Variant report

Variant	rs10512524
Chromosome Location	chr17:67113235-67113236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:67111434-67113689	GM12891	blood:	n/a	n/a
2	TBP	chr17:67111408-67115044	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ABCA6	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10512522	1.00[EUR][1000 genomes]
rs10512525	1.00[EUR][1000 genomes]
rs12103695	1.00[EUR][1000 genomes]
rs12103736	1.00[EUR][1000 genomes]
rs13342218	1.00[EUR][1000 genomes]
rs16973430	1.00[EUR][1000 genomes]
rs16973507	1.00[EUR][1000 genomes]
rs16973508	1.00[EUR][1000 genomes]
rs16973511	1.00[EUR][1000 genomes]
rs16973554	1.00[EUR][1000 genomes]
rs16973575	0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2058128	1.00[EUR][1000 genomes]
rs28579127	1.00[EUR][1000 genomes]
rs28777976	1.00[EUR][1000 genomes]
rs28851500	1.00[EUR][1000 genomes]
rs3863518	1.00[EUR][1000 genomes]
rs4968991	1.00[EUR][1000 genomes]
rs58968107	1.00[EUR][1000 genomes]
rs61744800	1.00[EUR][1000 genomes]
rs7216483	1.00[EUR][1000 genomes]
rs7216499	1.00[EUR][1000 genomes]
rs7220968	1.00[EUR][1000 genomes]
rs7222660	1.00[EUR][1000 genomes]
rs72559406	1.00[EUR][1000 genomes]
rs73354278	1.00[EUR][1000 genomes]
rs8065592	1.00[EUR][1000 genomes]
rs8076805	1.00[EUR][1000 genomes]
rs8081075	1.00[EUR][1000 genomes]
rs9889750	1.00[EUR][1000 genomes]
rs9890027	1.00[EUR][1000 genomes]
rs9890160	1.00[EUR][1000 genomes]
rs9890600	1.00[EUR][1000 genomes]
rs9890654	1.00[EUR][1000 genomes]
rs9892453	1.00[EUR][1000 genomes]
rs9893173	1.00[EUR][1000 genomes]
rs9894894	1.00[EUR][1000 genomes]
rs9895934	1.00[EUR][1000 genomes]
rs9899675	1.00[EUR][1000 genomes]
rs9899818	1.00[EUR][1000 genomes]
rs9900211	1.00[EUR][1000 genomes]
rs9901117	1.00[EUR][1000 genomes]
rs9901228	1.00[EUR][1000 genomes]
rs9902715	1.00[EUR][1000 genomes]
rs9908650	1.00[EUR][1000 genomes]
rs9910224	1.00[EUR][1000 genomes]
rs9913052	1.00[EUR][1000 genomes]
rs9914407	1.00[EUR][1000 genomes]
rs9915531	1.00[EUR][1000 genomes]
rs9916254	1.00[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	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	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:36 , 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	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
3	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
4	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
5	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
11	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
12	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
13	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
15	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
17	chr17:67103200-67113400	Strong transcription	Fetal Lung	lung
18	chr17:67104800-67114600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
20	chr17:67108000-67117400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:67108400-67114200	Weak transcription	Ovary	ovary
22	chr17:67109400-67114400	Weak transcription	HUVEC	blood vessel
23	chr17:67109600-67129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:67110000-67114200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:67110000-67114200	Weak transcription	Adipose Nuclei	Adipose
26	chr17:67110800-67114400	Enhancers	Primary B cells from cord blood	blood
27	chr17:67110800-67115600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr17:67111000-67114000	Weak transcription	Right Atrium	heart
29	chr17:67111200-67117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:67111800-67114000	Weak transcription	Fetal Heart	heart
31	chr17:67112400-67114200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:67112400-67114400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr17:67113000-67114000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr17:67113000-67114000	Active TSS	GM12878-XiMat	blood
35	chr17:67113000-67114000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr17:67113000-67114200	Strong transcription	Liver	Liver

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