Variant report

Variant	rs11707731
Chromosome Location	chr3:142287627-142287628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142284471..142287739-chr3:142296498..142299510,3	MCF-7	breast:
2	chr3:142280147..142283141-chr3:142285094..142287715,3	K562	blood:
3	chr3:142282794..142284400-chr3:142286449..142288968,2	K562	blood:
4	chr3:142221745..142223373-chr3:142285789..142288084,2	K562	blood:

Variant related genes	Relation type
ENSG00000175054	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11709900	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11716882	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13075800	0.83[EUR][1000 genomes]
rs13091637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16852464	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs16852543	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2354859	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs34660854	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35238606	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67594010	0.83[EUR][1000 genomes]
rs68065420	0.95[AMR][1000 genomes];1.00[EUR][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	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr3:142231600-142295800	Weak transcription	Small Intestine	intestine
2	chr3:142244400-142295600	Weak transcription	Fetal Heart	heart
3	chr3:142253800-142296400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:142263600-142288000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:142269200-142292600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:142272600-142296200	Weak transcription	Brain Angular Gyrus	brain
7	chr3:142272600-142296200	Weak transcription	Psoas Muscle	Psoas
8	chr3:142272800-142293400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:142274800-142296200	Weak transcription	NHLF	lung
10	chr3:142274800-142296400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:142275000-142293600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:142275600-142296400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:142276000-142291200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:142276200-142288200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:142276800-142296600	Weak transcription	Ovary	ovary
16	chr3:142277400-142296600	Weak transcription	Esophagus	oesophagus
17	chr3:142278400-142295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:142278400-142296200	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:142279200-142296400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:142279800-142295600	Weak transcription	Thymus	Thymus
21	chr3:142280200-142296200	Weak transcription	Fetal Lung	lung
22	chr3:142282000-142293600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:142282200-142296200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:142282400-142292000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:142282600-142296200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:142282800-142296400	Weak transcription	Fetal Kidney	kidney
27	chr3:142283800-142291400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:142283800-142296400	Weak transcription	Colonic Mucosa	Colon
29	chr3:142284000-142288000	Weak transcription	Aorta	Aorta
30	chr3:142284000-142294400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:142284000-142295800	Weak transcription	HUVEC	blood vessel
32	chr3:142284000-142296000	Weak transcription	Adipose Nuclei	Adipose
33	chr3:142284200-142293600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:142284200-142296400	Weak transcription	Left Ventricle	heart
35	chr3:142284400-142290200	Weak transcription	HSMMtube	muscle
36	chr3:142284600-142293600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:142285000-142291800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:142285000-142292400	Weak transcription	GM12878-XiMat	blood
39	chr3:142285000-142294400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:142285000-142294400	Weak transcription	Osteobl	bone
41	chr3:142285200-142289600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:142285200-142291800	Weak transcription	A549	lung
43	chr3:142285200-142293600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:142285200-142294000	Weak transcription	Brain Anterior Caudate	brain
45	chr3:142285200-142294200	Weak transcription	Fetal Thymus	thymus
46	chr3:142285200-142294400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:142285200-142294400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:142285200-142294400	Weak transcription	NH-A	brain
49	chr3:142285200-142294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:142285200-142295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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