Variant report

Variant	rs2143441
Chromosome Location	chr1:210566962-210566963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210544698..210555948-chr1:210566953..210584306,65	MCF-7	breast:
2	chr1:210565121..210568359-chr1:210572172..210574144,3	K562	blood:
3	chr1:210545087..210549192-chr1:210563139..210569683,17	K562	blood:
4	chr1:210566042..210569012-chr1:210569613..210571239,2	MCF-7	breast:
5	chr1:210557280..210560870-chr1:210565323..210568970,3	MCF-7	breast:
6	chr1:210565840..210568269-chr1:210585284..210587364,2	K562	blood:
7	chr1:210544272..210548756-chr1:210564899..210569569,12	MCF-7	breast:
8	chr1:210566055..210568677-chr1:210572512..210575312,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1111020	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs11119482	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073039	0.96[EUR][1000 genomes]
rs2076516	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs3765863	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765867	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4336853	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4844525	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4844526	0.94[EUR][1000 genomes]
rs4844527	0.88[GIH][hapmap];0.82[TSI][hapmap]
rs4845010	0.89[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4845011	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6540592	0.91[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes]
rs6540593	0.91[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6663590	0.91[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6685791	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6693035	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6693338	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs717659	0.83[CHD][hapmap]

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210551400-210586000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:210559000-210584400	Weak transcription	Fetal Stomach	stomach
4	chr1:210563400-210569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:210565200-210569600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:210566000-210569000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:210566200-210568200	Enhancers	HSMMtube	muscle
8	chr1:210566200-210568800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:210566200-210569000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:210566200-210569000	Enhancers	Brain Angular Gyrus	brain
11	chr1:210566200-210569000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:210566200-210569400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:210566200-210569400	Enhancers	HMEC	breast
14	chr1:210566400-210567000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:210566400-210567400	Enhancers	Left Ventricle	heart
16	chr1:210566400-210568200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:210566400-210568200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:210566400-210568400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:210566400-210568800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:210566400-210568800	Enhancers	Osteobl	bone
21	chr1:210566400-210569000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:210566400-210569000	Enhancers	NHDF-Ad	bronchial
23	chr1:210566400-210569200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:210566400-210569200	Enhancers	HepG2	liver
25	chr1:210566600-210567000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr1:210566600-210567400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr1:210566600-210567600	Enhancers	Aorta	Aorta
28	chr1:210566600-210568000	Enhancers	NHEK	skin
29	chr1:210566600-210568200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:210566600-210568200	Enhancers	Fetal Muscle Leg	muscle
31	chr1:210566600-210568200	Enhancers	NHLF	lung
32	chr1:210566600-210568400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:210566600-210568800	Enhancers	NH-A	brain
34	chr1:210566800-210567000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:210566800-210567400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:210566800-210567400	Enhancers	HSMM	muscle
37	chr1:210566800-210567600	Weak transcription	Fetal Brain Female	brain
38	chr1:210566800-210567600	Enhancers	Fetal Heart	heart
39	chr1:210566800-210568000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:210566800-210568000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:210566800-210568000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:210566800-210568000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:210566800-210568200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:210566800-210568200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:210566800-210568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:210566800-210586200	Weak transcription	Lung	lung

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