Variant report

Variant	rs9990215
Chromosome Location	chr3:112074147-112074148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10804500	0.85[CHB][hapmap]
rs1131199	0.81[CEU][hapmap]
rs12106967	0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs1317243	0.95[CHB][hapmap]
rs2895395	0.85[CHB][hapmap]
rs4355254	0.85[CHB][hapmap]
rs57661530	0.92[ASN][1000 genomes]
rs62264124	0.88[ASN][1000 genomes]
rs72952411	0.92[ASN][1000 genomes]
rs7639471	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs7639794	0.90[CHB][hapmap]
rs9834347	0.95[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs9863371	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs9868582	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9990216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112052800-112076200	Weak transcription	Right Ventricle	heart
2	chr3:112053200-112076400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:112054800-112076800	Weak transcription	Lung	lung
4	chr3:112054800-112083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:112055600-112080200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:112055800-112076400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr3:112056600-112076400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:112059600-112075000	Strong transcription	Fetal Thymus	thymus
9	chr3:112061200-112083000	Weak transcription	Colonic Mucosa	Colon
10	chr3:112061400-112076000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr3:112062400-112083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:112062600-112076600	Strong transcription	Primary B cells from cord blood	blood
13	chr3:112062800-112074600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:112063400-112074200	Strong transcription	Brain Germinal Matrix	brain
15	chr3:112064000-112076800	Weak transcription	Left Ventricle	heart
16	chr3:112064200-112074200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:112064200-112076800	Strong transcription	Placenta	Placenta
18	chr3:112064400-112075000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:112064400-112076800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:112064800-112077200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:112065600-112079600	Weak transcription	Fetal Intestine Large	intestine
22	chr3:112066000-112089800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:112066800-112076800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:112066800-112076800	Weak transcription	Ovary	ovary
25	chr3:112066800-112077000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:112067000-112079400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:112067200-112075400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr3:112067200-112076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:112067200-112079800	Weak transcription	Fetal Stomach	stomach
30	chr3:112067200-112080400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:112067400-112076800	Weak transcription	Aorta	Aorta
32	chr3:112068800-112074600	Enhancers	HUVEC	blood vessel
33	chr3:112069200-112076800	Weak transcription	Thymus	Thymus
34	chr3:112069200-112084000	Weak transcription	Fetal Kidney	kidney
35	chr3:112069200-112095400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:112069400-112075400	Strong transcription	GM12878-XiMat	blood
37	chr3:112070200-112086200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:112070600-112080400	Weak transcription	Brain Angular Gyrus	brain
39	chr3:112070600-112080400	Weak transcription	Brain Anterior Caudate	brain
40	chr3:112070600-112086200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:112070600-112088800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:112070800-112079600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:112070800-112084600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:112070800-112090600	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:112071000-112076200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:112071000-112076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:112071000-112077600	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:112071000-112083000	Weak transcription	Brain Substantia Nigra	brain
49	chr3:112071200-112076400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:112071200-112083800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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