Variant report

Variant	rs188096679
Chromosome Location	chr17:67087566-67087567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr17:67086928-67087641	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:67043107..67046503-chr17:67087487..67090701,3	K562	blood:
2	chr17:67087380..67090007-chr17:67103818..67105746,2	K562	blood:
3	chr17:67083309..67086380-chr17:67087124..67091050,4	K562	blood:
4	chr17:67074921..67077077-chr17:67087340..67089647,2	K562	blood:
5	chr17:67087494..67092191-chr17:67094325..67097858,5	K562	blood:
6	chr17:67072787..67074719-chr17:67087399..67089601,2	K562	blood:

No data

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000265331	Chromatin interaction
ENSG00000154262	Chromatin interaction
ENSG00000154258	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
8	esv2556464	chr17:67086916-67088573	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv3412214	chr17:67086932-67089005	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	esv2069389	chr17:67087464-67088168	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
11	esv3314880	chr17:67087531-67088048	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
12	esv3511513	chr17:67087552-67088075	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
13	esv3511510	chr17:67087565-67088058	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 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	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr17:67079400-67090600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:67079400-67093600	Weak transcription	Fetal Stomach	stomach
9	chr17:67079400-67095600	Weak transcription	Psoas Muscle	Psoas
10	chr17:67079400-67112200	Strong transcription	Liver	Liver
11	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
13	chr17:67079600-67091600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:67079600-67101200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
16	chr17:67080800-67088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:67080800-67088600	Weak transcription	GM12878-XiMat	blood
18	chr17:67080800-67090800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
20	chr17:67081200-67088200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:67081200-67088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:67081200-67090800	Weak transcription	Fetal Muscle Leg	muscle
23	chr17:67081200-67102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:67081400-67089400	Weak transcription	Ovary	ovary
25	chr17:67081400-67090400	Weak transcription	Left Ventricle	heart
26	chr17:67081400-67095000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
28	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr17:67083800-67090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:67084200-67089000	Weak transcription	Adipose Nuclei	Adipose
31	chr17:67085600-67088600	Weak transcription	Fetal Lung	lung
32	chr17:67085800-67099600	Weak transcription	Lung	lung
33	chr17:67086800-67087600	ZNF genes & repeats	K562	blood
34	chr17:67087000-67089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:67087400-67087600	Enhancers	Colon Smooth Muscle	Colon
38	chr17:67087400-67087800	Weak transcription	Primary monocytes fromperipheralblood	blood

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