Variant report

Variant	rs6910790
Chromosome Location	chr6:146255330-146255331
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	chr6:146055779..146058114-chr6:146254447..146256195,2	K562	blood:

Variant related genes	Relation type
ENSG00000270638	Chromatin interaction
ENSG00000112425	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10223508	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10457792	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10457793	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10457794	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10457795	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1062067	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1062068	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10872582	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10872583	0.82[EUR][1000 genomes]
rs11155452	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1133832	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11755334	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11760	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12194437	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13198450	0.85[EUR][1000 genomes]
rs1331636	0.89[EUR][1000 genomes]
rs1331637	0.89[EUR][1000 genomes]
rs1331645	0.83[EUR][1000 genomes]
rs1412081	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1474871	0.81[EUR][1000 genomes]
rs1832362	0.88[ASN][1000 genomes]
rs1986729	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2073287	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2144477	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2144478	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2207785	0.89[EUR][1000 genomes]
rs2224120	0.89[EUR][1000 genomes]
rs2224121	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2243665	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2247206	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2247211	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2247317	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2247429	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2247666	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2249147	0.88[ASN][1000 genomes]
rs2249386	0.88[AFR][1000 genomes]
rs2250387	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253194	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253307	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253648	0.91[ASN][1000 genomes]
rs2253654	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2253764	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253768	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253880	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253886	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253887	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2254257	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2254283	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2254288	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256998	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265467	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2265468	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2265469	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2265471	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265472	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2265477	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265915	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2265916	0.88[ASN][1000 genomes]
rs2265917	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265918	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2265919	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2328712	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2474356	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2485632	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2492855	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2748482	0.89[EUR][1000 genomes]
rs2748483	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2748484	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2748485	0.88[EUR][1000 genomes]
rs2748486	0.82[EUR][1000 genomes]
rs2748487	0.81[EUR][1000 genomes]
rs2748499	0.90[EUR][1000 genomes]
rs2748500	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2748502	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2777474	0.84[ASN][1000 genomes]
rs2777476	0.89[EUR][1000 genomes]
rs2777477	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2777484	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814866	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2814867	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2814869	0.90[EUR][1000 genomes]
rs2814874	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2814875	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2814876	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2814877	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2814879	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814880	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2892453	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3923579	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3924498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3924499	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3924502	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4075694	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4075695	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075696	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4243478	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4280983	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4314514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4316025	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4360151	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4391282	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4435956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4566902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4896852	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56181683	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6570723	0.84[ASN][1000 genomes]
rs6570724	0.84[ASN][1000 genomes]
rs6570736	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6570738	0.80[ASN][1000 genomes]
rs6908063	0.81[EUR][1000 genomes]
rs6914813	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6917135	0.84[ASN][1000 genomes]
rs6917482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6922507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6923545	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6924159	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6926076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6926657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6930975	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6934467	0.80[EUR][1000 genomes]
rs6938972	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7739418	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7740785	0.86[ASN][1000 genomes]
rs7742333	0.84[ASN][1000 genomes]
rs7745696	0.85[ASN][1000 genomes]
rs7747576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7753092	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7753696	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7755440	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7762562	0.83[ASN][1000 genomes]
rs854145	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs864390	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs866473	0.85[EUR][1000 genomes]
rs9322043	0.86[EUR][1000 genomes]
rs9322046	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9322047	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9322048	0.81[EUR][1000 genomes]
rs932522	0.85[EUR][1000 genomes]
rs9373485	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9376968	0.88[ASN][1000 genomes]
rs9376970	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9376971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9376975	0.86[EUR][1000 genomes]
rs9386141	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9390365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9390377	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9399569	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399571	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9399573	0.80[EUR][1000 genomes]
rs9403750	0.86[ASN][1000 genomes]
rs9403755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9403756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9403757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9403764	0.85[EUR][1000 genomes]
rs9403765	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403767	0.81[EUR][1000 genomes]
rs9403768	0.80[EUR][1000 genomes]
rs9497424	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497425	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9497427	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9497431	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9497434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9497435	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs969694	0.82[EUR][1000 genomes]
rs9791313	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6910790	RP11-545I5.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146210400-146282000	Weak transcription	Spleen	Spleen
2	chr6:146219200-146276600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:146219800-146271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:146220000-146259400	Weak transcription	Esophagus	oesophagus
5	chr6:146220000-146276800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:146220000-146283200	Weak transcription	Small Intestine	intestine
7	chr6:146220200-146268400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:146224600-146257000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:146225200-146268600	Weak transcription	Stomach Mucosa	stomach
10	chr6:146226200-146284200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:146226400-146268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:146226800-146270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:146227200-146268800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:146230600-146270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:146231800-146256000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:146232000-146262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:146232000-146282800	Weak transcription	NHLF	lung
18	chr6:146232800-146255800	Weak transcription	Lung	lung
19	chr6:146233400-146256000	Weak transcription	Pancreas	Pancrea
20	chr6:146233400-146261800	Weak transcription	Aorta	Aorta
21	chr6:146233400-146268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:146235600-146283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:146235800-146259600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:146240800-146262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:146240800-146263400	Weak transcription	NHEK	skin
26	chr6:146240800-146264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:146241600-146271400	Weak transcription	HSMMtube	muscle
28	chr6:146244000-146262000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:146244200-146270400	Weak transcription	Colonic Mucosa	Colon
30	chr6:146244600-146262400	Weak transcription	Hela-S3	cervix
31	chr6:146245200-146259400	Weak transcription	NHDF-Ad	bronchial
32	chr6:146246200-146257400	Weak transcription	Fetal Brain Female	brain
33	chr6:146246200-146259400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:146247800-146259000	Weak transcription	Brain Angular Gyrus	brain
35	chr6:146248200-146258400	Weak transcription	Fetal Kidney	kidney
36	chr6:146248400-146259200	Weak transcription	Brain Anterior Caudate	brain
37	chr6:146250600-146256800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:146250800-146256800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:146250800-146257000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:146250800-146257200	Strong transcription	Adipose Nuclei	Adipose
41	chr6:146250800-146270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:146250800-146276400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:146251000-146256400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:146251000-146256600	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:146251000-146276000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:146251000-146276200	Strong transcription	Primary B cells from cord blood	blood
47	chr6:146251200-146256600	Strong transcription	HSMM	muscle
48	chr6:146251200-146268600	Strong transcription	Liver	Liver
49	chr6:146251200-146276000	Strong transcription	Fetal Thymus	thymus
50	chr6:146251600-146256600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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