Variant report

Variant	rs11144986
Chromosome Location	chr9:79246547-79246548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10521475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.84[MKK][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11144987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11144992	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11144996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17062768	1.00[CEU][hapmap]
rs17062772	1.00[CEU][hapmap]
rs17062775	1.00[CEU][hapmap]
rs17062778	1.00[CEU][hapmap]
rs17062858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1854441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1952460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs499746	1.00[CEU][hapmap]
rs57389265	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs634063	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs637207	1.00[CEU][hapmap]
rs644893	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs7027074	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7028756	0.87[ASN][1000 genomes]
rs7038619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7039310	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs7045505	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7847922	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7859873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.96[LWK][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:79230200-79248200	Weak transcription	Fetal Stomach	stomach
3	chr9:79232800-79261400	Weak transcription	Colonic Mucosa	Colon
4	chr9:79234200-79252200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:79234400-79257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr9:79234400-79259600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:79234600-79249200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:79236000-79249200	Weak transcription	NHDF-Ad	bronchial
9	chr9:79236000-79257000	Weak transcription	Osteobl	bone
10	chr9:79236200-79248800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:79236200-79252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:79236200-79257400	Weak transcription	Adipose Nuclei	Adipose
13	chr9:79236200-79257600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:79236600-79249000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:79238600-79248400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:79238600-79261200	Strong transcription	HSMM	muscle
17	chr9:79239600-79254400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:79240000-79260800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:79240400-79247800	Weak transcription	Small Intestine	intestine
20	chr9:79240600-79246600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr9:79241000-79260800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:79241200-79247400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:79242400-79248800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr9:79243400-79252800	Weak transcription	Primary B cells from cord blood	blood
25	chr9:79243800-79249800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr9:79244000-79250000	Strong transcription	Brain Hippocampus Middle	brain
27	chr9:79244000-79257200	Weak transcription	Fetal Thymus	thymus
28	chr9:79244600-79249200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:79244600-79260200	Strong transcription	HSMMtube	muscle
30	chr9:79245000-79247200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:79245000-79249200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr9:79245000-79252000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:79245400-79249000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:79245600-79246800	Enhancers	Fetal Intestine Small	intestine
35	chr9:79245600-79247200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr9:79245600-79247600	Strong transcription	Brain Angular Gyrus	brain
37	chr9:79245600-79247800	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:79245800-79246600	Enhancers	Duodenum Mucosa	Duodenum
39	chr9:79245800-79246600	Genic enhancers	Fetal Intestine Large	intestine
40	chr9:79245800-79247600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:79245800-79247600	Strong transcription	Colon Smooth Muscle	Colon
42	chr9:79245800-79250000	Strong transcription	Brain Anterior Caudate	brain
43	chr9:79246000-79246600	Flanking Active TSS	K562	blood
44	chr9:79246000-79246800	Enhancers	Fetal Heart	heart
45	chr9:79246000-79247000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr9:79246000-79247200	Strong transcription	Brain Substantia Nigra	brain
47	chr9:79246000-79247400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:79246000-79247600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr9:79246000-79248400	Strong transcription	Aorta	Aorta
50	chr9:79246000-79249200	Enhancers	Stomach Mucosa	stomach

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