Variant report

Variant	rs7310074
Chromosome Location	chr12:120509937-120509938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120502380..120507163-chr12:120508034..120511527,6	K562	blood:
2	chr12:120502350..120506477-chr12:120508342..120509946,3	K562	blood:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2239199	0.94[AFR][1000 genomes]
rs3759398	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7316521	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7956934	0.83[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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120486800-120512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:120487800-120512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:120493800-120523800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:120494800-120517800	Weak transcription	Lung	lung
5	chr12:120498400-120511600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:120498800-120516600	Weak transcription	Fetal Brain Male	brain
7	chr12:120499800-120511200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:120499800-120516400	Weak transcription	Primary B cells from cord blood	blood
9	chr12:120502000-120523400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:120502200-120516600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:120502200-120517800	Weak transcription	Gastric	stomach
12	chr12:120502400-120523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:120502400-120523400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:120502400-120524400	Weak transcription	Fetal Intestine Small	intestine
15	chr12:120502600-120518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:120502600-120524400	Weak transcription	Brain Anterior Caudate	brain
17	chr12:120502600-120525200	Weak transcription	Spleen	Spleen
18	chr12:120502800-120514200	Weak transcription	Hela-S3	cervix
19	chr12:120503000-120517000	Weak transcription	Dnd41	blood
20	chr12:120503600-120516000	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:120503800-120512000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:120503800-120518000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:120504200-120510200	Weak transcription	Brain Angular Gyrus	brain
24	chr12:120504600-120516800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:120504600-120516800	Weak transcription	HMEC	breast
26	chr12:120504800-120510200	Weak transcription	NHEK	skin
27	chr12:120505800-120516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:120506800-120512600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:120507200-120511600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr12:120507200-120512000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr12:120507400-120514600	Weak transcription	Stomach Mucosa	stomach
32	chr12:120507400-120516800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:120508400-120518200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:120508800-120511400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:120509000-120513400	Strong transcription	Thymus	Thymus
36	chr12:120509400-120510000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr12:120509400-120510000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:120509400-120510600	Strong transcription	Brain Germinal Matrix	brain
39	chr12:120509400-120510800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:120509400-120511200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:120509400-120511200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:120509400-120511800	Strong transcription	Primary T cells from cord blood	blood
43	chr12:120509400-120511800	Strong transcription	Fetal Thymus	thymus
44	chr12:120509400-120512400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:120509400-120512400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:120509600-120510000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr12:120509600-120510000	Enhancers	Esophagus	oesophagus
48	chr12:120509600-120510200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:120509600-120510400	Strong transcription	Fetal Brain Female	brain
50	chr12:120509600-120511000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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