Variant report

Variant	rs10873700
Chromosome Location	chr1:85842824-85842825
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	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11161595	0.91[EUR][1000 genomes]
rs11161613	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11590830	0.91[EUR][1000 genomes]
rs12116463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12122154	0.88[EUR][1000 genomes]
rs12123722	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12126355	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12131258	0.91[ASN][1000 genomes]
rs12136295	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12143626	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17127201	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17127231	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17127399	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17127565	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235990	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284798	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28816748	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56888838	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57996130	0.90[ASN][1000 genomes]
rs593728	0.91[ASN][1000 genomes]
rs7553530	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
4	chr1:85839000-85843600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:85839400-85846400	Weak transcription	Small Intestine	intestine
6	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
7	chr1:85840000-85844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:85840000-85844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:85840000-85844800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:85840000-85844800	Weak transcription	Ovary	ovary
11	chr1:85840000-85845200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:85840200-85844400	Weak transcription	HSMMtube	muscle
13	chr1:85840200-85844800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:85840200-85844800	Weak transcription	Fetal Stomach	stomach
15	chr1:85840200-85845200	Weak transcription	HepG2	liver
16	chr1:85840200-85845400	Weak transcription	NHLF	lung
17	chr1:85840200-85845600	Weak transcription	Psoas Muscle	Psoas
18	chr1:85840400-85845200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:85840400-85845200	Weak transcription	HSMM	muscle
20	chr1:85840400-85845400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:85840400-85848000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
23	chr1:85841200-85859800	Weak transcription	NH-A	brain
24	chr1:85841600-85844800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:85841800-85844800	Weak transcription	Brain Anterior Caudate	brain
26	chr1:85841800-85845000	Weak transcription	Fetal Intestine Small	intestine
27	chr1:85841800-85848000	Weak transcription	NHDF-Ad	bronchial
28	chr1:85842000-85844800	Weak transcription	Liver	Liver
29	chr1:85842000-85845200	Weak transcription	Fetal Lung	lung
30	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85842400-85845000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:85842400-85845400	Weak transcription	Fetal Kidney	kidney
33	chr1:85842400-85847200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:85842600-85843600	Enhancers	Fetal Brain Male	brain
35	chr1:85842600-85844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:85842600-85846000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:85842600-85847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:85842800-85843200	Enhancers	Osteobl	bone
39	chr1:85842800-85847200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:85842800-85847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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