Variant report

Variant	rs2811908
Chromosome Location	chr9:86247287-86247288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86247034..86248660-chr9:86250680..86252326,2	K562	blood:
2	chr9:86245520..86247823-chr9:86535695..86537836,2	MCF-7	breast:
3	chr9:86247178..86252278-chr9:86254565..86260519,7	MCF-7	breast:
4	chr9:86235832..86238192-chr9:86245437..86248685,3	K562	blood:

Variant related genes	Relation type
ENSG00000148057	Chromatin interaction
ENSG00000165115	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1044214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1052690	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11792478	1.00[CHB][hapmap]
rs2780970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2780971	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2780974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2780976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2780980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2781002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2781006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2781007	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2781008	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2811907	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811914	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811915	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2811917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811918	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811920	0.94[ASN][1000 genomes]
rs72746853	0.94[ASN][1000 genomes]
rs9410586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9410882	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv893512	chr9:86022215-86323309	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv516587	chr9:86226119-86255765	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv973848	chr9:86241130-86260149	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv968581	chr9:86246061-86249172	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2811908	FAM75D5	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86238600-86265000	Weak transcription	Ovary	ovary
2	chr9:86238800-86254600	Weak transcription	Left Ventricle	heart
3	chr9:86238800-86260600	Weak transcription	Right Ventricle	heart
4	chr9:86238800-86264600	Weak transcription	Psoas Muscle	Psoas
5	chr9:86239000-86250000	Weak transcription	HSMMtube	muscle
6	chr9:86239000-86264800	Weak transcription	HMEC	breast
7	chr9:86239000-86265200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:86239200-86261000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:86239400-86248000	Weak transcription	NHDF-Ad	bronchial
10	chr9:86239400-86254400	Weak transcription	Brain Anterior Caudate	brain
11	chr9:86239400-86254400	Weak transcription	Brain Substantia Nigra	brain
12	chr9:86239400-86266200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:86239400-86266400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:86239600-86260800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:86239600-86260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:86239600-86265000	Weak transcription	HUVEC	blood vessel
17	chr9:86239600-86266600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:86239600-86272200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:86239800-86266800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:86240200-86265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:86240400-86254600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:86242200-86256600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:86242400-86253800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:86242400-86257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:86242400-86264800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:86242600-86265000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:86243200-86260800	Weak transcription	Primary B cells from cord blood	blood
28	chr9:86243200-86261000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:86243200-86269600	Weak transcription	Pancreas	Pancrea
30	chr9:86243600-86264800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr9:86243600-86266200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr9:86244000-86260600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr9:86244000-86260800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr9:86244200-86264600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr9:86244400-86254200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:86244400-86262200	Weak transcription	A549	lung
37	chr9:86244400-86264600	Weak transcription	NHLF	lung
38	chr9:86244600-86257600	Weak transcription	Lung	lung
39	chr9:86244600-86257800	Weak transcription	Primary T cells from cord blood	blood
40	chr9:86244600-86258000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:86244600-86260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:86244600-86260200	Weak transcription	NHEK	skin
43	chr9:86244800-86254400	Weak transcription	HSMM	muscle
44	chr9:86244800-86258200	Weak transcription	GM12878-XiMat	blood
45	chr9:86244800-86260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:86244800-86260800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:86244800-86261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:86244800-86278800	Weak transcription	Spleen	Spleen
49	chr9:86244800-86285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr9:86245000-86248600	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links