Variant report

Variant	rs753765
Chromosome Location	chr17:59969000-59969001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59944363..59946403-chr17:59967188..59969654,2	K562	blood:
2	chr17:59967872..59970624-chr20:55729420..55732315,2	MCF-7	breast:
3	chr17:59967952..59972166-chr17:60003800..60006338,4	MCF-7	breast:
4	chr17:59968155..59970837-chr17:60077646..60079984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045196	0.82[AFR][1000 genomes]
rs10512491	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12601229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12601523	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12603627	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12603878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12937188	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16945638	1.00[MKK][hapmap]
rs16945670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16945724	1.00[ASW][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes]
rs16945762	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16945785	0.82[AFR][1000 genomes]
rs16945823	1.00[CEU][hapmap]
rs1809077	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014444	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs2378946	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4988340	0.84[CHB][hapmap];0.91[CHD][hapmap]
rs72843732	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72843737	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72843738	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843739	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843746	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72843759	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843762	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72843767	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72843769	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843770	0.82[AFR][1000 genomes]
rs72843771	0.82[AFR][1000 genomes]
rs72843772	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843775	0.80[EUR][1000 genomes]
rs72843778	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843782	0.82[AFR][1000 genomes]
rs72843785	0.82[AFR][1000 genomes]
rs8077835	0.82[ASN][1000 genomes]
rs8081200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9910451	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941400-59975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
4	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
5	chr17:59941600-59979600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
7	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
8	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
9	chr17:59941800-59969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:59941800-59971800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:59941800-59979200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:59941800-59979200	Weak transcription	Brain Angular Gyrus	brain
13	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:59943600-59989600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:59944400-59970000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:59946600-59989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:59947400-59977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:59948000-59972600	Weak transcription	NHDF-Ad	bronchial
19	chr17:59948000-59981800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:59948200-59980600	Weak transcription	HMEC	breast
21	chr17:59948200-59986800	Weak transcription	Fetal Kidney	kidney
22	chr17:59950000-59979200	Weak transcription	NHLF	lung
23	chr17:59950800-59981600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:59951000-59972400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:59951400-59992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:59951600-59989600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr17:59952000-59969200	Weak transcription	HUVEC	blood vessel
28	chr17:59952000-59971600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr17:59952800-59981400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:59953200-59972200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:59953800-59985600	Weak transcription	Small Intestine	intestine
32	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr17:59954600-59984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr17:59955200-59979600	Weak transcription	HSMMtube	muscle
35	chr17:59955800-59971600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr17:59956800-59970000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr17:59957600-59973200	Strong transcription	Liver	Liver
38	chr17:59957800-59971600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr17:59958000-59987600	Weak transcription	Esophagus	oesophagus
40	chr17:59959000-59996800	Weak transcription	Gastric	stomach
41	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
42	chr17:59959800-59973000	Weak transcription	Primary B cells from cord blood	blood
43	chr17:59960200-59972000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr17:59960800-59970000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:59962000-59970200	Strong transcription	A549	lung
46	chr17:59962000-59977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr17:59962200-59969000	Weak transcription	Osteobl	bone
48	chr17:59962400-59970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:59962400-59979400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr17:59963400-59970200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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