Variant report

Variant	rs4968996
Chromosome Location	chr17:67075891-67075892
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	chr17:67074921..67077077-chr17:67087340..67089647,2	K562	blood:
2	chr17:67074676..67077837-chr17:67079761..67081398,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10491178	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11077946	0.83[EUR][1000 genomes]
rs11656320	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12103556	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12600759	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12601012	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12602007	0.84[EUR][1000 genomes]
rs12602396	0.98[ASN][1000 genomes]
rs12602766	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12602816	0.81[EUR][1000 genomes]
rs12602962	0.84[EUR][1000 genomes]
rs12938420	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945932	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948410	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468514	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16973562	0.98[ASN][1000 genomes]
rs16973656	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16973672	0.80[ASN][1000 genomes]
rs16973722	0.81[EUR][1000 genomes]
rs1860120	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1968099	0.81[EUR][1000 genomes]
rs2233767	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2233768	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286419	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302289	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886048	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36145749	0.84[EUR][1000 genomes]
rs41496448	0.81[EUR][1000 genomes]
rs4968786	0.81[EUR][1000 genomes]
rs4968837	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968844	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57736258	0.84[EUR][1000 genomes]
rs58452744	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58761646	0.81[EUR][1000 genomes]
rs6502001	1.00[CEU][hapmap]
rs6502002	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502005	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209351	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7212506	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7212963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73356149	0.83[ASN][1000 genomes]
rs736528	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7501583	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501929	0.81[EUR][1000 genomes]
rs758255	0.83[EUR][1000 genomes]
rs8065842	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8067965	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8068468	0.84[EUR][1000 genomes]
rs8080508	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081118	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8082114	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282553	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282554	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282555	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9889289	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9896308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904389	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9905622	0.81[EUR][1000 genomes]
rs9909265	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1066998	chr17:67060038-67090475	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67057800-67077600	Weak transcription	Fetal Brain Male	brain
2	chr17:67065600-67076400	Weak transcription	Esophagus	oesophagus
3	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
4	chr17:67065800-67076400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:67066000-67078800	Weak transcription	NHDF-Ad	bronchial
6	chr17:67067200-67099600	Weak transcription	Gastric	stomach
7	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:67070200-67079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:67070400-67076400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
11	chr17:67072800-67078800	Strong transcription	Liver	Liver
12	chr17:67073000-67078800	Strong transcription	Adipose Nuclei	Adipose
13	chr17:67073600-67076600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr17:67073600-67078000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:67074000-67076400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:67074000-67078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:67074000-67078600	Weak transcription	GM12878-XiMat	blood
18	chr17:67074200-67076400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:67074200-67078800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr17:67074400-67078000	Weak transcription	Fetal Muscle Leg	muscle
21	chr17:67074400-67078800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:67074600-67083800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:67075200-67078800	Strong transcription	Ovary	ovary
24	chr17:67075200-67078800	Weak transcription	Psoas Muscle	Psoas
25	chr17:67075200-67081200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr17:67075400-67078600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:67075600-67076600	Enhancers	HepG2	liver
28	chr17:67075600-67085600	Strong transcription	Fetal Lung	lung
29	chr17:67075800-67077000	Strong transcription	Left Ventricle	heart
30	chr17:67075800-67079000	Weak transcription	Duodenum Mucosa	Duodenum

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