Variant report

Variant	rs17085224
Chromosome Location	chr5:95219145-95219146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95218349..95221486-chr5:95224324..95227675,3	K562	blood:
2	chr5:95195726..95197557-chr5:95217923..95219650,2	MCF-7	breast:
3	chr5:95218170..95220119-chr5:95292473..95294131,2	MCF-7	breast:
4	chr5:95211012..95214579-chr5:95216579..95219270,4	K562	blood:

Variant related genes	Relation type
ENSG00000250362	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10428657	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10428702	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs10515231	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10515233	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10515234	1.00[EUR][1000 genomes]
rs11948037	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12514954	0.82[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12515492	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12517786	1.00[EUR][1000 genomes]
rs12522489	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12523306	1.00[EUR][1000 genomes]
rs17085220	1.00[EUR][1000 genomes]
rs17085223	1.00[EUR][1000 genomes]
rs17085227	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085243	1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17085339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085373	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs17085393	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085426	1.00[EUR][1000 genomes]
rs2161317	1.00[JPT][hapmap]
rs28521883	1.00[EUR][1000 genomes]
rs3756701	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3777174	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs3777176	1.00[EUR][1000 genomes]
rs3777177	1.00[EUR][1000 genomes]
rs3777180	1.00[EUR][1000 genomes]
rs41276261	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55763081	1.00[EUR][1000 genomes]
rs56776515	1.00[EUR][1000 genomes]
rs58389685	1.00[EUR][1000 genomes]
rs60908902	1.00[EUR][1000 genomes]
rs61268106	1.00[EUR][1000 genomes]
rs6143071	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6556897	1.00[EUR][1000 genomes]
rs6861075	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6870388	1.00[EUR][1000 genomes]
rs6872006	1.00[EUR][1000 genomes]
rs6874371	1.00[EUR][1000 genomes]
rs6891082	1.00[EUR][1000 genomes]
rs6891633	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6893788	1.00[EUR][1000 genomes]
rs73771827	1.00[EUR][1000 genomes]
rs7700606	1.00[EUR][1000 genomes]
rs7724475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7736480	1.00[EUR][1000 genomes]
rs9687631	1.00[EUR][1000 genomes]
rs977128	1.00[EUR][1000 genomes]
rs977129	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95210200-95220000	Weak transcription	Right Ventricle	heart
2	chr5:95210600-95221800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:95212000-95224000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:95212400-95223800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:95212600-95219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95213000-95244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:95214000-95219200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:95214400-95224800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:95214400-95234200	Weak transcription	Fetal Brain Female	brain
10	chr5:95214400-95247800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:95214400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:95214600-95222000	Weak transcription	Left Ventricle	heart
13	chr5:95214600-95225000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:95214600-95230400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:95214800-95226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:95215000-95230200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:95215200-95223600	Weak transcription	A549	lung
18	chr5:95215200-95234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:95215400-95219600	Weak transcription	Fetal Intestine Small	intestine
20	chr5:95215600-95226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:95215600-95226000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:95215800-95244600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:95216200-95221600	Enhancers	HepG2	liver
24	chr5:95216200-95222000	Weak transcription	Fetal Thymus	thymus
25	chr5:95216600-95220200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:95216600-95222000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:95216600-95225800	Weak transcription	Colonic Mucosa	Colon
28	chr5:95216800-95223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:95217000-95223800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:95217200-95219400	Enhancers	Liver	Liver
31	chr5:95217600-95219200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:95217600-95219200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:95217800-95225600	Weak transcription	Lung	lung
34	chr5:95217800-95230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:95218000-95220800	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr5:95218000-95221000	Weak transcription	NH-A	brain
37	chr5:95218000-95222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:95218000-95225400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:95218000-95225800	Weak transcription	Aorta	Aorta
40	chr5:95218000-95226200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:95218000-95231000	Weak transcription	Right Atrium	heart
42	chr5:95218000-95242200	Weak transcription	Spleen	Spleen
43	chr5:95218200-95219200	Weak transcription	Adipose Nuclei	Adipose
44	chr5:95218200-95219400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:95218200-95219400	Weak transcription	HSMMtube	muscle
46	chr5:95218200-95221800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:95218200-95224400	Weak transcription	Brain Anterior Caudate	brain
48	chr5:95218200-95224800	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:95218200-95231600	Weak transcription	Fetal Heart	heart
50	chr5:95218200-95246200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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