Variant report

Variant	rs878808
Chromosome Location	chr3:119053462-119053463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119041710..119043371-chr3:119051543..119054199,2	K562	blood:
2	chr3:119040478..119045025-chr3:119052618..119056629,7	MCF-7	breast:
3	chr3:119045537..119049626-chr3:119052248..119055183,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000031081	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10511388	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes]
rs16829700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16829712	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829724	0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs17203055	1.00[CHD][hapmap]
rs17281570	0.86[TSI][hapmap]
rs17281584	0.94[EUR][1000 genomes]
rs17281591	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4687849	1.00[CHB][hapmap]
rs4687850	1.00[CHB][hapmap]
rs4687999	1.00[CHB][hapmap]
rs4688000	1.00[CHB][hapmap]
rs7614346	1.00[CHD][hapmap]
rs880097	0.94[EUR][1000 genomes]
rs9289128	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935618	0.92[EUR][1000 genomes]
rs9832224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9835407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119042600-119054000	Weak transcription	NHLF	lung
2	chr3:119042600-119055600	Weak transcription	Fetal Brain Male	brain
3	chr3:119042800-119056000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:119042800-119070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:119042800-119072000	Weak transcription	Thymus	Thymus
6	chr3:119043000-119069000	Weak transcription	Primary T cells from cord blood	blood
7	chr3:119043200-119062400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:119046000-119056000	Weak transcription	Fetal Thymus	thymus
9	chr3:119046000-119064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:119046000-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:119046800-119056000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:119047000-119053800	Enhancers	Fetal Stomach	stomach
13	chr3:119047800-119053600	Enhancers	Ovary	ovary
14	chr3:119048000-119054600	Enhancers	Fetal Heart	heart
15	chr3:119048800-119062800	Weak transcription	Osteobl	bone
16	chr3:119049200-119062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:119049200-119071200	Weak transcription	Aorta	Aorta
18	chr3:119049400-119056000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:119049600-119068000	Weak transcription	NH-A	brain
20	chr3:119050000-119062000	Weak transcription	Placenta	Placenta
21	chr3:119050400-119053600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:119050400-119053800	Enhancers	Adipose Nuclei	Adipose
23	chr3:119050600-119053800	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:119050800-119056000	Weak transcription	HSMM	muscle
25	chr3:119050800-119064600	Weak transcription	HSMMtube	muscle
26	chr3:119050800-119075800	Weak transcription	Pancreas	Pancrea
27	chr3:119051000-119055400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:119051000-119064800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:119051400-119053600	Enhancers	Fetal Lung	lung
30	chr3:119051800-119053800	Enhancers	Right Atrium	heart
31	chr3:119051800-119054600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:119051800-119056000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:119051800-119056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:119052000-119054400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:119052000-119055200	Weak transcription	GM12878-XiMat	blood
36	chr3:119052000-119059400	Weak transcription	HUVEC	blood vessel
37	chr3:119052000-119062000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:119052000-119064600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:119052200-119053600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:119052600-119054400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr3:119052600-119054600	Enhancers	Left Ventricle	heart
42	chr3:119052600-119064200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:119052800-119053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:119052800-119053600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr3:119053000-119053600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:119053000-119054600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:119053200-119053600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:119053200-119053600	Genic enhancers	Fetal Muscle Leg	muscle
49	chr3:119053200-119054600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:119053200-119055600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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