Variant report

Variant	rs6924159
Chromosome Location	chr6:146267873-146267874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146267312..146272406-chr6:146283200..146287015,6	K562	blood:
2	chr6:146262815..146265811-chr6:146266254..146267954,2	K562	blood:
3	chr6:146264461..146268598-chr6:146269402..146274122,4	K562	blood:

Variant related genes	Relation type
ENSG00000146414	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10223508	0.96[EUR][1000 genomes]
rs10457792	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10457793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10457794	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10457795	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1062067	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1062068	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10872582	0.85[EUR][1000 genomes]
rs10872583	0.83[EUR][1000 genomes]
rs11155452	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1133832	0.90[EUR][1000 genomes]
rs11755334	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11760	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12194437	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13198450	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13204280	0.80[EUR][1000 genomes]
rs1331636	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1331637	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1331639	0.80[EUR][1000 genomes]
rs1331645	0.83[EUR][1000 genomes]
rs1412081	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1474871	0.82[EUR][1000 genomes]
rs1986729	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2073287	0.86[EUR][1000 genomes]
rs2144477	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2144478	0.85[EUR][1000 genomes]
rs2207785	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2224120	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2224121	0.89[EUR][1000 genomes]
rs2243665	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2246334	0.82[ASN][1000 genomes]
rs2247206	0.91[EUR][1000 genomes]
rs2247211	0.91[EUR][1000 genomes]
rs2247317	0.82[EUR][1000 genomes]
rs2247429	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2247666	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2249386	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2250387	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2253194	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2253307	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2253654	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253768	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2253886	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2253887	0.82[AMR][1000 genomes]
rs2254257	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2254283	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2254288	0.90[EUR][1000 genomes]
rs2256998	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2265467	0.82[EUR][1000 genomes]
rs2265468	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2265469	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2265471	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2265472	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2265474	0.82[ASN][1000 genomes]
rs2265477	0.82[EUR][1000 genomes]
rs2265915	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2265917	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2265918	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2265919	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2328712	0.89[EUR][1000 genomes]
rs2474356	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2485632	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2492855	0.89[EUR][1000 genomes]
rs2748482	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2748483	0.89[EUR][1000 genomes]
rs2748484	0.89[EUR][1000 genomes]
rs2748485	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2748486	0.83[EUR][1000 genomes]
rs2748487	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2748499	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2748500	0.81[EUR][1000 genomes]
rs2748502	0.90[EUR][1000 genomes]
rs2777476	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2777477	0.90[EUR][1000 genomes]
rs2777484	0.88[EUR][1000 genomes]
rs2814866	0.89[EUR][1000 genomes]
rs2814867	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814869	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2814874	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814875	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814876	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814877	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2814880	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2892453	0.85[EUR][1000 genomes]
rs3923579	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3924498	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3924499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3924502	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4075694	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4075695	0.87[EUR][1000 genomes]
rs4075696	0.87[EUR][1000 genomes]
rs4243478	0.88[EUR][1000 genomes]
rs4280983	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4314514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4316025	0.85[EUR][1000 genomes]
rs4360151	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4391282	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4435956	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4566902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4896852	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56181683	0.91[EUR][1000 genomes]
rs62435810	0.80[ASN][1000 genomes]
rs6570736	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6570738	0.80[EUR][1000 genomes]
rs6908063	0.82[EUR][1000 genomes]
rs6910790	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6914813	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6917482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6922507	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6923545	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6926076	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6926657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6930975	0.85[EUR][1000 genomes]
rs6934467	0.81[EUR][1000 genomes]
rs6938972	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7739418	0.86[EUR][1000 genomes]
rs7747576	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7753092	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7753696	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7755440	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs854145	0.86[EUR][1000 genomes]
rs864390	0.90[EUR][1000 genomes]
rs866473	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9322043	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9322046	0.84[EUR][1000 genomes]
rs9322047	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9322048	0.82[EUR][1000 genomes]
rs932522	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9373485	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9376970	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9376971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9376975	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9386141	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9390365	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390377	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9399569	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9399571	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9399573	0.81[EUR][1000 genomes]
rs9403755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9403756	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9403764	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9403765	0.85[EUR][1000 genomes]
rs9403767	0.81[EUR][1000 genomes]
rs9403768	0.81[EUR][1000 genomes]
rs9497424	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9497425	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9497427	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9497431	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9497434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9497435	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs969694	0.83[EUR][1000 genomes]
rs9791313	0.85[AMR][1000 genomes];0.97[EUR][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
rs6924159	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	chr6:146220000-146276800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:146220000-146283200	Weak transcription	Small Intestine	intestine
6	chr6:146220200-146268400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:146225200-146268600	Weak transcription	Stomach Mucosa	stomach
8	chr6:146226200-146284200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:146226400-146268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:146226800-146270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:146227200-146268800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:146230600-146270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:146232000-146282800	Weak transcription	NHLF	lung
14	chr6:146233400-146268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:146235600-146283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:146241600-146271400	Weak transcription	HSMMtube	muscle
17	chr6:146244200-146270400	Weak transcription	Colonic Mucosa	Colon
18	chr6:146250800-146270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:146250800-146276400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr6:146251000-146276000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:146251000-146276200	Strong transcription	Primary B cells from cord blood	blood
22	chr6:146251200-146268600	Strong transcription	Liver	Liver
23	chr6:146251200-146276000	Strong transcription	Fetal Thymus	thymus
24	chr6:146251600-146270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:146251600-146276400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:146251600-146276600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:146251600-146276600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:146251800-146268400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:146252200-146273400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:146252200-146274600	Strong transcription	Placenta	Placenta
31	chr6:146253400-146276400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:146253600-146276000	Strong transcription	Fetal Lung	lung
33	chr6:146255000-146270400	Weak transcription	Fetal Brain Male	brain
34	chr6:146255800-146282000	Weak transcription	Right Ventricle	heart
35	chr6:146256600-146282000	Weak transcription	Lung	lung
36	chr6:146257400-146275800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:146257800-146270400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:146258000-146276600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr6:146258400-146276400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr6:146258400-146276600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:146258400-146276600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:146258600-146269200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:146258600-146270400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:146258600-146276200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:146258600-146276200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:146258600-146276400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:146258600-146276600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:146258600-146276600	Strong transcription	Dnd41	blood
49	chr6:146258800-146268800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:146258800-146269000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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