Variant report

Variant	rs4763812
Chromosome Location	chr12:9861390-9861391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9786487..9787504-chr12:9860467..9861450,7	K562	blood:
2	chr12:9799365..9802259-chr12:9859677..9861748,3	MCF-7	breast:
3	chr12:9798330..9801052-chr12:9860989..9864813,3	K562	blood:
4	chr12:9800782..9802831-chr12:9859086..9861954,2	MCF-7	breast:
5	chr12:9853903..9855741-chr12:9860997..9863949,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10734807	1.00[EUR][1000 genomes]
rs10734809	1.00[EUR][1000 genomes]
rs2192440	0.90[EUR][1000 genomes]
rs2401389	0.90[EUR][1000 genomes]
rs4508286	1.00[EUR][1000 genomes]
rs4763738	1.00[EUR][1000 genomes]
rs7302498	1.00[EUR][1000 genomes]
rs7964290	1.00[EUR][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	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9840600-9864600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:9841800-9863200	Weak transcription	HSMMtube	muscle
3	chr12:9855600-9862800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:9857600-9861600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:9858600-9861400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:9858600-9861400	Enhancers	Dnd41	blood
8	chr12:9858800-9861400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:9859000-9870200	Enhancers	Primary B cells from cord blood	blood
10	chr12:9860000-9861400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:9860400-9861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:9860400-9861800	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:9860600-9861400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:9860600-9862000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:9860800-9861400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:9860800-9861600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:9860800-9863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:9860800-9863200	Weak transcription	Spleen	Spleen
19	chr12:9860800-9864400	Weak transcription	A549	lung
20	chr12:9861000-9861400	Enhancers	Primary T cells from cord blood	blood
21	chr12:9861000-9861400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:9861000-9861400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:9861000-9861400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:9861000-9861400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:9861000-9861400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:9861000-9861600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:9861000-9861800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:9861000-9862000	Enhancers	HUVEC	blood vessel
29	chr12:9861000-9862400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:9861000-9863000	Weak transcription	Placenta	Placenta
31	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
33	chr12:9861200-9861400	Bivalent Enhancer	HepG2	liver

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