Variant report

Variant	rs28529751
Chromosome Location	chr1:85910951-85910952
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	chr1:85863358..85866240-chr1:85910699..85913658,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10782550	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161597	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161599	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11161616	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11161617	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11801146	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12049529	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12118950	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12120551	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12122816	0.90[ASN][1000 genomes]
rs12123745	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125900	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128907	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129502	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12130145	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12130591	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132677	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12133722	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12135333	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12138621	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138852	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12139958	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12140170	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12140272	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12140457	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12140935	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12717763	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12724823	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736004	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12743049	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758237	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758768	0.90[ASN][1000 genomes]
rs1498374	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1608536	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17384381	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17388521	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076699	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300639	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2300640	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34561661	0.90[ASN][1000 genomes]
rs35193119	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35240561	0.90[ASN][1000 genomes]
rs35761966	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36110608	0.95[ASN][1000 genomes]
rs3768223	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71652696	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
2	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:85899200-85914800	Weak transcription	Esophagus	oesophagus
4	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85902600-85912200	Weak transcription	Pancreas	Pancrea
6	chr1:85904400-85914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85905000-85912400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:85905200-85912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:85905200-85912600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:85905200-85912800	Weak transcription	Left Ventricle	heart
11	chr1:85905200-85913000	Weak transcription	Fetal Kidney	kidney
12	chr1:85905200-85914800	Weak transcription	Small Intestine	intestine
13	chr1:85905400-85913400	Weak transcription	Fetal Lung	lung
14	chr1:85906200-85912400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:85906800-85912800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:85906800-85913000	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:85906800-85914200	Weak transcription	Ovary	ovary
18	chr1:85907000-85913400	Weak transcription	HepG2	liver
19	chr1:85907000-85914200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:85907000-85914600	Weak transcription	Fetal Stomach	stomach
21	chr1:85907000-85914800	Weak transcription	Aorta	Aorta
22	chr1:85907000-85914800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:85907000-85919600	Weak transcription	Right Atrium	heart
24	chr1:85907200-85911400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:85907200-85912200	Weak transcription	Liver	Liver
26	chr1:85907200-85912200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:85907200-85912800	Weak transcription	Psoas Muscle	Psoas
28	chr1:85907400-85912200	Weak transcription	HUVEC	blood vessel
29	chr1:85907400-85912200	Weak transcription	NHLF	lung
30	chr1:85907600-85911200	Weak transcription	NHDF-Ad	bronchial
31	chr1:85909200-85916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:85910000-85911600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:85910200-85911000	Genic enhancers	HSMM	muscle
34	chr1:85910200-85911600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:85910200-85911800	Strong transcription	Fetal Intestine Large	intestine
36	chr1:85910200-85913200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:85910200-85913400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:85910400-85911200	Strong transcription	Osteobl	bone
39	chr1:85910400-85911400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:85910400-85912000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:85910400-85916000	Weak transcription	HMEC	breast
42	chr1:85910600-85912200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:85910600-85912800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:85910600-85912800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:85910600-85912800	Weak transcription	NH-A	brain
46	chr1:85910600-85914800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:85910800-85912400	Weak transcription	Brain Anterior Caudate	brain
48	chr1:85910800-85912800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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