Variant report

Variant	rs12048208
Chromosome Location	chr1:63055280-63055281
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10158897	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs10159255	0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10458569	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs10493322	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10789112	0.82[ASN][1000 genomes]
rs10789113	0.89[ASN][1000 genomes]
rs10789118	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10789119	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10789120	0.89[ASN][1000 genomes]
rs10889333	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs10889334	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10889335	0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs10889338	0.86[ASN][1000 genomes]
rs10889342	0.83[ASN][1000 genomes]
rs10889348	0.86[ASN][1000 genomes]
rs10889352	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10889353	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10889354	0.80[ASN][1000 genomes]
rs11207977	0.86[ASN][1000 genomes]
rs11207980	0.89[ASN][1000 genomes]
rs11207982	0.89[ASN][1000 genomes]
rs11207992	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11207995	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11207996	0.91[ASN][1000 genomes]
rs11207998	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11208004	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11485618	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1168086	0.86[JPT][hapmap]
rs1168114	0.82[CHD][hapmap]
rs12024419	0.82[CHB][hapmap]
rs12025714	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12027778	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12030293	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038768	0.91[ASN][1000 genomes]
rs12039115	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12041843	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12042319	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12043877	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12043910	0.88[EUR][1000 genomes]
rs12047226	0.89[ASN][1000 genomes]
rs12116574	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12136083	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12239736	0.86[ASN][1000 genomes]
rs1570694	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1748197	0.81[ASN][1000 genomes]
rs1748199	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs1979722	0.89[CHD][hapmap]
rs2029763	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2366636	0.81[ASN][1000 genomes]
rs34152715	0.91[ASN][1000 genomes]
rs3850634	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3913007	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4350231	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4495740	0.80[ASN][1000 genomes]
rs4587594	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs56115463	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61775910	0.84[ASN][1000 genomes]
rs880694	0.83[CHD][hapmap]
rs995000	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs998403	0.85[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1011203	chr1:63047046-63081879	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62939800-63060200	Weak transcription	Small Intestine	intestine
2	chr1:62958200-63061000	Weak transcription	Lung	lung
3	chr1:63007200-63056200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
5	chr1:63010800-63078400	Weak transcription	A549	lung
6	chr1:63017800-63057600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:63021600-63058800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:63021600-63061400	Weak transcription	Pancreas	Pancrea
9	chr1:63036800-63058600	Weak transcription	Fetal Brain Female	brain
10	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:63038400-63087600	Weak transcription	NHEK	skin
12	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:63038600-63083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:63039000-63063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:63039200-63095200	Weak transcription	Ovary	ovary
16	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach
18	chr1:63041400-63059000	Weak transcription	Aorta	Aorta
19	chr1:63042200-63083600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:63042400-63056200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:63043400-63056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:63044000-63056000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:63044000-63076000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:63047600-63077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:63050600-63083800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:63051000-63066400	Weak transcription	NHLF	lung
27	chr1:63051400-63059400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:63051400-63062800	Weak transcription	Psoas Muscle	Psoas
29	chr1:63051800-63055600	Weak transcription	Placenta	Placenta
30	chr1:63051800-63057600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:63051800-63075800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:63051800-63077000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:63051800-63083400	Weak transcription	Fetal Lung	lung
34	chr1:63051800-63096000	Weak transcription	Left Ventricle	heart
35	chr1:63052000-63062200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:63052400-63055800	Weak transcription	HepG2	liver
37	chr1:63052400-63062400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:63052400-63083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:63052600-63058200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:63052600-63059400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:63052600-63077200	Weak transcription	HSMM	muscle
42	chr1:63052600-63084400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:63052800-63056000	Weak transcription	Liver	Liver
44	chr1:63052800-63059600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:63052800-63062400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:63052800-63067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:63053000-63056400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:63053000-63068000	Weak transcription	NHDF-Ad	bronchial
49	chr1:63053200-63056400	Enhancers	Osteobl	bone
50	chr1:63053400-63055800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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