Variant report

Variant	rs58624595
Chromosome Location	chr17:59977174-59977175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59976007..59978525-chr17:60003868..60005624,2	K562	blood:
2	chr17:59972585..59974357-chr17:59975555..59977763,3	K562	blood:
3	chr17:59975871..59977661-chr20:55841428..55844280,2	MCF-7	breast:
4	chr17:59972671..59974357-chr17:59976197..59977763,2	K562	blood:
5	chr17:59976361..59978998-chr20:55676841..55679015,2	MCF-7	breast:
6	chr17:59976105..59981042-chr17:59982250..59988291,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10512492	0.82[AMR][1000 genomes]
rs11079459	0.88[AMR][1000 genomes]
rs12451910	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12452094	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12452732	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12600620	0.85[AMR][1000 genomes]
rs12600909	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12604037	0.93[AMR][1000 genomes]
rs16945692	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16945756	0.83[AMR][1000 genomes]
rs16945759	0.83[AMR][1000 genomes]
rs2271576	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744434	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968408	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4968451	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968452	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4968454	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4968455	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4968456	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968457	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4968459	0.80[ASN][1000 genomes]
rs4968460	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4968461	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968463	0.91[AMR][1000 genomes]
rs4988344	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56794817	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58085921	0.81[ASN][1000 genomes]
rs59080342	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61169879	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61658218	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73332565	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73332580	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73332598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73334621	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8065778	0.83[AMR][1000 genomes]
rs8066964	0.83[AMR][1000 genomes]
rs8074890	0.82[AMR][1000 genomes]
rs8080599	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081917	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9630735	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
3	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
4	chr17:59941600-59979600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
6	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
7	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
8	chr17:59941800-59979200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr17:59941800-59979200	Weak transcription	Brain Angular Gyrus	brain
10	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:59943600-59989600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:59946600-59989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:59947400-59977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:59948000-59981800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr17:59948200-59980600	Weak transcription	HMEC	breast
16	chr17:59948200-59986800	Weak transcription	Fetal Kidney	kidney
17	chr17:59950000-59979200	Weak transcription	NHLF	lung
18	chr17:59950800-59981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:59951400-59992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:59951600-59989600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr17:59952800-59981400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr17:59953800-59985600	Weak transcription	Small Intestine	intestine
23	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:59954600-59984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:59955200-59979600	Weak transcription	HSMMtube	muscle
26	chr17:59958000-59987600	Weak transcription	Esophagus	oesophagus
27	chr17:59959000-59996800	Weak transcription	Gastric	stomach
28	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
29	chr17:59962400-59979400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr17:59963400-59989600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:59963800-59989600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:59964000-59983200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:59964800-59979200	Weak transcription	Hela-S3	cervix
34	chr17:59965000-59977600	Weak transcription	NHEK	skin
35	chr17:59965600-59981400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:59966000-59978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:59966000-59984600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr17:59966000-60004200	Weak transcription	Psoas Muscle	Psoas
39	chr17:59966200-59981600	Weak transcription	Thymus	Thymus
40	chr17:59966200-59982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:59966200-59983000	Weak transcription	Spleen	Spleen
42	chr17:59966200-59987600	Weak transcription	Ovary	ovary
43	chr17:59966200-59998000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:59967600-59977200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:59967600-59979800	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:59967600-59980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:59967600-59983400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr17:59967600-59987000	Weak transcription	Fetal Brain Male	brain
49	chr17:59967600-59988400	Weak transcription	K562	blood
50	chr17:59967800-59977600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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