Variant report

Variant	rs12063917
Chromosome Location	chr1:185615132-185615133
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	chr1:185614497..185616879-chr1:185621123..185625170,3	MCF-7	breast:
2	chr1:185614797..185616968-chr1:185619492..185621659,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261729	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12074218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662552	1.00[AMR][1000 genomes]
rs6687115	1.00[AMR][1000 genomes]
rs6687211	1.00[AMR][1000 genomes]
rs6689777	1.00[AMR][1000 genomes]
rs6689817	1.00[AMR][1000 genomes]
rs6699893	1.00[AMR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185607600-185618000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:185613200-185615600	Enhancers	HMEC	breast
3	chr1:185613200-185616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:185613400-185615600	Enhancers	Hela-S3	cervix
5	chr1:185613600-185615600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:185613600-185617400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:185613800-185615200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:185613800-185615600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:185613800-185615600	Enhancers	Osteobl	bone
10	chr1:185614000-185615200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:185614000-185615200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:185614000-185615600	Enhancers	NHEK	skin
13	chr1:185614000-185615800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:185614000-185617200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:185614000-185617400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:185614200-185615400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:185614200-185615400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:185614200-185615400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:185614200-185615400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:185614200-185615400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:185614200-185615400	Enhancers	HUVEC	blood vessel
22	chr1:185614200-185615400	Enhancers	NH-A	brain
23	chr1:185614200-185615400	Enhancers	NHDF-Ad	bronchial
24	chr1:185614200-185615600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:185614200-185615800	Enhancers	Fetal Heart	heart
26	chr1:185614200-185616000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:185614200-185616000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:185614400-185615200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:185614400-185615400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:185614400-185615400	Enhancers	Brain Germinal Matrix	brain
31	chr1:185614400-185615600	Enhancers	Brain Substantia Nigra	brain
32	chr1:185614400-185615600	Enhancers	Fetal Intestine Large	intestine
33	chr1:185614400-185615800	Enhancers	Fetal Brain Male	brain
34	chr1:185614400-185616000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:185614400-185616200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:185614400-185617200	Enhancers	Primary T cells from cord blood	blood
37	chr1:185614400-185617200	Enhancers	HepG2	liver
38	chr1:185614400-185617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:185614400-185617400	Enhancers	Fetal Kidney	kidney
40	chr1:185614600-185615200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:185614600-185615400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:185614600-185615400	Enhancers	Fetal Lung	lung
43	chr1:185614600-185615400	Enhancers	Left Ventricle	heart
44	chr1:185614600-185615600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:185614600-185615600	Enhancers	Right Atrium	heart
46	chr1:185614600-185615800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:185614600-185616400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:185614600-185617600	Enhancers	Fetal Intestine Small	intestine
49	chr1:185614800-185615200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:185614800-185615400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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