Variant report

Variant	rs10863248
Chromosome Location	chr1:216704740-216704741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10495026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11117609	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11117610	0.81[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs11117611	0.85[ASN][1000 genomes]
rs11572810	0.88[ASN][1000 genomes]
rs11572811	0.83[JPT][hapmap]
rs12089635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12117030	0.81[CHB][hapmap]
rs12117150	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118884	0.81[CHB][hapmap]
rs12125859	0.81[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs12128944	0.81[JPT][hapmap]
rs12144650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12757147	0.81[CHB][hapmap]
rs1498285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1498286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1846224	0.81[CHB][hapmap]
rs1846226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2101981	0.81[CHB][hapmap]
rs4420152	0.82[JPT][hapmap]
rs6604629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6604630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6604631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6604632	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6678548	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6679193	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6679623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6680913	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6683007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6683442	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695067	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7543237	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216692600-216705200	Weak transcription	Placenta	Placenta
2	chr1:216701200-216704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216704200-216705200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:216704200-216705400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:216704200-216705600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:216704200-216705600	Active TSS	NHDF-Ad	bronchial
7	chr1:216704200-216706200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:216704400-216704800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:216704400-216704800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:216704400-216704800	Flanking Active TSS	Fetal Kidney	kidney
11	chr1:216704400-216704800	Flanking Active TSS	GM12878-XiMat	blood
12	chr1:216704400-216705200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:216704400-216705200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:216704400-216705200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:216704400-216705200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:216704400-216705400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:216704400-216705400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:216704400-216705400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:216704400-216705400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:216704400-216705400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:216704400-216705400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:216704400-216705400	Active TSS	Fetal Stomach	stomach
23	chr1:216704400-216705400	Active TSS	Ovary	ovary
24	chr1:216704400-216705400	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:216704400-216705400	Active TSS	Stomach Mucosa	stomach
26	chr1:216704400-216705400	Active TSS	A549	lung
27	chr1:216704400-216705400	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:216704400-216705400	Active TSS	NHEK	skin
29	chr1:216704400-216705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:216704400-216705600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:216704400-216705600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:216704400-216705600	Active TSS	Duodenum Mucosa	Duodenum
33	chr1:216704400-216705600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:216704400-216705600	Active TSS	Right Atrium	heart
35	chr1:216704400-216705600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:216704400-216705600	Active TSS	Stomach Smooth Muscle	stomach
37	chr1:216704400-216705600	Active TSS	Osteobl	bone
38	chr1:216704400-216705800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr1:216704400-216705800	Active TSS	Psoas Muscle	Psoas
40	chr1:216704400-216705800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:216704400-216706000	Active TSS	Brain Angular Gyrus	brain
42	chr1:216704400-216706000	Active TSS	Brain Anterior Caudate	brain
43	chr1:216704400-216706000	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:216704600-216704800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:216704600-216704800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr1:216704600-216704800	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr1:216704600-216705000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr1:216704600-216705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr1:216704600-216705000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:216704600-216705000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain

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