Variant report

Variant	rs2364315
Chromosome Location	chr17:67099129-67099130
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	chr17:67098987-67099209	K562	blood:	n/a	chr17:67099127-67099135

No.	Distal block	Cell Line	Cell type
1	chr17:67091911..67095488-chr17:67096351..67099862,4	K562	blood:
2	chr17:67088137..67090811-chr17:67098460..67099975,2	K562	blood:
3	chr17:67085517..67087191-chr17:67098879..67100448,2	K562	blood:
4	chr17:67098233..67101602-chr17:67102782..67105641,3	K562	blood:
5	chr17:67096035..67097886-chr17:67098176..67100772,2	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11077942	0.91[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11654867	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11657954	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11659091	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12453921	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12942011	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12942993	0.95[ASN][1000 genomes]
rs1974575	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2098034	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302132	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302133	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302134	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2302290	0.87[CEU][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968833	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968995	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5025273	0.81[ASN][1000 genomes]
rs740517	0.87[CEU][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7504026	0.80[ASN][1000 genomes]
rs763920	0.95[CEU][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9282552	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9914684	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67067200-67099600	Weak transcription	Gastric	stomach
2	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:67079400-67112200	Strong transcription	Liver	Liver
6	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
8	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
10	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
11	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
13	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr17:67085800-67099600	Weak transcription	Lung	lung
15	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:67089800-67102200	Weak transcription	GM12878-XiMat	blood
18	chr17:67090400-67110000	Strong transcription	Adipose Nuclei	Adipose
19	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr17:67091600-67104400	Weak transcription	Left Ventricle	heart
21	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
23	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
24	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
25	chr17:67096400-67099400	Weak transcription	Fetal Brain Male	brain
26	chr17:67096400-67099800	Weak transcription	Ovary	ovary
27	chr17:67096400-67104400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr17:67097000-67099400	Enhancers	K562	blood
30	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
31	chr17:67097200-67105000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:67097400-67099200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:67098600-67103200	Weak transcription	Fetal Lung	lung
34	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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