Variant report

Variant	rs17702702
Chromosome Location	chr1:97607837-97607838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10875049	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10875050	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10875051	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10875053	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs11165791	0.84[ASN][1000 genomes]
rs11165792	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11165793	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11165794	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11165798	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs11165800	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs11165804	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs11165805	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12035468	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12041436	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12091136	0.86[ASN][1000 genomes]
rs12120077	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12124552	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12134860	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12740796	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs12759852	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs1514495	0.80[JPT][hapmap]
rs1514497	0.80[JPT][hapmap]
rs17116479	0.80[JPT][hapmap]
rs1760210	0.86[ASN][1000 genomes]
rs2039449	0.80[JPT][hapmap]
rs4309030	0.84[ASN][1000 genomes]
rs4390222	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6593634	0.80[JPT][hapmap]
rs6668653	0.86[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6670102	0.81[JPT][hapmap]
rs7520102	0.86[ASN][1000 genomes]
rs8179310	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs828053	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs828057	0.90[ASN][1000 genomes]
rs828059	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs993714	0.94[CHB][hapmap];0.90[JPT][hapmap]

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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97563600-97619200	Weak transcription	Dnd41	blood
2	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:97585600-97621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:97592200-97608800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:97597400-97619600	Weak transcription	Liver	Liver
6	chr1:97603400-97610200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:97604000-97610000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:97604000-97620000	Weak transcription	Pancreas	Pancrea
9	chr1:97604200-97610400	Weak transcription	Fetal Brain Male	brain
10	chr1:97604400-97609200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:97604400-97609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:97604400-97611000	Weak transcription	Stomach Mucosa	stomach
13	chr1:97604400-97614800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:97604400-97629000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:97604600-97608200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:97604600-97608800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:97604600-97608800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:97604600-97609000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:97604600-97609000	Weak transcription	NHLF	lung
20	chr1:97604600-97609400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:97604600-97609400	Weak transcription	A549	lung
22	chr1:97604600-97609400	Weak transcription	HUVEC	blood vessel
23	chr1:97604600-97609600	Weak transcription	HSMMtube	muscle
24	chr1:97604600-97609800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:97604600-97609800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:97604600-97610200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:97604600-97614000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:97604800-97609200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:97605200-97609000	Weak transcription	HSMM	muscle
30	chr1:97605400-97608800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:97605400-97608800	Weak transcription	NHDF-Ad	bronchial
32	chr1:97605400-97609000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:97605600-97608000	Weak transcription	NH-A	brain
34	chr1:97605600-97608800	Weak transcription	Osteobl	bone
35	chr1:97605600-97609000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:97605800-97608600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:97606200-97610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:97606200-97626600	Weak transcription	Ovary	ovary
39	chr1:97606800-97610400	Weak transcription	Primary T cells from cord blood	blood
40	chr1:97606800-97610400	Weak transcription	Aorta	Aorta
41	chr1:97607200-97611000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:97607400-97608000	Enhancers	Brain Substantia Nigra	brain
43	chr1:97607400-97608000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:97607400-97608800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:97607400-97612600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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