Variant report

Variant	rs9310139
Chromosome Location	chr3:69217344-69217345
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11128118	0.85[GIH][hapmap]
rs12172924	0.80[ASN][1000 genomes]
rs12494541	0.99[ASN][1000 genomes]
rs12637416	0.92[CHD][hapmap];0.93[GIH][hapmap];0.85[ASN][1000 genomes]
rs13059488	0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs13059687	0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs4282065	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358306	0.88[ASN][1000 genomes]
rs4359814	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4428184	1.00[EUR][1000 genomes]
rs4450819	0.80[ASN][1000 genomes]
rs4464459	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4473559	0.93[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4541413	0.93[GIH][hapmap]
rs4624565	0.80[ASN][1000 genomes]
rs58110267	0.84[AMR][1000 genomes]
rs67268350	0.87[ASN][1000 genomes]
rs6763046	0.89[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6765197	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6765309	0.85[ASN][1000 genomes]
rs6789821	0.84[AMR][1000 genomes]
rs6806271	1.00[EUR][1000 genomes]
rs6808756	0.87[EUR][1000 genomes]
rs72928304	1.00[EUR][1000 genomes]
rs72928308	1.00[EUR][1000 genomes]
rs7609655	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635306	0.84[AMR][1000 genomes]
rs9310138	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9310140	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9831516	0.93[GIH][hapmap];0.81[JPT][hapmap];0.89[MKK][hapmap]
rs9833167	0.80[ASN][1000 genomes]
rs9836305	0.93[GIH][hapmap];0.81[JPT][hapmap];0.89[MKK][hapmap]
rs9847983	0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs9853232	1.00[EUR][1000 genomes]
rs9853318	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9860235	0.80[ASN][1000 genomes]
rs9872199	0.93[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.81[ASN][1000 genomes]
rs9872489	0.97[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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69209600-69228000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:69211200-69218800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:69211200-69219600	Weak transcription	Fetal Lung	lung
4	chr3:69211200-69219800	Weak transcription	Fetal Brain Female	brain
5	chr3:69211200-69219800	Weak transcription	Dnd41	blood
6	chr3:69211200-69226600	Weak transcription	Fetal Kidney	kidney
7	chr3:69211200-69229400	Weak transcription	Fetal Brain Male	brain
8	chr3:69211600-69220200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:69211600-69220200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:69211600-69223400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:69211600-69230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:69211600-69231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:69212200-69219800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:69213400-69225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:69214000-69218600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:69214200-69219800	Weak transcription	Placenta	Placenta
17	chr3:69214200-69226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:69214800-69230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:69215000-69220200	Weak transcription	Brain Anterior Caudate	brain
20	chr3:69215000-69220200	Weak transcription	Fetal Intestine Large	intestine
21	chr3:69215200-69220000	Weak transcription	Brain Germinal Matrix	brain
22	chr3:69215200-69220200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:69215200-69225400	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:69215400-69218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:69215600-69219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:69215600-69225200	Weak transcription	Fetal Intestine Small	intestine
27	chr3:69215800-69220600	Weak transcription	Right Ventricle	heart
28	chr3:69216000-69220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:69216000-69220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:69216000-69220400	Weak transcription	HMEC	breast
31	chr3:69216000-69225400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:69216000-69227200	Weak transcription	Pancreas	Pancrea
33	chr3:69216200-69220600	Weak transcription	Aorta	Aorta
34	chr3:69216200-69221000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:69216200-69229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:69216400-69217600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:69216400-69217800	Strong transcription	NHEK	skin
38	chr3:69216400-69218200	Weak transcription	HUVEC	blood vessel
39	chr3:69216600-69217800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:69216800-69218200	Weak transcription	Liver	Liver
41	chr3:69216800-69218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:69217000-69218600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr3:69217000-69219800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:69217000-69219800	Weak transcription	HSMM	muscle
45	chr3:69217000-69220400	Weak transcription	Thymus	Thymus
46	chr3:69217200-69220200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:69217200-69225400	Weak transcription	Esophagus	oesophagus
48	chr3:69217200-69225400	Weak transcription	Fetal Stomach	stomach
49	chr3:69217200-69230200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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