Variant report

Variant	rs12756506
Chromosome Location	chr1:211808044-211808045
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211807063..211809288-chr1:211816053..211818328,2	K562	blood:
2	chr1:211805499..211810389-chr1:211816053..211819078,4	K562	blood:
3	chr1:211794683..211796296-chr1:211806280..211809015,2	MCF-7	breast:
4	chr1:211808019..211810498-chr1:211819976..211822363,2	K562	blood:
5	chr1:211788189..211791176-chr1:211807791..211810721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11590554	0.92[AFR][1000 genomes]
rs7529914	0.90[AFR][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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211804200-211813400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:211804200-211816600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:211804400-211809400	Enhancers	Hela-S3	cervix
4	chr1:211805400-211808200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:211805400-211808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:211805800-211808200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:211806800-211809200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:211806800-211809600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:211806800-211809600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:211806800-211811600	Weak transcription	Fetal Intestine Large	intestine
11	chr1:211806800-211813000	Weak transcription	Stomach Mucosa	stomach
12	chr1:211807000-211809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:211807000-211810600	Weak transcription	Placenta	Placenta
14	chr1:211807000-211811600	Weak transcription	Esophagus	oesophagus
15	chr1:211807000-211812000	Weak transcription	Adipose Nuclei	Adipose
16	chr1:211807000-211816200	Weak transcription	Colonic Mucosa	Colon
17	chr1:211807000-211816200	Weak transcription	Ovary	ovary
18	chr1:211807200-211809400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:211807200-211809400	Weak transcription	HSMM	muscle
20	chr1:211807200-211809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:211807200-211809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:211807200-211812000	Weak transcription	NHLF	lung
23	chr1:211807200-211816600	Weak transcription	Right Ventricle	heart
24	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:211807400-211808600	Weak transcription	Osteobl	bone
26	chr1:211807400-211809400	Weak transcription	A549	lung
27	chr1:211807400-211810000	Weak transcription	Spleen	Spleen
28	chr1:211807400-211812200	Weak transcription	NH-A	brain
29	chr1:211807400-211816800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:211807600-211808800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:211807600-211811600	Weak transcription	Liver	Liver
32	chr1:211807600-211812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:211807600-211812800	Weak transcription	Pancreas	Pancrea
34	chr1:211807600-211813000	Weak transcription	HSMMtube	muscle
35	chr1:211807600-211816600	Weak transcription	Left Ventricle	heart
36	chr1:211807800-211809600	Weak transcription	HMEC	breast
37	chr1:211808000-211809400	Weak transcription	HepG2	liver
38	chr1:211808000-211810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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