Variant report

Variant	rs80281653
Chromosome Location	chr17:17182121-17182122
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 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	chr17:17166616..17168183-chr17:17181241..17182822,2	MCF-7	breast:
4	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:
5	chr17:17179863..17182572-chr17:17182928..17185820,4	K562	blood:
6	chr17:17108079..17111792-chr17:17180254..17184300,4	K562	blood:
7	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:
8	chr17:17159982..17161623-chr17:17181233..17182802,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179598	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000205309	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000141030	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	chr17:17177400-17182400	Weak transcription	Fetal Brain Male	brain
14	chr17:17177400-17182400	Weak transcription	NH-A	brain
15	chr17:17177400-17182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr17:17177400-17182600	Weak transcription	NHLF	lung
17	chr17:17177400-17182800	Weak transcription	Fetal Lung	lung
18	chr17:17177400-17183200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:17177600-17183000	Weak transcription	Small Intestine	intestine
20	chr17:17177800-17182400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr17:17177800-17182600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:17177800-17182600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:17177800-17182600	Weak transcription	Brain Substantia Nigra	brain
24	chr17:17177800-17182600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:17178200-17182600	Weak transcription	Osteobl	bone
26	chr17:17178400-17182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:17178400-17182600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:17178400-17182600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr17:17178400-17182600	Weak transcription	HUVEC	blood vessel
30	chr17:17178400-17182800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr17:17178400-17183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:17178600-17183000	Weak transcription	Colonic Mucosa	Colon
33	chr17:17178600-17183200	Weak transcription	Esophagus	oesophagus
34	chr17:17178800-17182400	Weak transcription	Gastric	stomach
35	chr17:17178800-17182400	Weak transcription	Lung	lung
36	chr17:17178800-17182800	Weak transcription	Fetal Kidney	kidney
37	chr17:17178800-17183000	Weak transcription	Spleen	Spleen
38	chr17:17178800-17183200	Weak transcription	Left Ventricle	heart
39	chr17:17179000-17182600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr17:17179000-17182600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:17179000-17182600	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:17179000-17183600	Weak transcription	Aorta	Aorta
43	chr17:17179200-17183200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:17179200-17183200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr17:17179400-17182400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:17179400-17182600	Weak transcription	Brain Germinal Matrix	brain
47	chr17:17179400-17183000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr17:17179600-17182400	Weak transcription	Fetal Muscle Leg	muscle
49	chr17:17179600-17182400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:17179600-17182400	Weak transcription	Rectal Mucosa Donor 29	rectum

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