Variant report

Variant	rs7600718
Chromosome Location	chr2:73008851-73008852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10204141	0.87[ASN][1000 genomes]
rs11126381	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126384	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11686536	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11693376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476137	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12479094	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12615163	1.00[JPT][hapmap]
rs12994646	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13008515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396107	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1508060	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1508061	0.80[AFR][1000 genomes]
rs1532970	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1876489	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1876490	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2068410	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2135982	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2420882	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35666345	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4597553	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4852891	0.83[CEU][hapmap]
rs6546787	0.83[EUR][1000 genomes]
rs6727086	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6744758	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6758539	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6758802	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7583914	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7586339	0.87[ASN][1000 genomes]
rs970577	1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72985200-73015800	Weak transcription	Ovary	ovary
2	chr2:72989400-73015800	Weak transcription	Placenta	Placenta
3	chr2:72990800-73018400	Weak transcription	Aorta	Aorta
4	chr2:72991200-73015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:72991200-73015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:72991200-73023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:72993600-73009000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:72999800-73022000	Weak transcription	Right Ventricle	heart
9	chr2:73002600-73011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:73002600-73012800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:73005400-73016200	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:73005800-73011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:73005800-73011200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:73005800-73012600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:73005800-73015800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:73005800-73016200	Weak transcription	HSMM	muscle
17	chr2:73006000-73009800	Weak transcription	Small Intestine	intestine
18	chr2:73006400-73011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:73006600-73009000	Enhancers	Hela-S3	cervix
20	chr2:73006600-73009200	Enhancers	Brain Hippocampus Middle	brain
21	chr2:73006800-73009000	Enhancers	Brain Anterior Caudate	brain
22	chr2:73007200-73009200	Enhancers	Adipose Nuclei	Adipose
23	chr2:73007200-73011600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:73007800-73009000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:73008000-73009000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:73008000-73009400	Enhancers	HUVEC	blood vessel
27	chr2:73008000-73014200	Enhancers	Fetal Heart	heart
28	chr2:73008000-73016000	Weak transcription	HMEC	breast
29	chr2:73008400-73009400	Enhancers	Right Atrium	heart
30	chr2:73008400-73011000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:73008400-73012600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:73008600-73009000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:73008600-73009000	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr2:73008600-73009000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:73008600-73009200	Enhancers	Left Ventricle	heart
36	chr2:73008600-73010000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:73008600-73011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:73008600-73013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:73008600-73015600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:73008600-73020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:73008800-73009800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:73008800-73010800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:73008800-73011000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:73008800-73011000	Weak transcription	Fetal Lung	lung
45	chr2:73008800-73013400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:73008800-73015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:73008800-73016200	Weak transcription	Brain Angular Gyrus	brain
48	chr2:73008800-73016200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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