart
6	chr12:120633200-120635800	Weak transcription	Right Atrium	heart
7	chr12:120633200-120636200	Genic enhancers	NHLF	lung
8	chr12:120633200-120638400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:120633400-120635800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:120633400-120636200	Genic enhancers	Adipose Nuclei	Adipose
11	chr12:120633400-120636200	Strong transcription	Fetal Lung	lung
12	chr12:120633400-120636400	Weak transcription	Fetal Brain Male	brain
13	chr12:120633400-120636800	Strong transcription	Fetal Stomach	stomach
14	chr12:120633400-120637200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:120633400-120637600	Genic enhancers	Liver	Liver
16	chr12:120633600-120635200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:120633600-120635200	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:120633600-120635400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:120633600-120635800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:120633600-120636000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:120633600-120636200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:120633600-120636200	Genic enhancers	HMEC	breast
23	chr12:120633600-120636400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:120633600-120636400	Strong transcription	Lung	lung
25	chr12:120633600-120637000	Genic enhancers	Fetal Thymus	thymus
26	chr12:120633600-120638000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr12:120633600-120638200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:120633800-120635400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:120633800-120635400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:120633800-120635800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:120633800-120635800	Strong transcription	Spleen	Spleen
32	chr12:120633800-120636200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:120633800-120636200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:120633800-120636200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:120633800-120636200	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:120633800-120636200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:120633800-120636200	Strong transcription	Small Intestine	intestine
38	chr12:120633800-120636200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:120633800-120636200	Strong transcription	Thymus	Thymus
40	chr12:120633800-120636400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:120633800-120636400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:120633800-120636400	Genic enhancers	HepG2	liver
43	chr12:120633800-120636600	Strong transcription	Colonic Mucosa	Colon
44	chr12:120633800-120636800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:120633800-120636800	Strong transcription	Brain Anterior Caudate	brain
46	chr12:120633800-120636800	Strong transcription	Brain Hippocampus Middle	brain
47	chr12:120633800-120636800	Strong transcription	Fetal Intestine Large	intestine
48	chr12:120633800-120637200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:120633800-120637400	Strong transcription	Fetal Kidney	kidney
50	chr12:120633800-120637600	Genic enhancers	Placenta	Placenta

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