Variant report

Variant	rs11050138
Chromosome Location	chr12:29376433-29376434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:29376400-29376703	HepG2	liver:	n/a	chr12:29376549-29376560 chr12:29376549-29376562
2	CEBPB	chr12:29376406-29376707	A549	lung:	n/a	chr12:29376549-29376560 chr12:29376549-29376562

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:29376421-29376471	U87	brain:	n/a
2	chr12:29376421-29376471	MCF10A-Er-Src	breast:	n/a
3	chr12:29376421-29376471	MCF-7	breast:	n/a
4	chr12:29376421-29376471	HL-60	blood:	n/a
5	chr12:29376421-29376471	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:29376421-29376471	PrEC	prostate:	n/a
7	chr12:29376421-29376471	HUVEC	blood vessel:	n/a
8	chr12:29376421-29376471	ECC-1	luminal epithelium:	n/a
9	chr12:29376421-29376471	CMK	blood:	n/a
10	chr12:29376421-29376471	SKMC	muscle:	n/a
11	chr12:29376421-29376471	BJ	skin:	n/a
12	chr12:29376421-29376471	Jurkat	blood:	n/a
13	chr12:29376421-29376471	GM06990	blood:	n/a
14	chr12:29376421-29376471	HepG2	liver:	n/a
15	chr12:29376421-29376471	IMR90	lung:	fetal
16	chr12:29376421-29376471	HCF	heart:	n/a
17	chr12:29376421-29376471	HAEpiC	amniotic membrane:	n/a
18	chr12:29376421-29376471	SK-N-SH	brain:	n/a
19	chr12:29376421-29376471	NHBE	bronchial:	n/a
20	chr12:29376421-29376471	Caco-2	colon:	n/a
21	chr12:29376421-29376471	HCPEpiC	choroid plexus:	n/a
22	chr12:29376421-29376471	AG04449	skin:	fetal
23	chr12:29376421-29376471	HRE	kidney:	n/a
24	chr12:29376421-29376471	HEEpiC	esophagus:	n/a
25	chr12:29376421-29376471	NB4	blood:	n/a
26	chr12:29376421-29376471	HMEC	breast:	n/a
27	chr12:29376421-29376471	T-47D	breast:	n/a
28	chr12:29376421-29376471	GM12892	blood:	n/a
29	chr12:29376421-29376471	HEK293	kidney:	embryo
30	chr12:29376421-29376471	K562	blood:	n/a
31	chr12:29376421-29376471	AG09319	gingival:	n/a
32	chr12:29376421-29376471	Hela-S3	cervix:	n/a
33	chr12:29376421-29376471	ovcar-3	ovarian:	n/a
34	chr12:29376421-29376471	HNPCEpiC	eye:	n/a
35	chr12:29376421-29376471	HIPEpiC	eye:	n/a
36	chr12:29376421-29376471	A549	lung:	n/a
37	chr12:29376421-29376471	GM12878	blood:	n/a
38	chr12:29376421-29376471	ProgFib	skin:	n/a
39	chr12:29376421-29376471	SAEC	small airway:	n/a
40	chr12:29376421-29376471	HCT-116	colon:	n/a
41	chr12:29376421-29376471	SK-N-SH_RA	brain:	n/a
42	chr12:29376421-29376471	Hepatocyte	liver:	n/a
43	chr12:29376421-29376471	SK-N-MC	brain:	n/a
44	chr12:29376421-29376471	PFSK-1	brain:	n/a
45	chr12:29376421-29376471	RPTEC	kidney:	n/a
46	chr12:29376421-29376471	AoSMC	blood vessel:	n/a
47	chr12:29376421-29376471	AG10803	skin:	n/a
48	chr12:29376421-29376471	AG04450	lung:	fetal
49	chr12:29376421-29376471	LNCaP	prostate:	n/a
50	chr12:29376421-29376471	NT2-D1	testis:	n/a

No data

Variant related genes	Relation type
FAR2	TF binding region
FAR2	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11050109	1.00[CEU][hapmap]
rs11050134	0.90[EUR][1000 genomes]
rs11834972	1.00[CEU][hapmap]
rs12299091	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299148	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299228	0.80[ASW][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309283	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309340	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313631	1.00[CEU][hapmap]
rs12319600	1.00[CEU][hapmap]
rs12319661	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320498	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934037	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766764	0.90[EUR][1000 genomes]
rs7960832	0.81[EUR][1000 genomes]
rs7966961	1.00[CEU][hapmap]
rs7980369	1.00[CEU][hapmap]
rs9804966	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804995	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804996	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
4	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29370600-29376800	Weak transcription	NHDF-Ad	bronchial
6	chr12:29370800-29376800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:29373200-29377800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:29374200-29378400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:29374400-29377600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:29374400-29378600	Weak transcription	Fetal Intestine Large	intestine
11	chr12:29374400-29380200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:29375200-29376600	Weak transcription	Placenta	Placenta
14	chr12:29375200-29381000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:29375800-29377000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:29376000-29377000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:29376000-29377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:29376400-29376600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29376400-29377000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:29376400-29377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:29376400-29379000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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