Variant report

Variant	rs4763287
Chromosome Location	chr12:12620172-12620173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12609394..12612369-chr12:12615599..12621309,5	MCF-7	breast:
2	chr12:12618969..12622557-chr12:12713241..12717041,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10845555	0.96[AMR][1000 genomes]
rs10845558	0.96[AMR][1000 genomes]
rs10845564	0.89[AMR][1000 genomes]
rs10845570	0.96[AMR][1000 genomes]
rs10845571	0.96[AMR][1000 genomes]
rs11054927	0.96[AMR][1000 genomes]
rs11054929	0.96[AMR][1000 genomes]
rs11054930	0.96[AMR][1000 genomes]
rs11054931	0.96[AMR][1000 genomes]
rs11054938	0.96[AMR][1000 genomes]
rs11054950	0.81[AMR][1000 genomes]
rs12309339	0.96[AMR][1000 genomes]
rs12314295	0.96[AMR][1000 genomes]
rs2417188	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2909054	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2970802	0.89[AMR][1000 genomes]
rs2970803	0.96[AMR][1000 genomes]
rs7314806	0.96[AMR][1000 genomes]
rs7961296	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7978266	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs888201	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][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	nsv898810	chr12:12600080-12627410	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12596000-12620200	Weak transcription	HSMM	muscle
2	chr12:12596000-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:12596200-12620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:12597400-12629000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:12601000-12620200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:12604000-12628600	Weak transcription	Fetal Lung	lung
8	chr12:12607800-12629400	Weak transcription	Fetal Kidney	kidney
9	chr12:12608400-12627200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:12608400-12629600	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:12609000-12623400	Weak transcription	A549	lung
12	chr12:12609200-12626800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:12609800-12628400	Weak transcription	NHLF	lung
14	chr12:12610200-12620200	Weak transcription	Osteobl	bone
15	chr12:12610800-12622000	Weak transcription	NHEK	skin
16	chr12:12610800-12623000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:12610800-12623200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
19	chr12:12611000-12621600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:12611000-12627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:12611000-12628600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:12611200-12620200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:12611200-12622000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:12611200-12627400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:12611200-12629000	Weak transcription	Hela-S3	cervix
26	chr12:12611400-12620200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:12611400-12620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:12611400-12620200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:12611400-12620200	Weak transcription	HSMMtube	muscle
30	chr12:12613200-12620800	Weak transcription	Brain Germinal Matrix	brain
31	chr12:12613400-12620200	Weak transcription	Brain Angular Gyrus	brain
32	chr12:12613400-12625200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:12613400-12627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:12613800-12620600	Enhancers	Fetal Thymus	thymus
35	chr12:12614400-12620200	Weak transcription	Small Intestine	intestine
36	chr12:12614600-12622800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:12614600-12627400	Weak transcription	Spleen	Spleen
38	chr12:12614800-12622400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:12615400-12620200	Weak transcription	Brain Substantia Nigra	brain
40	chr12:12615400-12626600	Weak transcription	GM12878-XiMat	blood
41	chr12:12616400-12622800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:12616400-12627400	Weak transcription	HepG2	liver
43	chr12:12616400-12629800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:12616600-12624600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:12616800-12621600	Strong transcription	Fetal Stomach	stomach
46	chr12:12617000-12628800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:12617400-12620400	Enhancers	Thymus	Thymus
48	chr12:12617400-12622400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr12:12617400-12623400	Strong transcription	Fetal Intestine Small	intestine
50	chr12:12617800-12620200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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