Variant report

Variant	rs12602396
Chromosome Location	chr17:67085508-67085509
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	KAP1	chr17:67084776-67085691	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67084611..67087550-chr17:67148578..67150089,2	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10491178	0.82[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs11656320	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12103556	0.82[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs12600759	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12601012	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs12602766	0.94[ASN][1000 genomes]
rs12602816	0.82[CHB][hapmap]
rs12938420	0.98[ASN][1000 genomes]
rs12945932	0.98[ASN][1000 genomes]
rs12948410	0.98[ASN][1000 genomes]
rs1468514	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16973562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973656	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs16973672	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16973722	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs1860120	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2233767	0.82[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs2233768	0.80[ASN][1000 genomes]
rs2286419	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2302289	0.98[ASN][1000 genomes]
rs28579127	0.84[MEX][hapmap]
rs2886048	0.82[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs35991088	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs41496448	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4968786	0.82[CHB][hapmap]
rs4968837	0.94[ASN][1000 genomes]
rs4968844	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs4968991	0.84[MEX][hapmap]
rs4968996	0.98[ASN][1000 genomes]
rs58452744	0.94[ASN][1000 genomes]
rs6502001	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6502002	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6502005	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7209351	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7212506	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7212963	0.98[ASN][1000 genomes]
rs7222660	0.84[MEX][hapmap]
rs73356149	0.81[ASN][1000 genomes]
rs736528	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7501583	0.98[ASN][1000 genomes]
rs764178	0.82[CHB][hapmap]
rs8065842	0.94[ASN][1000 genomes]
rs8067965	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8068468	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs8080508	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs8081118	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8082114	0.90[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs9282553	1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9282554	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9282555	0.94[ASN][1000 genomes]
rs9889289	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9896308	0.98[ASN][1000 genomes]
rs9904389	0.86[ASN][1000 genomes]
rs9909265	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	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
7	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
2	chr17:67067200-67099600	Weak transcription	Gastric	stomach
3	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
5	chr17:67075600-67085600	Strong transcription	Fetal Lung	lung
6	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr17:67079400-67087400	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:67079400-67090600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67079400-67093600	Weak transcription	Fetal Stomach	stomach
11	chr17:67079400-67095600	Weak transcription	Psoas Muscle	Psoas
12	chr17:67079400-67112200	Strong transcription	Liver	Liver
13	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
15	chr17:67079600-67091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
18	chr17:67080600-67086600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:67080800-67088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:67080800-67088600	Weak transcription	GM12878-XiMat	blood
21	chr17:67080800-67090800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
23	chr17:67081200-67086200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:67081200-67088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:67081200-67088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:67081200-67090800	Weak transcription	Fetal Muscle Leg	muscle
27	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr17:67081400-67089400	Weak transcription	Ovary	ovary
29	chr17:67081400-67090400	Weak transcription	Left Ventricle	heart
30	chr17:67081400-67095000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
32	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:67083800-67090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr17:67084200-67089000	Weak transcription	Adipose Nuclei	Adipose
35	chr17:67085000-67086600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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