Variant report

Variant	rs61143607
Chromosome Location	chr12:68061536-68061537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:68042238..68044710-chr12:68061095..68064050,2	MCF-7	breast:
2	chr12:68061261..68063814-chr12:68112175..68114401,2	K562	blood:
3	chr12:68053809..68056072-chr12:68060774..68062307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1420348	1.00[EUR][1000 genomes]
rs17104263	1.00[EUR][1000 genomes]
rs1812057	1.00[EUR][1000 genomes]
rs2700086	1.00[EUR][1000 genomes]
rs58169429	1.00[AMR][1000 genomes]
rs60465299	1.00[AMR][1000 genomes]
rs73316764	1.00[EUR][1000 genomes]
rs74099768	1.00[EUR][1000 genomes]
rs74099769	1.00[EUR][1000 genomes]
rs74099770	1.00[EUR][1000 genomes]
rs74099772	1.00[EUR][1000 genomes]
rs74099786	1.00[EUR][1000 genomes]
rs74099789	1.00[EUR][1000 genomes]
rs74099791	1.00[EUR][1000 genomes]
rs7964985	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430007	chr12:67947726-68241938	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68052400-68067400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:68052600-68072400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:68052800-68062200	Enhancers	Colon Smooth Muscle	Colon
4	chr12:68053000-68063000	Weak transcription	Pancreas	Pancrea
5	chr12:68053000-68063400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:68053000-68065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:68053000-68067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:68053000-68067000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:68053000-68067000	Weak transcription	Fetal Stomach	stomach
10	chr12:68053200-68063600	Weak transcription	HUVEC	blood vessel
11	chr12:68053400-68063800	Weak transcription	Thymus	Thymus
12	chr12:68053400-68064600	Weak transcription	Colonic Mucosa	Colon
13	chr12:68053400-68067000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:68053600-68067000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:68053800-68063400	Weak transcription	GM12878-XiMat	blood
16	chr12:68055000-68067200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:68055400-68062000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:68055400-68063000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:68055400-68063000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:68055400-68063200	Weak transcription	NHEK	skin
21	chr12:68055400-68063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:68055400-68063400	Weak transcription	Hela-S3	cervix
23	chr12:68055400-68063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:68055400-68067200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:68055600-68063600	Weak transcription	Fetal Brain Female	brain
26	chr12:68055600-68064200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:68055600-68065600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:68056600-68063200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:68057400-68062600	Weak transcription	NH-A	brain
30	chr12:68057600-68063000	Weak transcription	Primary B cells from cord blood	blood
31	chr12:68058000-68062000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:68058400-68063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:68058400-68063600	Weak transcription	Dnd41	blood
34	chr12:68058400-68067400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:68058400-68072200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:68058400-68072400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:68058600-68066000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:68058600-68066000	Weak transcription	Fetal Thymus	thymus
39	chr12:68058800-68077000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:68059200-68061600	Enhancers	NHDF-Ad	bronchial
41	chr12:68059200-68061800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:68059400-68061800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:68059400-68061800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:68059400-68062200	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:68059600-68061800	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr12:68059600-68061800	Enhancers	Brain Hippocampus Middle	brain
47	chr12:68059600-68061800	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:68059600-68061800	Enhancers	HSMMtube	muscle
49	chr12:68059600-68061800	Enhancers	NHLF	lung
50	chr12:68059800-68061800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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