Variant report

Variant	rs997781
Chromosome Location	chr17:67117688-67117689
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	chr17:67112395..67115325-chr17:67117156..67120723,3	K562	blood:
2	chr17:67115823..67118302-chr17:67121333..67123082,2	K562	blood:

Variant related genes	Relation type
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10775358	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10775359	0.82[ASN][1000 genomes]
rs1158495	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs11652530	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656539	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12162136	0.83[EUR][1000 genomes]
rs12453914	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12601388	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12939282	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940298	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12952117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12953127	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1558166	0.86[ASN][1000 genomes]
rs16973567	0.85[CHB][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1968100	0.84[ASN][1000 genomes]
rs1974576	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1974577	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1990335	0.83[EUR][1000 genomes]
rs2041170	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041171	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108738	0.82[ASN][1000 genomes]
rs2190900	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2215148	0.85[ASN][1000 genomes]
rs2364986	0.86[ASN][1000 genomes]
rs2364993	0.90[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs3744489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4141177	0.83[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4334355	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577157	0.83[ASN][1000 genomes]
rs4603621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968785	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs4968838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968839	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4968843	0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs4968849	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4968851	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs5025273	0.83[EUR][1000 genomes]
rs6501183	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207609	0.81[EUR][1000 genomes]
rs7208586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210259	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7213831	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7214079	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7216899	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs7217887	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs740518	0.86[ASN][1000 genomes]
rs740520	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7503217	0.82[EUR][1000 genomes]
rs8064595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066449	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs8070232	0.83[YRI][hapmap]
rs8074654	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs8077252	0.85[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8077551	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs8078314	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8079981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8080863	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9303012	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs976698	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs981452	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9892172	0.84[ASN][1000 genomes]
rs9898868	0.84[ASN][1000 genomes]
rs9899837	0.84[ASN][1000 genomes]
rs9902643	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs9904672	0.84[ASN][1000 genomes]
rs9911770	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs9912127	0.84[CHB][hapmap]
rs9916084	0.82[ASN][1000 genomes]
rs9916693	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
3	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
7	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
8	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
9	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
13	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
14	chr17:67109600-67129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:67114400-67119800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
17	chr17:67114800-67118400	Weak transcription	HUVEC	blood vessel
18	chr17:67114800-67122200	Weak transcription	Adipose Nuclei	Adipose
19	chr17:67115600-67134000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:67115800-67118200	Weak transcription	GM12878-XiMat	blood
21	chr17:67115800-67118800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:67115800-67121800	Weak transcription	NHDF-Ad	bronchial
23	chr17:67115800-67130600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:67117200-67119600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:67117200-67119800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:67117400-67119000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:67117400-67119000	Strong transcription	Fetal Lung	lung
28	chr17:67117600-67117800	Flanking Active TSS	Liver	Liver
29	chr17:67117600-67117800	ZNF genes & repeats	Ovary	ovary

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