Variant report

Variant	rs4311856
Chromosome Location	chr1:214729875-214729876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:214729851-214729981	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214728213..214729899-chr1:214734950..214736778,2	MCF-7	breast:
2	chr1:214722796..214725948-chr1:214727501..214730232,3	MCF-7	breast:

Variant related genes	Relation type
PTPN14	TF binding region
ENSG00000152104	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12121403	0.90[MEX][hapmap]
rs12142746	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3748697	0.90[MEX][hapmap]
rs3806315	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660643	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214726200-214730800	Weak transcription	HSMM	muscle
2	chr1:214726200-214731000	Weak transcription	NHEK	skin
3	chr1:214726200-214731200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:214726400-214730800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:214726400-214731200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:214726400-214731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:214726400-214731200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:214726400-214731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:214726800-214731000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:214726800-214731000	Weak transcription	NHLF	lung
11	chr1:214726800-214731200	Weak transcription	NHDF-Ad	bronchial
12	chr1:214727000-214731200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:214727000-214731200	Weak transcription	Hela-S3	cervix
14	chr1:214727000-214731200	Weak transcription	HMEC	breast
15	chr1:214727200-214730200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:214727200-214730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:214727200-214731000	Weak transcription	A549	lung
18	chr1:214727200-214731000	Weak transcription	NH-A	brain
19	chr1:214727200-214731000	Weak transcription	Osteobl	bone
20	chr1:214727200-214731200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:214727200-214731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:214727200-214731400	Weak transcription	HUVEC	blood vessel
23	chr1:214727200-214732400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:214727200-214732600	Weak transcription	Fetal Kidney	kidney
25	chr1:214727400-214731200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:214727400-214731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:214727400-214731200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:214727400-214731200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:214727600-214731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:214727600-214731400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:214727800-214730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:214729000-214730400	Enhancers	HepG2	liver
33	chr1:214729400-214730400	Enhancers	Fetal Intestine Small	intestine
34	chr1:214729600-214730200	Enhancers	Fetal Intestine Large	intestine
35	chr1:214729800-214730000	Enhancers	Aorta	Aorta
36	chr1:214729800-214731400	Weak transcription	GM12878-XiMat	blood

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