Variant report

Variant	rs7965635
Chromosome Location	chr12:44238903-44238904
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	chr12:44152569..44154941-chr12:44238287..44240177,2	K562	blood:
2	chr12:44229793..44232258-chr12:44238778..44241759,3	K562	blood:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10736017	0.80[EUR][1000 genomes]
rs10748373	0.88[ASN][1000 genomes]
rs11182326	0.82[GIH][hapmap]
rs12298970	0.88[ASN][1000 genomes]
rs12311962	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12314126	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs1675765	1.00[CHB][hapmap]
rs1675766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675771	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs1675774	0.83[ASN][1000 genomes]
rs1675776	0.81[ASN][1000 genomes]
rs1675778	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675782	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675783	0.88[ASN][1000 genomes]
rs1675784	0.88[ASN][1000 genomes]
rs1675786	0.88[ASN][1000 genomes]
rs1675788	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675791	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731422	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs1731427	0.89[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs1731429	0.85[EUR][1000 genomes]
rs1731438	0.88[ASN][1000 genomes]
rs1731439	1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[ASN][1000 genomes]
rs1731440	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731442	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447114	0.88[ASN][1000 genomes]
rs2447115	0.88[ASN][1000 genomes]
rs2447116	0.83[ASN][1000 genomes]
rs2614394	0.89[ASW][hapmap];1.00[CEU][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs2699992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951436	0.88[ASN][1000 genomes]
rs4238090	0.82[EUR][1000 genomes]
rs4238092	0.83[GIH][hapmap]
rs4354753	1.00[CEU][hapmap]
rs4768049	0.88[ASN][1000 genomes]
rs73098836	0.88[ASN][1000 genomes]
rs7953229	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957146	0.82[ASN][1000 genomes]
rs7958314	0.82[ASN][1000 genomes]
rs7966024	0.82[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230400-44243800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:44230400-44244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:44230400-44250800	Weak transcription	Gastric	stomach
4	chr12:44230600-44241200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:44230800-44241200	Weak transcription	Placenta	Placenta
6	chr12:44230800-44243800	Weak transcription	Ovary	ovary
7	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
8	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:44231000-44239200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:44231000-44240200	Weak transcription	Hela-S3	cervix
12	chr12:44231000-44240800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:44231000-44241200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:44231000-44242800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:44231000-44245800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:44231000-44245800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:44231000-44249800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
21	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:44231400-44245800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:44231400-44245800	Weak transcription	Liver	Liver
24	chr12:44231800-44241000	Weak transcription	Fetal Intestine Small	intestine
25	chr12:44232200-44239600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:44232200-44240200	Weak transcription	HMEC	breast
27	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
28	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
30	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
31	chr12:44235600-44241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:44235800-44240800	Weak transcription	HSMM	muscle
33	chr12:44235800-44241200	Weak transcription	NHDF-Ad	bronchial
34	chr12:44236000-44240800	Weak transcription	HSMMtube	muscle
35	chr12:44236000-44241000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:44236200-44241000	Weak transcription	Osteobl	bone
37	chr12:44236200-44241200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:44236400-44241200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:44237800-44241000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
41	chr12:44238000-44239200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:44238400-44239000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:44238400-44239000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:44238400-44239200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:44238600-44240400	Strong transcription	Fetal Intestine Large	intestine
46	chr12:44238600-44240400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr12:44238800-44246000	Weak transcription	Primary hematopoietic stem cells	blood

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