Variant report

Variant	rs62058993
Chromosome Location	chr17:20944549-20944550
allele	C/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	chr17:20943721..20945424-chr17:21006912..21008982,2	K562	blood:
2	chr17:20943445..20945736-chr17:21186305..21189168,3	K562	blood:
3	chr17:20923323..20925346-chr17:20944193..20946472,2	MCF-7	breast:
4	chr17:20923120..20926842-chr17:20942462..20946048,5	K562	blood:
5	chr17:20944286..20948317-chr17:21114820..21119740,4	K562	blood:
6	chr17:20922289..20926435-chr17:20942892..20947042,7	MCF-7	breast:
7	chr17:20923333..20926205-chr17:20942462..20944595,2	K562	blood:
8	chr17:20942946..20947008-chr17:21027887..21030893,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction
ENSG00000034152	Chromatin interaction
ENSG00000235530	Chromatin interaction
ENSG00000178307	Chromatin interaction
ENSG00000109016	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10512423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11204329	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204331	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11541311	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11651500	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11652224	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11653213	0.80[AMR][1000 genomes]
rs11653504	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11654801	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11655985	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11656662	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11656874	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11657155	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11658178	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11869271	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11870338	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16942330	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16962375	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2009757	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2291035	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3785544	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3891644	0.81[ASN][1000 genomes]
rs55675922	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62056768	0.80[AMR][1000 genomes]
rs62056770	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62056771	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62056832	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62058987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62058990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62058991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62059000	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62059001	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs716959	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7217797	0.80[AMR][1000 genomes]
rs7218520	0.80[ASN][1000 genomes]
rs7224752	0.84[ASN][1000 genomes]
rs8079468	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv827918	chr17:20941127-20951156	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv827921	chr17:20943553-20951115	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20942400-20944800	Enhancers	Spleen	Spleen
2	chr17:20942600-20945000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:20942800-20944600	Flanking Active TSS	HepG2	liver
4	chr17:20942800-20944800	Enhancers	Stomach Mucosa	stomach
5	chr17:20942800-20945600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr17:20943000-20944800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:20943000-20947200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr17:20943200-20944800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr17:20943200-20945200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:20943200-20947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:20943200-20947200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:20943200-20947200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr17:20943400-20944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:20943400-20945800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:20943400-20947200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:20943400-20947200	Active TSS	Aorta	Aorta
17	chr17:20943400-20947200	Active TSS	Brain Angular Gyrus	brain
18	chr17:20943400-20947200	Active TSS	Ovary	ovary
19	chr17:20943400-20947200	Active TSS	GM12878-XiMat	blood
20	chr17:20943400-20947200	Active TSS	NHDF-Ad	bronchial
21	chr17:20943400-20947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:20943400-20947400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr17:20943600-20944600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr17:20943600-20944600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr17:20943600-20944600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr17:20943600-20944600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:20943600-20944600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr17:20943600-20944600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr17:20943600-20945000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:20943600-20945400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr17:20943600-20947000	Active TSS	Colonic Mucosa	Colon
32	chr17:20943600-20947200	Active TSS	HSMMtube	muscle
33	chr17:20943600-20947600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:20943600-20947800	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr17:20943600-20947800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr17:20943800-20944600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr17:20943800-20944600	Flanking Active TSS	Liver	Liver
38	chr17:20943800-20944600	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr17:20943800-20945000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:20943800-20945200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr17:20943800-20945200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr17:20943800-20945200	Active TSS	Right Atrium	heart
43	chr17:20943800-20945800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr17:20943800-20945800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:20943800-20946800	Active TSS	HMEC	breast
46	chr17:20943800-20947000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:20943800-20947000	Active TSS	HSMM	muscle
48	chr17:20943800-20947000	Active TSS	NH-A	brain
49	chr17:20943800-20947200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:20943800-20947200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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