Variant report

Variant	rs1990335
Chromosome Location	chr17:67074697-67074698
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67072787..67074719-chr17:67087399..67089601,2	K562	blood:
2	chr17:67074676..67077837-chr17:67079761..67081398,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11652530	0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs12162136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12453914	0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs12601388	0.82[EUR][1000 genomes]
rs12939282	0.82[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs12940298	0.81[CEU][hapmap];0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs12952117	0.91[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes]
rs16973567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041170	0.84[EUR][1000 genomes]
rs2041171	0.82[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2190900	0.82[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2302134	0.94[JPT][hapmap]
rs3744489	0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs4141177	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4334355	0.93[EUR][1000 genomes]
rs4603621	0.86[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes]
rs4968838	0.86[CEU][hapmap];0.89[CHB][hapmap];0.93[EUR][1000 genomes]
rs4968839	0.85[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs4968849	0.82[CHB][hapmap]
rs5025273	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs6501183	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7207609	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7208586	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs7213831	0.91[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7214079	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7217887	0.86[YRI][hapmap]
rs7503217	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064595	0.95[CEU][hapmap];0.89[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8077252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8078314	0.84[EUR][1000 genomes]
rs8079981	0.91[CEU][hapmap];0.89[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9303012	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs976698	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9902643	0.86[YRI][hapmap]
rs9916693	0.90[CEU][hapmap];0.89[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs997781	0.88[CHB][hapmap];0.83[EUR][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67056200-67075200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:67057800-67077600	Weak transcription	Fetal Brain Male	brain
3	chr17:67062800-67075800	Weak transcription	Left Ventricle	heart
4	chr17:67065600-67076400	Weak transcription	Esophagus	oesophagus
5	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
6	chr17:67065800-67076400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:67066000-67078800	Weak transcription	NHDF-Ad	bronchial
8	chr17:67067200-67099600	Weak transcription	Gastric	stomach
9	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:67070200-67079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:67070400-67076400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:67071000-67075200	Weak transcription	Ovary	ovary
13	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
14	chr17:67072800-67078800	Strong transcription	Liver	Liver
15	chr17:67073000-67078800	Strong transcription	Adipose Nuclei	Adipose
16	chr17:67073600-67076600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:67073600-67078000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:67073800-67075600	Weak transcription	Fetal Lung	lung
19	chr17:67073800-67075600	Weak transcription	HepG2	liver
20	chr17:67074000-67076400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr17:67074000-67078600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:67074000-67078600	Weak transcription	GM12878-XiMat	blood
23	chr17:67074200-67076400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:67074200-67078800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:67074400-67075200	Strong transcription	Psoas Muscle	Psoas
26	chr17:67074400-67078000	Weak transcription	Fetal Muscle Leg	muscle
27	chr17:67074400-67078800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:67074600-67083800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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