Variant report

Variant	rs6854207
Chromosome Location	chr4:79216346-79216347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10008653	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10010118	0.84[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10015504	0.82[ASN][1000 genomes]
rs10023308	0.81[ASN][1000 genomes]
rs10023311	0.81[ASN][1000 genomes]
rs10023496	0.83[ASN][1000 genomes]
rs10027981	0.80[ASN][1000 genomes]
rs10028695	0.84[ASN][1000 genomes]
rs1017649	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10223012	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10461146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11730296	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11736213	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12500443	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12501798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502139	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502685	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502886	0.82[ASN][1000 genomes]
rs12504081	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12505633	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12506036	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12511033	0.84[ASN][1000 genomes]
rs12511360	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12511808	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12511889	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13107378	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13108102	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13114110	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13117388	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13119684	0.81[AMR][1000 genomes]
rs13136648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13138795	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1378239	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1454892	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454898	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454899	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1484344	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17455826	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1840391	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1840392	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1958276	0.83[ASN][1000 genomes]
rs2008786	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2124143	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2124144	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2168203	0.82[ASN][1000 genomes]
rs2198635	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28493765	0.80[ASN][1000 genomes]
rs2867012	0.80[ASN][1000 genomes]
rs28679752	0.83[ASN][1000 genomes]
rs28737438	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34321445	0.91[ASN][1000 genomes]
rs34398622	0.82[ASN][1000 genomes]
rs34535077	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs345507	0.84[ASN][1000 genomes]
rs34595864	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34643532	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35290872	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35291597	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35419939	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35683023	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35828300	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs385693	0.83[ASN][1000 genomes]
rs41537644	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4241623	0.83[ASN][1000 genomes]
rs4515188	0.85[AMR][1000 genomes]
rs4859918	0.82[ASN][1000 genomes]
rs4859920	0.82[ASN][1000 genomes]
rs4859923	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859924	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58101131	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62309861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310017	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62310019	0.81[ASN][1000 genomes]
rs62310021	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62310023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62310045	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6533565	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533571	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6815945	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6833721	0.82[CHB][hapmap]
rs6854043	0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6856362	0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72657047	0.97[ASN][1000 genomes]
rs7656032	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681247	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7686297	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7693120	0.82[AMR][1000 genomes]
rs7694740	0.82[ASN][1000 genomes]
rs7696792	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9307359	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs943821	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943822	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9762380	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9994502	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
2	chr4:79198600-79217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
4	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79204000-79217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:79208800-79218200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
11	chr4:79209200-79217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:79210600-79218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:79211400-79217200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:79212400-79217200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:79212800-79218000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:79213200-79218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:79213800-79217800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:79214000-79217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:79214000-79220200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:79214000-79220200	Weak transcription	Psoas Muscle	Psoas
21	chr4:79214000-79223400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:79215400-79218200	Weak transcription	Brain Germinal Matrix	brain
23	chr4:79215400-79218200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:79215600-79216800	Enhancers	Fetal Heart	heart
25	chr4:79215600-79217400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:79215600-79217400	Weak transcription	Fetal Stomach	stomach
27	chr4:79215600-79217600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:79215600-79217600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:79215600-79217600	Weak transcription	Osteobl	bone
30	chr4:79215600-79218200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:79215600-79219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:79215600-79219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:79215600-79219800	Weak transcription	NHEK	skin
34	chr4:79215600-79220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:79215600-79220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:79215600-79220200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:79215600-79223000	Weak transcription	Fetal Brain Male	brain
38	chr4:79215600-79229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:79215800-79216800	Weak transcription	Fetal Lung	lung
40	chr4:79215800-79217200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:79215800-79217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:79215800-79217400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:79215800-79217400	Weak transcription	NHDF-Ad	bronchial
44	chr4:79215800-79217600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:79215800-79217600	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:79215800-79217800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:79215800-79217800	Weak transcription	HSMMtube	muscle
48	chr4:79215800-79218000	Weak transcription	Hela-S3	cervix
49	chr4:79215800-79218000	Weak transcription	NH-A	brain
50	chr4:79215800-79218000	Weak transcription	NHLF	lung

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