Variant report

Variant	rs4758664
Chromosome Location	chr12:122903148-122903149
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122902497..122904051-chr12:122964826..122966588,2	MCF-7	breast:
2	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
3	chr12:122902575..122904900-chr12:122907634..122909136,2	MCF-7	breast:
4	chr12:122902285..122904972-chr12:122905751..122909798,4	K562	blood:
5	chr12:122902598..122904483-chr12:122905269..122908349,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction
ENSG00000257097	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10161184	0.82[EUR][1000 genomes]
rs10161488	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744218	0.90[EUR][1000 genomes]
rs10773090	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10773108	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10773117	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10773162	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846714	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846871	0.96[ASN][1000 genomes]
rs10846899	0.84[ASN][1000 genomes]
rs10846912	0.90[EUR][1000 genomes]
rs11057514	0.80[EUR][1000 genomes]
rs11057686	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11057813	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11057819	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11058272	0.88[EUR][1000 genomes]
rs1129167	0.82[EUR][1000 genomes]
rs11503023	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11830957	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12314537	0.90[EUR][1000 genomes]
rs12812332	0.91[EUR][1000 genomes]
rs12818177	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12819355	0.84[ASN][1000 genomes]
rs12828876	0.82[EUR][1000 genomes]
rs12829449	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1392142	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532579	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1553178	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2341438	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825096	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4758665	0.80[EUR][1000 genomes]
rs4758693	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758695	0.85[ASN][1000 genomes]
rs61021925	0.85[EUR][1000 genomes]
rs6488947	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305360	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313121	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7313284	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953204	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955241	0.84[ASN][1000 genomes]
rs7959550	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961258	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7964981	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7970007	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7972832	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7973480	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7974160	0.81[EUR][1000 genomes]
rs7975492	0.81[EUR][1000 genomes]
rs7978119	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978636	0.81[EUR][1000 genomes]
rs9788228	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:122863800-122905000	Weak transcription	Dnd41	blood
3	chr12:122884600-122905200	Weak transcription	Colonic Mucosa	Colon
4	chr12:122885200-122904600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:122885200-122905200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:122885200-122905400	Weak transcription	Fetal Thymus	thymus
7	chr12:122885200-122905400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:122885200-122906000	Weak transcription	Ovary	ovary
9	chr12:122885400-122905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:122885600-122905400	Weak transcription	NH-A	brain
11	chr12:122886200-122905400	Weak transcription	Right Ventricle	heart
12	chr12:122887200-122906200	Weak transcription	Lung	lung
13	chr12:122887600-122904800	Weak transcription	HMEC	breast
14	chr12:122888800-122905000	Weak transcription	Esophagus	oesophagus
15	chr12:122889000-122904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:122889000-122905000	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:122890000-122905000	Weak transcription	Primary T cells from cord blood	blood
18	chr12:122891000-122905200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:122892200-122904000	Weak transcription	HSMMtube	muscle
20	chr12:122892200-122904800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:122892600-122905000	Weak transcription	Fetal Intestine Large	intestine
22	chr12:122895200-122905200	Weak transcription	Fetal Heart	heart
23	chr12:122896200-122904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:122896200-122905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:122896400-122905600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:122897200-122903200	Weak transcription	Left Ventricle	heart
27	chr12:122897200-122905000	Weak transcription	Spleen	Spleen
28	chr12:122898000-122904800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:122898000-122905000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:122898000-122905400	Weak transcription	Fetal Kidney	kidney
31	chr12:122898200-122905000	Weak transcription	Brain Substantia Nigra	brain
32	chr12:122898200-122905000	Weak transcription	Stomach Mucosa	stomach
33	chr12:122898200-122905000	Weak transcription	NHDF-Ad	bronchial
34	chr12:122898200-122905200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:122898200-122905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:122898400-122903200	Weak transcription	K562	blood
37	chr12:122898400-122904800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:122898600-122904400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:122898600-122904600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:122898600-122904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:122898600-122904800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:122898600-122904800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:122898600-122905000	Weak transcription	Adipose Nuclei	Adipose
44	chr12:122898600-122905000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:122898600-122905000	Weak transcription	Fetal Brain Female	brain
46	chr12:122898600-122905400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:122898800-122904800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:122898800-122904800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:122898800-122905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:122898800-122905000	Weak transcription	Fetal Brain Male	brain

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