Variant report

Variant	rs10512062
Chromosome Location	chr9:79230575-79230576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1329020	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1425285	0.91[EUR][1000 genomes]
rs1425286	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1536821	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs3174372	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3174373	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs700804	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs700806	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs700808	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs700809	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7028529	0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs7042069	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7046144	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs707741	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap]
rs73650263	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7865889	0.86[TSI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79224600-79239000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:79224600-79244400	Weak transcription	Brain Angular Gyrus	brain
3	chr9:79224800-79239600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:79225200-79239000	Weak transcription	Brain Anterior Caudate	brain
5	chr9:79225200-79239600	Weak transcription	Brain Substantia Nigra	brain
6	chr9:79225400-79233600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr9:79225400-79233600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:79225400-79239200	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:79225400-79244000	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:79225600-79232400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:79225600-79233400	Weak transcription	HSMMtube	muscle
13	chr9:79225800-79232200	Weak transcription	Gastric	stomach
14	chr9:79225800-79232600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:79225800-79234000	Weak transcription	HSMM	muscle
16	chr9:79228000-79234000	Weak transcription	Aorta	Aorta
17	chr9:79228800-79230800	Enhancers	HepG2	liver
18	chr9:79229200-79230600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:79229400-79230600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr9:79229400-79232600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:79229600-79230600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:79229600-79230600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr9:79229800-79230600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:79229800-79230600	Flanking Active TSS	Fetal Lung	lung
25	chr9:79229800-79230600	Enhancers	Osteobl	bone
26	chr9:79229800-79230800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr9:79230000-79230600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr9:79230000-79230600	Enhancers	Primary B cells from peripheral blood	blood
29	chr9:79230000-79230600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr9:79230000-79230600	Enhancers	Liver	Liver
31	chr9:79230000-79230800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:79230200-79230600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr9:79230200-79230600	Enhancers	Primary B cells from cord blood	blood
34	chr9:79230200-79230600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr9:79230200-79230600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr9:79230200-79230600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:79230200-79230600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:79230200-79230600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr9:79230200-79230600	Enhancers	Fetal Thymus	thymus
40	chr9:79230200-79230600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr9:79230200-79230600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr9:79230200-79230600	Enhancers	Thymus	Thymus
43	chr9:79230200-79230600	Active TSS	GM12878-XiMat	blood
44	chr9:79230200-79231000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:79230200-79248200	Weak transcription	Fetal Stomach	stomach
46	chr9:79230400-79230600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:79230400-79230600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr9:79230400-79230600	Flanking Bivalent TSS/Enh	K562	blood
49	chr9:79230400-79230800	Weak transcription	Pancreas	Pancrea
50	chr9:79230400-79232600	Weak transcription	Right Atrium	heart

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