Variant report

Variant	rs1415758
Chromosome Location	chr1:94990878-94990879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1023058	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11165143	0.85[ASN][1000 genomes]
rs11165150	0.94[ASN][1000 genomes]
rs12080254	0.85[ASN][1000 genomes]
rs12094329	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12142995	0.83[ASN][1000 genomes]
rs12404710	0.93[ASN][1000 genomes]
rs12750904	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1324214	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3917633	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148045	0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4148046	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.89[ASN][1000 genomes]
rs4148051	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4424519	0.84[ASN][1000 genomes]
rs4579764	0.84[ASN][1000 genomes]
rs6656819	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6660167	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs724829	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7528491	0.85[ASN][1000 genomes]
rs762484	0.90[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
2	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
3	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
5	chr1:94942400-94997200	Weak transcription	Right Ventricle	heart
6	chr1:94946400-94993000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:94952800-94993000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:94952800-94993400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:94956200-95004000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:94958400-94992200	Weak transcription	NHDF-Ad	bronchial
11	chr1:94958400-94993200	Weak transcription	NH-A	brain
12	chr1:94958600-95004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:94965400-94995800	Weak transcription	HSMM	muscle
14	chr1:94965600-95000400	Weak transcription	Small Intestine	intestine
15	chr1:94965600-95006400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:94966200-94993000	Weak transcription	Hela-S3	cervix
17	chr1:94967200-94993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:94969200-94996200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:94969200-95000400	Weak transcription	Colonic Mucosa	Colon
20	chr1:94970200-94993000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:94970400-94993200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:94970400-94996000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:94970400-95003800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:94971000-94993000	Weak transcription	Ovary	ovary
25	chr1:94971000-94996600	Weak transcription	Fetal Stomach	stomach
26	chr1:94971000-94999800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:94971400-94995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:94972200-94992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:94972200-94993200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:94972200-95004400	Weak transcription	A549	lung
31	chr1:94972400-94993000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:94972400-94993200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:94972400-94993200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:94972400-94993400	Weak transcription	Adipose Nuclei	Adipose
35	chr1:94972400-94994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:94972400-94994400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:94972400-94995600	Weak transcription	Left Ventricle	heart
38	chr1:94972400-94995800	Weak transcription	NHEK	skin
39	chr1:94979200-95005000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:94983200-94995200	Weak transcription	Placenta	Placenta
41	chr1:94983400-94996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:94984000-94993000	Weak transcription	HMEC	breast
43	chr1:94984200-94995800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:94984400-94993200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:94984600-94991400	Weak transcription	HepG2	liver
46	chr1:94984800-94995600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:94984800-94995800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:94985000-94995800	Weak transcription	Dnd41	blood
49	chr1:94985200-95001200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:94985600-94994200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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