Variant report

Variant	rs6783238
Chromosome Location	chr3:135712706-135712707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:135707339..135711075-chr3:135711449..135714009,4	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10512973	0.84[YRI][hapmap]
rs16843557	1.00[AMR][1000 genomes]
rs16843653	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6769336	0.85[AFR][1000 genomes]
rs6772597	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6773511	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6807844	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135694000-135713600	Weak transcription	Fetal Lung	lung
2	chr3:135694000-135726600	Weak transcription	Esophagus	oesophagus
3	chr3:135694200-135713400	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:135701600-135720600	Weak transcription	Ovary	ovary
5	chr3:135704600-135716400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:135707000-135736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:135707000-135741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:135708200-135716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:135708200-135730200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:135708600-135713600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:135709800-135717800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:135710000-135716800	Weak transcription	Psoas Muscle	Psoas
13	chr3:135710000-135726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:135710000-135727200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:135710000-135737600	Weak transcription	Left Ventricle	heart
16	chr3:135710600-135713000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:135710600-135715400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:135710800-135713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:135710800-135713400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:135710800-135713800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:135710800-135727600	Weak transcription	Aorta	Aorta
22	chr3:135711400-135713200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:135711600-135713200	Weak transcription	Fetal Heart	heart
24	chr3:135711600-135713200	Weak transcription	Stomach Mucosa	stomach
25	chr3:135711600-135713800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:135711600-135714800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:135711600-135717000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:135711600-135727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:135711600-135731000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:135711800-135713200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:135711800-135713200	Weak transcription	NHLF	lung
32	chr3:135711800-135713400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:135711800-135713400	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:135711800-135713600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:135711800-135713600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:135711800-135713600	Weak transcription	NH-A	brain
37	chr3:135711800-135714600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:135711800-135727000	Weak transcription	Pancreas	Pancrea
39	chr3:135711800-135727400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:135711800-135730400	Weak transcription	HSMM	muscle
41	chr3:135711800-135730400	Weak transcription	Osteobl	bone
42	chr3:135711800-135737600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:135712000-135713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:135712400-135713000	Weak transcription	NHEK	skin
45	chr3:135712400-135721800	Weak transcription	NHDF-Ad	bronchial

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