Variant report

Variant	rs16927448
Chromosome Location	chr8:62433527-62433528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10093414	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10107557	0.92[CEU][hapmap]
rs10504327	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504328	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504329	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13256758	0.86[JPT][hapmap]
rs13270887	0.85[JPT][hapmap]
rs16927347	0.92[CEU][hapmap]
rs16927446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16927460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16927536	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16927566	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17200413	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17200553	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17200623	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17201182	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17201219	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17788825	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs17788873	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs17789341	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17790020	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17790471	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17790639	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279573	0.88[JPT][hapmap]
rs2445	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2610520	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2640232	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2640237	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4487757	0.92[CEU][hapmap]
rs4507756	0.81[EUR][1000 genomes]
rs59333700	0.88[ASN][1000 genomes]
rs61252075	0.81[ASN][1000 genomes]
rs73263176	0.88[ASN][1000 genomes]
rs7830314	0.85[CEU][hapmap]
rs7839684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:62412000-62455600	Strong transcription	A549	lung
4	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
6	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
7	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
8	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
9	chr8:62415600-62437200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:62416000-62441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:62417000-62454000	Weak transcription	NHEK	skin
12	chr8:62420200-62438600	Strong transcription	NHDF-Ad	bronchial
13	chr8:62420400-62436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:62420800-62439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
16	chr8:62421400-62452600	Weak transcription	Brain Germinal Matrix	brain
17	chr8:62422600-62440200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
20	chr8:62425000-62437200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr8:62425800-62452600	Weak transcription	Primary T cells from cord blood	blood
22	chr8:62426600-62439000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:62426800-62438600	Strong transcription	Adipose Nuclei	Adipose
24	chr8:62427000-62468600	Weak transcription	Fetal Thymus	thymus
25	chr8:62427800-62434600	Strong transcription	HSMM	muscle
26	chr8:62428000-62458600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:62428000-62463800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:62428600-62437600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:62428600-62444800	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:62428600-62451600	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:62428800-62434200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:62429000-62452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:62429600-62463000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:62429800-62435600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:62430000-62437400	Weak transcription	HMEC	breast
36	chr8:62430000-62464400	Weak transcription	Brain Anterior Caudate	brain
37	chr8:62430000-62467200	Weak transcription	Right Ventricle	heart
38	chr8:62430200-62435800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:62430200-62438600	Weak transcription	Fetal Intestine Large	intestine
40	chr8:62430200-62439800	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:62430200-62440600	Weak transcription	HSMMtube	muscle
42	chr8:62430400-62440200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:62430400-62449000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:62430400-62449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:62430400-62449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:62430400-62487400	Weak transcription	Colonic Mucosa	Colon
47	chr8:62430600-62440000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:62430600-62442800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:62430600-62447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:62430600-62454200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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