Variant report

Variant	rs12634505
Chromosome Location	chr3:119083600-119083601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119043069..119045444-chr3:119081797..119084702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10934492	0.88[ASN][1000 genomes]
rs12163543	0.95[ASN][1000 genomes]
rs12163575	0.95[ASN][1000 genomes]
rs12630032	0.86[ASN][1000 genomes]
rs12636459	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56138714	0.88[ASN][1000 genomes]
rs61261775	1.00[EUR][1000 genomes];0.95[ASN][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119053200-119087200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119053400-119087000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:119069400-119111400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:119071600-119087000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:119072000-119085600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:119072000-119086800	Weak transcription	HSMMtube	muscle
7	chr3:119072000-119109200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:119072200-119086000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:119072200-119087000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:119072200-119099200	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:119072200-119100600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:119072200-119101400	Weak transcription	HSMM	muscle
14	chr3:119072200-119109600	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:119072200-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:119072600-119084200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:119072600-119085800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:119073000-119086800	Weak transcription	Primary T cells from cord blood	blood
19	chr3:119073000-119098000	Weak transcription	Thymus	Thymus
20	chr3:119073000-119101000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr3:119073200-119086000	Weak transcription	Fetal Thymus	thymus
22	chr3:119074400-119085000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:119076200-119084000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:119076400-119084000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:119076400-119084000	Weak transcription	Osteobl	bone
26	chr3:119076400-119084200	Weak transcription	NH-A	brain
27	chr3:119076400-119085800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:119076400-119087200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:119076400-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:119076400-119087800	Weak transcription	Spleen	Spleen
31	chr3:119076400-119098800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:119076400-119101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:119076400-119102000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:119076400-119109200	Weak transcription	Colonic Mucosa	Colon
35	chr3:119076400-119109200	Weak transcription	Esophagus	oesophagus
36	chr3:119076600-119084000	Weak transcription	HUVEC	blood vessel
37	chr3:119076600-119084200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:119076600-119087000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:119076600-119101400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:119076800-119084000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:119076800-119084200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:119076800-119087000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:119078600-119084200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:119078800-119111400	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:119079000-119084000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:119079000-119085200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:119079000-119085400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:119079000-119085400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr3:119079000-119102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:119079400-119084200	Weak transcription	Adipose Nuclei	Adipose

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