Variant report

Variant	rs16892826
Chromosome Location	chr8:120598960-120598961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10505369	1.00[ASW][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16892820	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16892856	0.89[AFR][1000 genomes]
rs16892858	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16892860	0.83[EUR][1000 genomes]
rs16892861	0.83[EUR][1000 genomes]
rs16892869	0.83[EUR][1000 genomes]
rs16892873	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16892887	1.00[TSI][hapmap]
rs58611549	0.83[EUR][1000 genomes]
rs60250385	0.83[EUR][1000 genomes]
rs61753743	1.00[EUR][1000 genomes]
rs6469834	1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs6988878	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7813069	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7824058	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7842699	1.00[TSI][hapmap];0.83[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
3	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
6	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
7	chr8:120591600-120600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:120592800-120599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:120593800-120599600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:120593800-120599800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:120593800-120600000	Strong transcription	Liver	Liver
13	chr8:120595200-120599200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:120595600-120601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:120595600-120601400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:120595800-120599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
20	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
21	chr8:120596800-120600200	Enhancers	NHLF	lung
22	chr8:120597400-120599000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:120597400-120599000	Weak transcription	Placenta	Placenta
24	chr8:120597400-120599000	Enhancers	HSMM	muscle
25	chr8:120597600-120599400	Genic enhancers	Brain Substantia Nigra	brain
26	chr8:120597600-120600200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:120597600-120600200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
29	chr8:120597800-120599400	Enhancers	HSMMtube	muscle
30	chr8:120597800-120599600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:120598000-120599400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:120598000-120599800	Enhancers	Brain Hippocampus Middle	brain
33	chr8:120598000-120600000	Genic enhancers	Fetal Lung	lung
34	chr8:120598000-120600200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:120598000-120600200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:120598200-120599200	Enhancers	HMEC	breast
37	chr8:120598200-120599400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:120598200-120599600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:120598200-120600000	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:120598400-120599000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:120598400-120599200	Flanking Active TSS	NH-A	brain
42	chr8:120598400-120599400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr8:120598400-120599400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:120598400-120599400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:120598400-120599600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:120598400-120600000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:120598400-120601800	Genic enhancers	Adipose Nuclei	Adipose
48	chr8:120598600-120599000	Enhancers	Osteobl	bone
49	chr8:120598600-120599800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:120598800-120599200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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