Variant report

Variant	rs58659495
Chromosome Location	chr2:73322168-73322169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73320586..73325143-chr2:73325606..73330308,7	K562	blood:
2	chr2:73313555..73317164-chr2:73319112..73322422,3	K562	blood:
3	chr2:73321656..73324414-chr2:73324555..73326747,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135631	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1046183	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13404068	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56931614	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56992198	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57875548	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs58469852	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58617186	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58649746	0.87[ASN][1000 genomes]
rs59108557	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59802755	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60341789	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61061024	0.88[EUR][1000 genomes]
rs61652727	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62147756	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6716846	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67421457	0.84[AMR][1000 genomes];0.91[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73303000-73328600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:73313200-73327200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:73315600-73330400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73315600-73338000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:73316000-73326600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:73316200-73330400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:73316200-73338400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:73316400-73329000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:73316400-73329200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:73316400-73334400	Weak transcription	Fetal Brain Female	brain
11	chr2:73316400-73335000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:73316600-73322600	Enhancers	Placenta	Placenta
13	chr2:73316600-73323800	Weak transcription	Ovary	ovary
14	chr2:73317600-73323800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:73317600-73327000	Weak transcription	Fetal Stomach	stomach
16	chr2:73317600-73328600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:73318400-73328200	Weak transcription	NHLF	lung
18	chr2:73318400-73331800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:73318600-73334400	Weak transcription	HMEC	breast
20	chr2:73318800-73326400	Weak transcription	NHEK	skin
21	chr2:73319200-73322200	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:73319200-73322200	Enhancers	HUVEC	blood vessel
23	chr2:73319200-73322600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:73319200-73322800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:73319400-73330000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:73319600-73322600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:73319800-73324800	Weak transcription	Osteobl	bone
28	chr2:73320200-73324600	Weak transcription	HSMM	muscle
29	chr2:73320200-73328600	Weak transcription	NH-A	brain
30	chr2:73320200-73328800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:73320200-73329000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:73320200-73332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:73320600-73322400	Enhancers	Psoas Muscle	Psoas
34	chr2:73320600-73323000	Weak transcription	Fetal Intestine Large	intestine
35	chr2:73320600-73328400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:73320600-73329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:73320600-73332800	Weak transcription	Esophagus	oesophagus
38	chr2:73320800-73322600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:73320800-73323200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:73320800-73327000	Enhancers	Spleen	Spleen
41	chr2:73320800-73328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:73320800-73329600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:73320800-73332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:73320800-73334400	Weak transcription	Aorta	Aorta
45	chr2:73321000-73324000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:73321000-73328800	Weak transcription	Lung	lung
47	chr2:73321000-73330200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:73321200-73322400	Enhancers	Gastric	stomach
49	chr2:73321200-73324400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:73321600-73322400	Enhancers	Pancreas	Pancrea

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