Variant report

Variant	rs4435047
Chromosome Location	chr12:51705683-51705684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51702787..51706135-chr12:51715860..51718375,3	K562	blood:
2	chr12:51701016..51703258-chr12:51704233..51707521,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110934	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10876160	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876161	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169794	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12228390	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288368	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4761843	0.81[EUR][1000 genomes]
rs4761845	0.83[ASN][1000 genomes]
rs4762035	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4762040	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4762042	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5029067	0.81[EUR][1000 genomes]
rs6580824	0.82[EUR][1000 genomes]
rs7955476	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7955688	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7958762	0.87[ASN][1000 genomes]
rs7973807	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51681800-51714200	Weak transcription	Gastric	stomach
2	chr12:51687000-51707400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:51687800-51708000	Strong transcription	Thymus	Thymus
4	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
6	chr12:51699200-51709400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:51699800-51710000	Strong transcription	Fetal Thymus	thymus
8	chr12:51700600-51711000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:51701400-51706800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:51701400-51708600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:51701600-51706400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:51701600-51706600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:51701600-51708400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:51702200-51712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:51702400-51705800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:51702400-51705800	Weak transcription	Pancreas	Pancrea
17	chr12:51702400-51709600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:51702400-51712200	Weak transcription	GM12878-XiMat	blood
19	chr12:51702600-51709000	Weak transcription	K562	blood
20	chr12:51702800-51712200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:51703200-51707400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:51703200-51709800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:51703400-51711200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr12:51703400-51711200	Weak transcription	Placenta	Placenta
25	chr12:51704000-51712200	Weak transcription	Stomach Mucosa	stomach
26	chr12:51704200-51706000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:51704400-51712200	Weak transcription	A549	lung
28	chr12:51704600-51706000	Weak transcription	Primary B cells from cord blood	blood
29	chr12:51704600-51712600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:51704800-51706000	Strong transcription	Primary T cells from cord blood	blood
31	chr12:51704800-51706600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:51705000-51706400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:51705000-51707200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:51705400-51706400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:51705400-51707200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:51705600-51705800	Enhancers	NHEK	skin
37	chr12:51705600-51707800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr12:51705600-51708200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood

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