Variant report

Variant	rs2279160
Chromosome Location	chr8:114444828-114444829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:114435797..114438781-chr8:114443874..114445936,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-67H2.1.1-4	chr8:114444770-114445524	NONHSAT128347

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10108963	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs1055168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955657	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1478679	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1513516	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1513520	0.91[CHB][hapmap]
rs1513527	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1533274	0.82[JPT][hapmap]
rs1551958	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884651	0.82[JPT][hapmap]
rs16884657	0.81[ASN][1000 genomes]
rs16884662	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs16884689	0.82[JPT][hapmap]
rs1949225	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1993895	0.80[ASN][1000 genomes]
rs2127057	0.82[JPT][hapmap]
rs2927867	0.92[CHB][hapmap];0.97[YRI][hapmap]
rs2927875	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2942849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2942854	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2954885	0.84[EUR][1000 genomes]
rs2954900	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4565485	0.84[EUR][1000 genomes]
rs6469456	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982808	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs6993017	0.96[CEU][hapmap]
rs7828293	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7831926	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs899299	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938248	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
3	chr8:114444000-114445000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:114444000-114445400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:114444000-114445800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr8:114444000-114446800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:114444200-114445000	Flanking Active TSS	Brain Angular Gyrus	brain
8	chr8:114444200-114445200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:114444200-114445800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:114444200-114446000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr8:114444200-114446200	Bivalent Enhancer	Fetal Heart	heart
12	chr8:114444200-114446200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
13	chr8:114444200-114446400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr8:114444200-114446400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
15	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:114444400-114445000	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr8:114444400-114445000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:114444400-114445200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chr8:114444400-114445200	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr8:114444400-114445200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
27	chr8:114444400-114445400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:114444400-114445600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:114444400-114445800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:114444400-114445800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:114444400-114446000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:114444400-114446000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr8:114444400-114446000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr8:114444400-114446200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr8:114444400-114446400	Bivalent Enhancer	Liver	Liver
36	chr8:114444400-114446400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
37	chr8:114444400-114446600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr8:114444400-114450200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
40	chr8:114444600-114445000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
41	chr8:114444600-114445000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr8:114444600-114445000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
43	chr8:114444600-114445000	Flanking Active TSS	Right Atrium	heart
44	chr8:114444600-114445000	Enhancers	Right Ventricle	heart
45	chr8:114444600-114445200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:114444600-114445200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr8:114444600-114445200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:114444600-114445200	Bivalent Enhancer	Lung	lung
49	chr8:114444600-114445200	Flanking Active TSS	Pancreas	Pancrea
50	chr8:114444600-114445400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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