Variant report

Variant	rs10512248
Chromosome Location	chr9:98259703-98259704
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98187019..98190552-chr9:98258756..98262395,5	MCF-7	breast:
2	chr9:98243031..98244911-chr9:98259333..98262016,2	K562	blood:
3	chr9:98258805..98260606-chr9:98267349..98269372,2	MCF-7	breast:
4	chr9:98248561..98250430-chr9:98258742..98261519,2	MCF-7	breast:
5	chr9:98079431..98081822-chr9:98257356..98260228,2	K562	blood:

Variant related genes	Relation type
ENSG00000158169	Chromatin interaction
ENSG00000237857	Chromatin interaction
ENSG00000185920	Chromatin interaction
ENSG00000271155	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1355619	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1355620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16909919	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2066829	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236407	0.83[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282042	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2297086	0.83[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2297088	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28457763	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28495472	0.83[ASN][1000 genomes]
rs28496034	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28504650	0.91[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28536201	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28557305	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28591501	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28620668	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28629854	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28701981	0.85[JPT][hapmap];0.85[MEX][hapmap]
rs3758302	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4448343	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv430083	chr9:98204245-98445645	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1051665	chr9:98234404-98264577	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv824994	chr9:98239963-98314431	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv824995	chr9:98243455-98326547	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv824996	chr9:98245375-98283861	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Height	25429064	GWAS catalog
Height	18391952	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10512248	ZNF367	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98223400-98266400	Weak transcription	Hela-S3	cervix
2	chr9:98232200-98261200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:98239800-98260000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:98240200-98267400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:98240800-98259800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:98242400-98266400	Weak transcription	HSMMtube	muscle
7	chr9:98242800-98266600	Weak transcription	Adipose Nuclei	Adipose
8	chr9:98243000-98267800	Weak transcription	Aorta	Aorta
9	chr9:98243800-98260000	Weak transcription	HSMM	muscle
10	chr9:98249200-98263600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:98250400-98262800	Weak transcription	Stomach Mucosa	stomach
12	chr9:98253400-98261000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:98253400-98262400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:98254000-98267400	Weak transcription	Small Intestine	intestine
15	chr9:98255600-98265000	Genic enhancers	Fetal Stomach	stomach
16	chr9:98255800-98260200	Enhancers	Fetal Brain Male	brain
17	chr9:98256600-98260400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:98256600-98261200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:98256600-98261800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:98256800-98260200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:98257000-98260400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:98257000-98261400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:98257000-98262200	Weak transcription	HepG2	liver
24	chr9:98257000-98262800	Enhancers	Brain Substantia Nigra	brain
25	chr9:98257000-98264200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:98257000-98264200	Weak transcription	Gastric	stomach
27	chr9:98257200-98260400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:98257400-98259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:98257400-98259800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:98257400-98259800	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:98257400-98259800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:98257400-98260200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr9:98257400-98260600	Weak transcription	Right Ventricle	heart
34	chr9:98257400-98261200	Weak transcription	Colonic Mucosa	Colon
35	chr9:98257400-98261200	Weak transcription	Fetal Intestine Large	intestine
36	chr9:98257400-98262200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:98257400-98264400	Genic enhancers	Fetal Lung	lung
38	chr9:98257400-98266600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:98257400-98267000	Enhancers	Brain Hippocampus Middle	brain
40	chr9:98257600-98260000	Weak transcription	Colon Smooth Muscle	Colon
41	chr9:98257600-98260000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:98257600-98260200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:98257600-98260400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr9:98257600-98260600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:98257600-98261000	Weak transcription	K562	blood
46	chr9:98257600-98262200	Weak transcription	Fetal Heart	heart
47	chr9:98257600-98262200	Weak transcription	Pancreas	Pancrea
48	chr9:98257800-98260400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr9:98257800-98260400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr9:98257800-98260600	Enhancers	Primary T helper cells fromperipheralblood	blood

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