Variant report

Variant	rs6851992
Chromosome Location	chr4:79508886-79508887
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	chr4:79508043..79510860-chr4:79533218..79535822,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10003947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13126934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1472365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587222	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs1587223	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1874486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874488	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867462	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4466067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975147	1.00[CHB][hapmap]
rs6533804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833514	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7654600	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682502	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867677	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs950699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
3	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79488400-79523600	Weak transcription	Esophagus	oesophagus
5	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79488600-79512200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:79489800-79513600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:79490000-79523400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:79490600-79521000	Weak transcription	Fetal Heart	heart
10	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79491000-79510200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:79491000-79512200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
14	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:79491600-79512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:79491800-79542600	Weak transcription	NH-A	brain
18	chr4:79492000-79531600	Strong transcription	HMEC	breast
19	chr4:79499600-79510800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:79500000-79522200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:79500200-79509600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr4:79500200-79510600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr4:79500400-79509200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:79501400-79516000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:79502200-79510800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
27	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
28	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:79503200-79521800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:79503600-79509600	Weak transcription	Hela-S3	cervix
31	chr4:79503800-79512000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:79505800-79517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:79506200-79512000	Strong transcription	NHEK	skin
34	chr4:79506400-79509000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:79506400-79509200	Weak transcription	Fetal Stomach	stomach
36	chr4:79506400-79517200	Weak transcription	Pancreas	Pancrea
37	chr4:79506400-79517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:79506600-79510200	Weak transcription	Primary B cells from cord blood	blood
39	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
40	chr4:79507000-79510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:79507000-79511200	Strong transcription	Fetal Intestine Large	intestine
42	chr4:79507000-79511600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:79507000-79512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:79507000-79512600	Weak transcription	NHLF	lung
45	chr4:79507000-79513000	Weak transcription	Stomach Mucosa	stomach
46	chr4:79507000-79513400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:79507000-79513400	Weak transcription	K562	blood
48	chr4:79507600-79521000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr4:79508000-79509800	Strong transcription	Lung	lung
50	chr4:79508000-79510000	Strong transcription	Gastric	stomach

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