Variant report

Variant	rs324691
Chromosome Location	chr4:76730373-76730374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76695835..76697622-chr4:76727743..76730489,2	K562	blood:
2	chr4:76729458..76731870-chr4:76734156..76736112,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10031352	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10031616	0.80[AFR][1000 genomes]
rs11097112	0.89[AFR][1000 genomes]
rs11097117	0.94[ASN][1000 genomes]
rs11097121	0.94[ASN][1000 genomes]
rs11097122	0.92[AFR][1000 genomes]
rs11727895	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728073	0.92[AFR][1000 genomes]
rs11732850	0.80[ASN][1000 genomes]
rs11734358	0.87[ASN][1000 genomes]
rs11935073	0.94[ASN][1000 genomes]
rs12233780	0.94[ASN][1000 genomes]
rs12505147	0.92[ASN][1000 genomes]
rs12505149	0.89[AFR][1000 genomes]
rs12506101	0.92[ASN][1000 genomes]
rs12508200	0.84[ASN][1000 genomes]
rs12508992	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511212	0.94[ASN][1000 genomes]
rs12511575	0.91[ASN][1000 genomes]
rs13133144	0.82[AFR][1000 genomes]
rs13137229	0.80[ASN][1000 genomes]
rs13145290	0.92[AFR][1000 genomes]
rs16996019	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17000786	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17000794	0.94[ASN][1000 genomes]
rs17000864	0.94[ASN][1000 genomes]
rs186563	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089253	0.94[ASN][1000 genomes]
rs2175640	0.84[ASN][1000 genomes]
rs2271472	0.92[AFR][1000 genomes]
rs28573275	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28680723	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869175	0.83[AFR][1000 genomes]
rs324686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324698	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324703	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324709	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs324712	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324713	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324719	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324722	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324723	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324730	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324731	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324733	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324735	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324738	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324740	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855591	0.81[ASN][1000 genomes]
rs4262008	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859408	0.83[AFR][1000 genomes]
rs4859409	0.91[AFR][1000 genomes]
rs4859555	0.89[AFR][1000 genomes]
rs61603278	0.94[ASN][1000 genomes]
rs6531901	0.82[AFR][1000 genomes]
rs6531934	0.94[ASN][1000 genomes]
rs6822619	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6827016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856162	0.94[ASN][1000 genomes]
rs72858061	0.94[ASN][1000 genomes]
rs7657198	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663617	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7680729	0.91[ASN][1000 genomes]
rs7684778	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7693127	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
3	chr4:76676400-76730600	Weak transcription	Spleen	Spleen
4	chr4:76677000-76736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:76685800-76738400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr4:76688200-76738200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:76697600-76734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:76698000-76735400	Weak transcription	Small Intestine	intestine
9	chr4:76705000-76730800	Weak transcription	Fetal Heart	heart
10	chr4:76705800-76730600	Weak transcription	Fetal Brain Female	brain
11	chr4:76706000-76730600	Weak transcription	Aorta	Aorta
12	chr4:76706000-76732000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:76706000-76732000	Weak transcription	Gastric	stomach
14	chr4:76707800-76738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:76708400-76735400	Weak transcription	Right Ventricle	heart
16	chr4:76712200-76730600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:76712600-76730600	Weak transcription	Brain Germinal Matrix	brain
18	chr4:76712600-76735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:76713800-76730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:76715000-76730800	Weak transcription	Pancreas	Pancrea
21	chr4:76715000-76734000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:76715000-76734600	Weak transcription	Esophagus	oesophagus
23	chr4:76716000-76737000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:76718200-76735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:76720400-76737000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:76720400-76738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:76720600-76737000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:76720600-76737000	Strong transcription	Osteobl	bone
29	chr4:76720600-76737200	Strong transcription	Liver	Liver
30	chr4:76720800-76736600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr4:76720800-76736800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr4:76720800-76737000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:76720800-76737000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:76721000-76736400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:76721000-76736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:76721000-76737000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:76721200-76736800	Strong transcription	Fetal Intestine Large	intestine
38	chr4:76721400-76737000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:76721400-76738200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:76721400-76738200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:76721800-76736800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:76722400-76738400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:76722600-76734200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:76722800-76732000	Weak transcription	Colonic Mucosa	Colon
45	chr4:76723200-76730600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr4:76723400-76730800	Weak transcription	Psoas Muscle	Psoas
47	chr4:76724000-76736800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:76724400-76736800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr4:76724800-76737200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:76724800-76738200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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