Variant report

Variant	rs575371947
Chromosome Location	chr17:17181887-17181888
allele	G/T
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:9)
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	POLR2A	chr17:17181666-17181900	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17177648..17180936-chr17:17181197..17184729,6	MCF-7	breast:
2	chr17:17139412..17141506-chr17:17180331..17182233,2	K562	blood:
3	chr17:17179045..17181973-chr17:17206782..17208341,2	MCF-7	breast:
4	chr17:17166616..17168183-chr17:17181241..17182822,2	MCF-7	breast:
5	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
6	chr17:17179863..17182572-chr17:17182928..17185820,4	K562	blood:
7	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
8	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:
9	chr17:17159982..17161623-chr17:17181233..17182802,2	K562	blood:

No data

Variant related genes	Relation type
COPS3	TF binding region
ENSG00000205309	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000179598	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv9499	chr17:17181611-17187670	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17163600-17182600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:17169800-17183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:17171600-17182400	Weak transcription	Fetal Heart	heart
4	chr17:17171800-17183000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:17174200-17182400	Weak transcription	HMEC	breast
6	chr17:17174400-17182600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr17:17174600-17182400	Weak transcription	Psoas Muscle	Psoas
8	chr17:17174600-17182400	Weak transcription	Stomach Mucosa	stomach
9	chr17:17174600-17182400	Weak transcription	NHEK	skin
10	chr17:17174600-17183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:17174800-17182600	Weak transcription	HSMMtube	muscle
12	chr17:17174800-17183000	Weak transcription	HSMM	muscle
13	chr17:17177000-17182000	Weak transcription	NHDF-Ad	bronchial
14	chr17:17177400-17182000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr17:17177400-17182400	Weak transcription	Fetal Brain Male	brain
16	chr17:17177400-17182400	Weak transcription	NH-A	brain
17	chr17:17177400-17182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:17177400-17182600	Weak transcription	NHLF	lung
19	chr17:17177400-17182800	Weak transcription	Fetal Lung	lung
20	chr17:17177400-17183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:17177600-17182000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:17177600-17183000	Weak transcription	Small Intestine	intestine
23	chr17:17177800-17182400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr17:17177800-17182600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:17177800-17182600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:17177800-17182600	Weak transcription	Brain Substantia Nigra	brain
27	chr17:17177800-17182600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:17178200-17182600	Weak transcription	Osteobl	bone
29	chr17:17178400-17182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:17178400-17182600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:17178400-17182600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr17:17178400-17182600	Weak transcription	HUVEC	blood vessel
33	chr17:17178400-17182800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:17178400-17183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:17178600-17183000	Weak transcription	Colonic Mucosa	Colon
36	chr17:17178600-17183200	Weak transcription	Esophagus	oesophagus
37	chr17:17178800-17182400	Weak transcription	Gastric	stomach
38	chr17:17178800-17182400	Weak transcription	Lung	lung
39	chr17:17178800-17182800	Weak transcription	Fetal Kidney	kidney
40	chr17:17178800-17183000	Weak transcription	Spleen	Spleen
41	chr17:17178800-17183200	Weak transcription	Left Ventricle	heart
42	chr17:17179000-17182000	Weak transcription	Thymus	Thymus
43	chr17:17179000-17182600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:17179000-17182600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:17179000-17182600	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:17179000-17183600	Weak transcription	Aorta	Aorta
47	chr17:17179200-17182000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:17179200-17183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:17179200-17183200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:17179400-17182000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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