Variant report

Variant	rs10987602
Chromosome Location	chr9:101515008-101515009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101507625..101509587-chr9:101513085..101515010,2	MCF-7	breast:
2	chr9:101513250..101515343-chr9:101518509..101520155,2	K562	blood:
3	chr9:101511261..101513563-chr9:101514524..101517291,2	K562	blood:
4	chr9:101510479..101512974-chr9:101514455..101517851,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10987748	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12686258	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2295924	0.89[JPT][hapmap]
rs7043234	0.89[JPT][hapmap]

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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active 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	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10987602	ZNF189	cis	cerebellum	SCAN
rs10987602	FANCC	cis	parietal	SCAN
rs10987602	INVS	cis	cerebellum	SCAN
rs10987602	FBP2	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101489800-101520800	Weak transcription	Fetal Brain Male	brain
2	chr9:101491000-101518000	Weak transcription	Thymus	Thymus
3	chr9:101494000-101532600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr9:101494000-101535200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr9:101494200-101516800	Weak transcription	Psoas Muscle	Psoas
6	chr9:101494400-101553000	Weak transcription	Fetal Heart	heart
7	chr9:101494600-101520800	Weak transcription	Fetal Kidney	kidney
8	chr9:101496600-101549400	Weak transcription	Small Intestine	intestine
9	chr9:101497600-101518000	Weak transcription	Primary B cells from cord blood	blood
10	chr9:101498800-101517400	Weak transcription	Colonic Mucosa	Colon
11	chr9:101498800-101529200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:101499000-101516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:101499200-101529800	Weak transcription	Placenta	Placenta
14	chr9:101501800-101515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:101502000-101519000	Strong transcription	Fetal Intestine Small	intestine
16	chr9:101502200-101519600	Strong transcription	Fetal Stomach	stomach
17	chr9:101503000-101537400	Weak transcription	HUVEC	blood vessel
18	chr9:101504200-101520200	Strong transcription	Fetal Intestine Large	intestine
19	chr9:101504400-101520600	Strong transcription	Fetal Muscle Leg	muscle
20	chr9:101504400-101523400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:101505000-101515200	Weak transcription	Osteobl	bone
22	chr9:101505000-101515400	Strong transcription	Gastric	stomach
23	chr9:101505000-101516000	Weak transcription	NH-A	brain
24	chr9:101505000-101520400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr9:101505000-101520800	Weak transcription	HMEC	breast
26	chr9:101505200-101515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:101505800-101519000	Strong transcription	Adipose Nuclei	Adipose
28	chr9:101506200-101519000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:101506200-101519800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr9:101506200-101527000	Weak transcription	NHDF-Ad	bronchial
31	chr9:101506400-101519200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:101506600-101529200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:101506800-101519600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:101506800-101553400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr9:101507400-101533200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:101507600-101517200	Weak transcription	Brain Germinal Matrix	brain
37	chr9:101508000-101516000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:101508000-101517600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr9:101508000-101532800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr9:101508600-101557400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr9:101509400-101520000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr9:101510000-101534600	Weak transcription	NHLF	lung
43	chr9:101510200-101519000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:101510200-101519800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:101510200-101523000	Strong transcription	Primary T cells from cord blood	blood
46	chr9:101510400-101516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:101510400-101520400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:101510800-101518200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:101510800-101518600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:101510800-101520800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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