Variant report

Variant	rs9462263
Chromosome Location	chr6:37099953-37099954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37097945..37100004-chr6:37103434..37105888,2	MCF-7	breast:
2	chr6:37097868..37100736-chr6:37102286..37104277,4	MCF-7	breast:
3	chr6:37098264..37100378-chr6:37100579..37103118,2	K562	blood:
4	chr6:37098535..37100636-chr6:37137799..37139745,2	K562	blood:
5	chr6:37082845..37084683-chr6:37099143..37101033,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10498737	0.90[EUR][1000 genomes]
rs10947658	0.90[EUR][1000 genomes]
rs10947659	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11961047	0.90[EUR][1000 genomes]
rs12196469	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12208423	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12208425	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12210148	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1224288	0.82[ASN][1000 genomes]
rs2395668	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6918039	0.82[ASN][1000 genomes]
rs72849090	0.90[EUR][1000 genomes]
rs7757939	0.88[ASN][1000 genomes]
rs9462264	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462265	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470488	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470489	0.85[ASN][1000 genomes]
rs9470491	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470505	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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 miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37092800-37102000	Weak transcription	Pancreas	Pancrea
2	chr6:37094400-37100000	Enhancers	Fetal Intestine Large	intestine
3	chr6:37094400-37100000	Enhancers	Fetal Intestine Small	intestine
4	chr6:37096800-37104800	Weak transcription	Right Ventricle	heart
5	chr6:37097600-37100200	Enhancers	K562	blood
6	chr6:37097600-37100600	Enhancers	Fetal Heart	heart
7	chr6:37097800-37100000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:37098000-37100000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:37098000-37100000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:37098000-37100600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:37098200-37100000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:37098200-37100000	Enhancers	HSMM	muscle
13	chr6:37098200-37100000	Enhancers	HUVEC	blood vessel
14	chr6:37098200-37100000	Enhancers	NH-A	brain
15	chr6:37098200-37100200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:37098200-37100200	Enhancers	Fetal Muscle Leg	muscle
17	chr6:37098400-37100000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:37098400-37100000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:37098400-37100000	Enhancers	HMEC	breast
20	chr6:37098400-37100000	Enhancers	HSMMtube	muscle
21	chr6:37098600-37100000	Genic enhancers	H1 Cell Line	embryonic stem cell
22	chr6:37098600-37100000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:37098600-37100400	Enhancers	Fetal Muscle Trunk	muscle
24	chr6:37098600-37104600	Weak transcription	GM12878-XiMat	blood
25	chr6:37098800-37100200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:37099000-37100000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:37099200-37100000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:37099200-37100000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:37099200-37100000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr6:37099200-37100000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr6:37099200-37100000	Flanking Active TSS	Hela-S3	cervix
32	chr6:37099200-37100000	Flanking Active TSS	HepG2	liver
33	chr6:37099400-37100000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:37099400-37101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:37099400-37101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:37099400-37101800	Weak transcription	Gastric	stomach
37	chr6:37099400-37102000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:37099600-37100000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:37099600-37100000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:37099600-37100000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:37099600-37100000	Enhancers	Stomach Mucosa	stomach
42	chr6:37099600-37101400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:37099600-37101400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:37099600-37101600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:37099600-37101600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:37099600-37101800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:37099600-37101800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:37099600-37101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:37099600-37101800	Weak transcription	Esophagus	oesophagus
50	chr6:37099600-37101800	Weak transcription	Fetal Brain Female	brain

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