Variant report

Variant	rs2943757
Chromosome Location	chr3:120052276-120052277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120047936..120052812-chr3:120065943..120070052,5	K562	blood:
2	chr3:120046370..120050212-chr3:120051068..120055542,4	K562	blood:
3	chr3:120003211..120005326-chr3:120052246..120054856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163428	Chromatin interaction
ENSG00000175697	Chromatin interaction
ENSG00000240661	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009248	0.89[ASN][1000 genomes]
rs10511400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1085615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1147700	0.83[YRI][hapmap]
rs11554681	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs11708686	0.83[YRI][hapmap]
rs12495760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13075278	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs13100050	0.89[YRI][hapmap]
rs13314898	0.85[EUR][1000 genomes]
rs1515575	0.93[YRI][hapmap]
rs16831033	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16831036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2176093	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2319674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2971211	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs34104182	0.94[ASN][1000 genomes]
rs3914498	0.90[YRI][hapmap]
rs58556686	0.86[ASN][1000 genomes]
rs6438577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6770482	0.88[ASN][1000 genomes]
rs6782419	0.98[ASN][1000 genomes]
rs6791815	0.93[ASN][1000 genomes]
rs6803206	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6803428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6806659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs701988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72956871	0.81[ASN][1000 genomes]
rs73855212	0.81[ASN][1000 genomes]
rs7632516	0.86[ASN][1000 genomes]
rs787188	0.82[EUR][1000 genomes]
rs787191	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs787195	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787198	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs787209	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9817398	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9822269	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9822672	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9874631	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120026600-120060800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:120026800-120067200	Weak transcription	Aorta	Aorta
3	chr3:120031000-120055600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:120033200-120060400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:120033200-120060400	Weak transcription	Pancreas	Pancrea
6	chr3:120033200-120067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:120034600-120052400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:120036600-120053600	Weak transcription	Fetal Heart	heart
9	chr3:120039200-120053600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:120040400-120055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:120040400-120056400	Strong transcription	Dnd41	blood
12	chr3:120041000-120056200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:120041000-120057400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:120041000-120057400	Weak transcription	Small Intestine	intestine
15	chr3:120041000-120058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:120041200-120052400	Weak transcription	NHEK	skin
17	chr3:120041600-120055200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:120042800-120060400	Weak transcription	Gastric	stomach
19	chr3:120042800-120060600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:120043000-120054000	Weak transcription	Fetal Intestine Small	intestine
21	chr3:120043200-120060400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:120044000-120054400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:120044400-120066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:120044600-120055400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:120045200-120054200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:120045200-120066800	Weak transcription	Stomach Mucosa	stomach
27	chr3:120045600-120054200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:120045600-120054600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:120045600-120066800	Weak transcription	Colonic Mucosa	Colon
30	chr3:120045800-120052400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:120045800-120054400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:120045800-120054800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:120045800-120055000	Strong transcription	Primary B cells from cord blood	blood
34	chr3:120045800-120055000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr3:120046400-120054000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:120046600-120054000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:120046600-120054000	Strong transcription	Adipose Nuclei	Adipose
38	chr3:120046600-120054000	Strong transcription	Fetal Muscle Trunk	muscle
39	chr3:120046600-120054200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:120046600-120054200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr3:120046600-120054200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:120046600-120055400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:120046800-120054800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr3:120046800-120054800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:120047000-120054200	Strong transcription	NHDF-Ad	bronchial
46	chr3:120047000-120054400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:120047200-120054000	Strong transcription	Osteobl	bone
48	chr3:120047600-120053200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:120047600-120054200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:120047800-120054000	Strong transcription	Fetal Lung	lung

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