Variant report

Variant	rs787206
Chromosome Location	chr3:120047380-120047381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120046370..120050212-chr3:120051068..120055542,4	K562	blood:
2	chr3:120040040..120041629-chr3:120046647..120048331,2	MCF-7	breast:
3	chr3:120045375..120049014-chr3:120049152..120052143,4	MCF-7	breast:
4	chr3:120044201..120047404-chr3:120067957..120069796,4	MCF-7	breast:
5	chr3:120042737..120044753-chr3:120045777..120047470,2	MCF-7	breast:
6	chr3:120045690..120047477-chr3:120049678..120052209,2	K562	blood:

Variant related genes	Relation type
ENSG00000163428	Chromatin interaction
ENSG00000240661	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10048964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1085614	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1085616	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1085617	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1147681	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147688	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147689	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147690	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147697	0.81[AMR][1000 genomes]
rs11914405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928731	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13318758	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13318838	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13327125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1625178	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1700	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs1716855	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716856	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733326	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1733328	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638597	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28600057	1.00[ASN][1000 genomes]
rs28826066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62266319	1.00[ASN][1000 genomes]
rs6764516	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767308	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777979	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799005	0.84[CEU][hapmap];0.86[AMR][1000 genomes]
rs6808913	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787186	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs787187	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs787189	0.89[EUR][1000 genomes]
rs787190	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs787192	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs787193	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs787196	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs787200	0.89[EUR][1000 genomes]
rs787205	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787207	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787208	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs809792	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs923729	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951658	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810151	0.81[AMR][1000 genomes]
rs9810784	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822759	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851711	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9856670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860676	0.84[CEU][hapmap];0.81[AMR][1000 genomes]
rs9876547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv829698	chr3:119960869-120129126	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120024400-120049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:120026600-120060800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:120026800-120049200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
5	chr3:120031000-120055600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:120032400-120047600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:120033200-120050000	Weak transcription	Spleen	Spleen
8	chr3:120033200-120060400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:120033200-120060400	Weak transcription	Pancreas	Pancrea
10	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:120034600-120052400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:120035200-120049800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:120036600-120053600	Weak transcription	Fetal Heart	heart
14	chr3:120037200-120052200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:120038200-120049200	Weak transcription	Fetal Kidney	kidney
16	chr3:120038600-120049200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:120038800-120049000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:120038800-120049800	Weak transcription	Fetal Brain Female	brain
19	chr3:120038800-120051600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:120039000-120048000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:120039200-120053600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:120039600-120049400	Weak transcription	NHLF	lung
23	chr3:120039800-120049400	Weak transcription	Fetal Intestine Large	intestine
24	chr3:120040000-120049000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:120040200-120048400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:120040200-120049000	Weak transcription	HUVEC	blood vessel
27	chr3:120040200-120049200	Weak transcription	Hela-S3	cervix
28	chr3:120040400-120049000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:120040400-120049800	Weak transcription	Brain Angular Gyrus	brain
30	chr3:120040400-120055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:120040400-120056400	Strong transcription	Dnd41	blood
32	chr3:120041000-120049000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:120041000-120049200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:120041000-120049600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:120041000-120056200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:120041000-120057400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:120041000-120057400	Weak transcription	Small Intestine	intestine
38	chr3:120041000-120058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:120041200-120048800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:120041200-120049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:120041200-120049200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:120041200-120049200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:120041200-120052400	Weak transcription	NHEK	skin
44	chr3:120041400-120049200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:120041400-120049600	Weak transcription	Brain Substantia Nigra	brain
46	chr3:120041600-120048400	Weak transcription	Placenta	Placenta
47	chr3:120041600-120049000	Weak transcription	Fetal Brain Male	brain
48	chr3:120041600-120051000	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:120041600-120055200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:120041800-120049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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