Variant report

Variant	rs72499551
Chromosome Location	chr7:121742363-121742364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10488107	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1147489	0.90[ASN][1000 genomes]
rs1147498	0.80[ASN][1000 genomes]
rs11977512	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12113399	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530583	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538079	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17616983	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2109333	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2268077	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300199	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727938	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57341517	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59110694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59224714	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59529453	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59993706	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60159595	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61624073	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6948443	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6952698	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6954944	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73224332	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73224336	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73224339	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73226257	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73226277	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73226300	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7784030	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7810763	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121715400-121752000	Weak transcription	NH-A	brain
4	chr7:121716000-121772000	Weak transcription	Osteobl	bone
5	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:121717600-121743200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:121717800-121744400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:121718000-121746800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:121718000-121754200	Weak transcription	Placenta	Placenta
11	chr7:121718000-121754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:121718000-121754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
14	chr7:121718200-121755000	Weak transcription	NHDF-Ad	bronchial
15	chr7:121719200-121751800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:121719400-121743200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:121719400-121747400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:121719800-121743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:121719800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:121722000-121755000	Weak transcription	HUVEC	blood vessel
21	chr7:121723400-121743000	Weak transcription	Fetal Heart	heart
22	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
23	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
25	chr7:121726200-121743200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:121726200-121744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:121726400-121743200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:121730000-121744400	Weak transcription	Lung	lung
29	chr7:121730400-121749400	Weak transcription	Fetal Kidney	kidney
30	chr7:121730400-121754600	Weak transcription	Aorta	Aorta
31	chr7:121730600-121742600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr7:121731800-121742400	Weak transcription	Right Ventricle	heart
33	chr7:121731800-121743200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:121731800-121743400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:121731800-121744400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr7:121731800-121744800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:121731800-121753600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr7:121733600-121742400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:121733800-121742400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:121734000-121749400	Weak transcription	NHEK	skin
43	chr7:121736200-121742800	Strong transcription	Liver	Liver
44	chr7:121737800-121742600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:121738000-121742400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:121739000-121742600	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr7:121739800-121760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:121740000-121742400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:121740000-121742600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:121740000-121742600	Strong transcription	Left Ventricle	heart

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