Variant report

Variant	rs2870935
Chromosome Location	chr12:67830495-67830496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67828571..67831280-chr12:67896110..67898028,2	MCF-7	breast:
2	chr12:67822398..67825852-chr12:67826641..67830656,5	MCF-7	breast:
3	chr12:67663101..67664698-chr12:67829162..67831006,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111530	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17103860	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103862	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120722	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73326489	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67817800-67830600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:67818600-67832000	Enhancers	Fetal Intestine Large	intestine
3	chr12:67819600-67831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:67821400-67830600	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr12:67825400-67835200	Weak transcription	Ovary	ovary
6	chr12:67825600-67835400	Weak transcription	Fetal Kidney	kidney
7	chr12:67826400-67831200	Enhancers	NHLF	lung
8	chr12:67826600-67835200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:67827200-67830600	Enhancers	Fetal Intestine Small	intestine
10	chr12:67827200-67830800	Enhancers	NH-A	brain
11	chr12:67827200-67831000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:67827200-67831000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr12:67827200-67831200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:67827400-67831200	Enhancers	HSMM	muscle
15	chr12:67827400-67831400	Enhancers	HSMMtube	muscle
16	chr12:67827600-67830600	Enhancers	Small Intestine	intestine
17	chr12:67827600-67831200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:67827600-67831200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:67827800-67830800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:67827800-67835400	Weak transcription	NHEK	skin
21	chr12:67828000-67831000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:67829000-67831200	Enhancers	Osteobl	bone
23	chr12:67829000-67835400	Weak transcription	Liver	Liver
24	chr12:67829200-67831400	Weak transcription	Right Atrium	heart
25	chr12:67829200-67835200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:67829200-67835400	Weak transcription	Fetal Lung	lung
27	chr12:67829400-67831200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:67829400-67835400	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:67829600-67830600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:67830000-67831800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:67830000-67835200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:67830000-67835600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:67830000-67835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:67830000-67836000	Weak transcription	Psoas Muscle	Psoas
35	chr12:67830200-67835200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:67830200-67835200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:67830200-67835200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:67830400-67830800	Weak transcription	Stomach Mucosa	stomach
39	chr12:67830400-67831400	Enhancers	Primary hematopoietic stem cells	blood
40	chr12:67830400-67831600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:67830400-67831800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:67830400-67831800	Enhancers	Fetal Heart	heart
43	chr12:67830400-67835200	Weak transcription	NHDF-Ad	bronchial

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