Variant report

Variant	rs4147690
Chromosome Location	chr12:4790591-4790592
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	chr12:4781056..4782780-chr12:4789868..4791397,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1009634	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10128935	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1024656	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10492056	0.83[AFR][1000 genomes]
rs10735037	1.00[ASN][1000 genomes]
rs10735038	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849118	0.97[ASN][1000 genomes]
rs1548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17176851	0.83[AFR][1000 genomes]
rs2058209	0.80[EUR][1000 genomes]
rs4147694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766271	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310700	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311644	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313982	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977127	1.00[ASN][1000 genomes]
rs7978162	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers 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	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4773800-4794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:4778800-4794400	Weak transcription	Small Intestine	intestine
4	chr12:4778800-4796000	Weak transcription	NHEK	skin
5	chr12:4779000-4792600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:4779000-4799000	Weak transcription	Stomach Mucosa	stomach
7	chr12:4779400-4791400	Weak transcription	Hela-S3	cervix
8	chr12:4779600-4801800	Weak transcription	K562	blood
9	chr12:4779800-4791400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:4780200-4792000	Weak transcription	NHLF	lung
11	chr12:4780200-4792600	Weak transcription	Fetal Brain Male	brain
12	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
13	chr12:4780400-4791000	Weak transcription	HMEC	breast
14	chr12:4780400-4791400	Weak transcription	HSMMtube	muscle
15	chr12:4780400-4792600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:4780600-4791400	Weak transcription	Primary B cells from cord blood	blood
17	chr12:4780600-4799000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:4781200-4791000	Weak transcription	GM12878-XiMat	blood
19	chr12:4781200-4791400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:4781200-4791400	Weak transcription	Brain Angular Gyrus	brain
21	chr12:4781200-4791400	Weak transcription	HSMM	muscle
22	chr12:4781200-4791400	Weak transcription	Osteobl	bone
23	chr12:4781200-4792400	Weak transcription	A549	lung
24	chr12:4781200-4794800	Weak transcription	NH-A	brain
25	chr12:4781400-4791000	Weak transcription	NHDF-Ad	bronchial
26	chr12:4781400-4791600	Weak transcription	Brain Substantia Nigra	brain
27	chr12:4781400-4794600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:4781600-4791000	Weak transcription	HUVEC	blood vessel
29	chr12:4781600-4791400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:4781800-4791200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:4781800-4791400	Weak transcription	Fetal Thymus	thymus
32	chr12:4782000-4791000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:4782000-4791400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:4782000-4791600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:4782000-4796800	Weak transcription	Fetal Kidney	kidney
36	chr12:4782200-4791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:4782200-4791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:4782200-4791200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:4782200-4791200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr12:4782200-4791200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:4782200-4791200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:4782200-4791400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:4782200-4791400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:4782200-4791400	Weak transcription	Aorta	Aorta
45	chr12:4782200-4791400	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:4782200-4791400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:4782200-4791400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:4782200-4791400	Weak transcription	Esophagus	oesophagus
49	chr12:4782200-4791400	Weak transcription	Gastric	stomach
50	chr12:4782200-4791400	Weak transcription	Ovary	ovary

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