Variant report

Variant	rs12994142
Chromosome Location	chr2:46594302-46594303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46456888..46457471-chr2:46593569..46594397,2	MCF-7	breast:
2	chr2:46593206..46594772-chr2:46602945..46604592,2	K562	blood:
3	chr2:46593545..46595636-chr2:46687242..46688788,2	MCF-7	breast:
4	chr2:46538986..46541753-chr2:46593488..46595941,2	K562	blood:
5	chr2:46589429..46592507-chr2:46593401..46595603,3	K562	blood:
6	chr2:46582693..46584854-chr2:46594130..46596371,2	K562	blood:

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13011721	1.00[CEU][hapmap]

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	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46568000-46596600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:46573200-46613000	Strong transcription	Hela-S3	cervix
3	chr2:46574600-46607200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:46574800-46613000	Weak transcription	HSMM	muscle
5	chr2:46580000-46594600	Weak transcription	Psoas Muscle	Psoas
6	chr2:46580600-46597200	Weak transcription	Fetal Heart	heart
7	chr2:46581200-46597000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:46585200-46594600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:46586600-46604000	Weak transcription	HSMMtube	muscle
10	chr2:46588600-46604800	Weak transcription	Stomach Mucosa	stomach
11	chr2:46588800-46596800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:46588800-46597200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:46588800-46598800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:46589000-46594800	Genic enhancers	Liver	Liver
15	chr2:46589200-46596200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:46589200-46597000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:46589400-46594600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:46589400-46596200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:46589400-46596800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:46589600-46597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:46589800-46594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:46589800-46594600	Weak transcription	Spleen	Spleen
23	chr2:46589800-46594800	Weak transcription	Colonic Mucosa	Colon
24	chr2:46589800-46597000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:46589800-46616600	Weak transcription	Thymus	Thymus
26	chr2:46590000-46594400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:46590000-46594800	Weak transcription	Right Ventricle	heart
28	chr2:46590000-46595400	Weak transcription	Fetal Thymus	thymus
29	chr2:46590200-46596400	Weak transcription	Esophagus	oesophagus
30	chr2:46590400-46594400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:46590400-46596400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:46590600-46594400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:46591000-46594600	Weak transcription	Aorta	Aorta
34	chr2:46591000-46594600	Weak transcription	Lung	lung
35	chr2:46591000-46594600	Weak transcription	Pancreas	Pancrea
36	chr2:46591000-46596200	Weak transcription	Ovary	ovary
37	chr2:46591000-46596400	Weak transcription	Gastric	stomach
38	chr2:46591000-46596800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:46591200-46595200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:46591200-46595400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:46591200-46596200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:46591200-46606400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:46591400-46594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:46591400-46596600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:46591800-46599800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:46592000-46595400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:46592000-46605000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:46592200-46595800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:46592200-46597000	Weak transcription	NHDF-Ad	bronchial
50	chr2:46592200-46619800	Weak transcription	K562	blood

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