Variant report

Variant	rs62056770
Chromosome Location	chr17:20897167-20897168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20895064..20900549-chr17:20901410..20906180,6	K562	blood:
2	chr17:20895463..20898047-chr17:20898321..20900254,2	K562	blood:
3	chr17:20846131..20848515-chr17:20895317..20897201,2	MCF-7	breast:
4	chr17:20889603..20892267-chr17:20894765..20897394,3	MCF-7	breast:
5	chr17:20896404..20898523-chr17:20904680..20906876,2	K562	blood:

Variant related genes	Relation type
ENSG00000263986	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10512423	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11204325	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11204327	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11204329	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11204331	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11541311	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11650623	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11651078	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11651500	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11652224	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11653213	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11653504	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11654801	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11655512	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11655985	0.83[ASN][1000 genomes]
rs11656525	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11656662	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11656837	0.91[ASN][1000 genomes]
rs11656874	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11657155	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11658178	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11658389	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11658671	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658722	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11658742	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11658791	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11869271	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16942330	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16962375	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16962469	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16962470	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2009757	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291035	0.94[ASN][1000 genomes]
rs3785544	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3891644	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985937	0.91[EUR][1000 genomes]
rs4985938	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4985939	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4985944	0.82[ASN][1000 genomes]
rs62055504	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62055511	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62056764	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62056765	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62056768	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62056771	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62056832	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62058987	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62058990	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62058991	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62058993	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62059000	0.81[ASN][1000 genomes]
rs716959	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7217797	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7218520	0.97[ASN][1000 genomes]
rs8079468	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8080233	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9325900	0.88[ASN][1000 genomes]
rs9914432	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9972887	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20891000-20897400	Weak transcription	Gastric	stomach
2	chr17:20893000-20901600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:20893800-20901200	Weak transcription	Right Atrium	heart
4	chr17:20894800-20899000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:20895400-20897600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:20895600-20897200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:20895600-20897200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:20895800-20897200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:20895800-20897200	Enhancers	Brain Anterior Caudate	brain
10	chr17:20895800-20898000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:20896200-20897600	Weak transcription	Lung	lung
12	chr17:20896200-20898000	Enhancers	Hela-S3	cervix
13	chr17:20896400-20897200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:20896400-20898000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:20896400-20898400	Enhancers	Stomach Mucosa	stomach
16	chr17:20896400-20900400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:20896400-20901400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:20896400-20901600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:20896400-20902800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:20896600-20897200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:20896600-20897200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr17:20896600-20897400	Weak transcription	Fetal Intestine Large	intestine
23	chr17:20896600-20898200	Enhancers	Spleen	Spleen
24	chr17:20896600-20901800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:20896600-20901800	Weak transcription	HUVEC	blood vessel
26	chr17:20896600-20902000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:20896600-20906800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:20896800-20897200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:20896800-20897200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:20896800-20897400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr17:20896800-20897600	Enhancers	Brain Hippocampus Middle	brain
32	chr17:20896800-20897600	Enhancers	Brain Substantia Nigra	brain
33	chr17:20896800-20899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:20896800-20899400	Weak transcription	Right Ventricle	heart
35	chr17:20896800-20899600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr17:20896800-20900000	Weak transcription	Adipose Nuclei	Adipose
37	chr17:20896800-20900000	Weak transcription	Fetal Muscle Leg	muscle
38	chr17:20896800-20900600	Weak transcription	Esophagus	oesophagus
39	chr17:20896800-20900600	Weak transcription	Fetal Intestine Small	intestine
40	chr17:20896800-20900600	Weak transcription	Left Ventricle	heart
41	chr17:20896800-20900800	Weak transcription	Brain Germinal Matrix	brain
42	chr17:20896800-20900800	Weak transcription	Fetal Brain Female	brain
43	chr17:20896800-20901000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:20896800-20901000	Weak transcription	Ovary	ovary
45	chr17:20896800-20901400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:20896800-20901400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr17:20896800-20901400	Weak transcription	Fetal Lung	lung
48	chr17:20896800-20901600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:20896800-20901600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:20896800-20901600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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