Variant report

Variant	rs2372032
Chromosome Location	chr7:83742490-83742491
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10488267	0.84[AMR][1000 genomes]
rs10488268	0.96[MEX][hapmap];0.88[AMR][1000 genomes]
rs1156053	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1156054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977682	0.82[AMR][1000 genomes]
rs12707612	0.88[AMR][1000 genomes]
rs12707613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707614	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12707618	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12707620	0.83[AMR][1000 genomes]
rs13224288	0.84[AMR][1000 genomes]
rs13226948	0.82[AMR][1000 genomes]
rs13228082	0.84[MEX][hapmap]
rs13228833	0.87[MEX][hapmap]
rs13233962	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13236641	0.88[AMR][1000 genomes]
rs17232705	0.84[AMR][1000 genomes]
rs17241389	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17241955	0.80[CEU][hapmap];0.90[CHB][hapmap];0.89[EUR][1000 genomes]
rs17298417	0.96[MEX][hapmap];0.85[AMR][1000 genomes]
rs17300760	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1859491	0.88[AMR][1000 genomes]
rs1990043	0.84[AMR][1000 genomes]
rs1990044	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990045	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2040871	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2057845	0.91[MEX][hapmap]
rs2301891	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2372030	0.88[AMR][1000 genomes]
rs2372031	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372035	0.89[EUR][1000 genomes]
rs2888221	0.84[AMR][1000 genomes]
rs3029	1.00[CEU][hapmap];0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34665905	0.84[AMR][1000 genomes]
rs3757624	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3779443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801616	0.84[MEX][hapmap]
rs3801622	0.87[AMR][1000 genomes]
rs3801629	0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs3801630	0.84[AMR][1000 genomes]
rs3801632	0.84[AMR][1000 genomes]
rs3801633	0.84[AMR][1000 genomes]
rs3801634	0.87[AMR][1000 genomes]
rs3801636	0.87[AMR][1000 genomes]
rs3801637	0.87[AMR][1000 genomes]
rs3801641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801643	0.85[AMR][1000 genomes]
rs3801644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3823911	0.92[MEX][hapmap]
rs41441447	0.84[MEX][hapmap]
rs4732540	0.88[AMR][1000 genomes]
rs4732541	0.84[AMR][1000 genomes]
rs4732544	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55679601	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62477300	0.84[AMR][1000 genomes]
rs6965990	0.83[MEX][hapmap]
rs6970168	0.82[AMR][1000 genomes]
rs723997	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs727650	0.96[MEX][hapmap];0.88[AMR][1000 genomes]
rs727651	0.96[MEX][hapmap];0.88[AMR][1000 genomes]
rs757682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764116	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs764117	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7784963	0.82[AMR][1000 genomes]
rs7789342	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7804363	0.84[MEX][hapmap]
rs7806871	0.92[MEX][hapmap];0.83[AMR][1000 genomes]
rs7808725	0.84[AMR][1000 genomes]
rs7808859	0.84[AMR][1000 genomes]
rs917089	0.83[MEX][hapmap];0.83[AMR][1000 genomes]
rs917090	0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs917091	0.88[AMR][1000 genomes]
rs933340	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs995866	0.85[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.89[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83735600-83742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:83735600-83742800	Weak transcription	Fetal Kidney	kidney
4	chr7:83735600-83746600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:83736400-83744200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:83736800-83743000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:83738200-83746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:83739000-83743400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:83739200-83743000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:83739200-83743000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:83739400-83744600	Enhancers	Fetal Heart	heart
12	chr7:83739800-83743400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:83740000-83743000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:83740000-83743600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:83740000-83744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:83740600-83744600	Enhancers	Fetal Lung	lung
17	chr7:83741200-83744000	Enhancers	Adipose Nuclei	Adipose
18	chr7:83741200-83744000	Enhancers	Colon Smooth Muscle	Colon
19	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:83741800-83743800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr7:83741800-83744000	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:83742000-83743200	Enhancers	NHDF-Ad	bronchial
23	chr7:83742000-83743800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:83742000-83744200	Enhancers	NH-A	brain
25	chr7:83742000-83745200	Enhancers	HUVEC	blood vessel
26	chr7:83742200-83742600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:83742200-83742600	Enhancers	A549	lung
28	chr7:83742200-83742800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:83742200-83743000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:83742200-83743000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:83742200-83743000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:83742200-83743000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:83742200-83743000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:83742200-83743000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr7:83742200-83743000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:83742200-83743200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:83742200-83743200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:83742200-83743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:83742200-83743200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:83742200-83743200	Enhancers	Brain Hippocampus Middle	brain
41	chr7:83742200-83743200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:83742200-83743200	Enhancers	Right Ventricle	heart
43	chr7:83742200-83743200	Enhancers	HMEC	breast
44	chr7:83742200-83743400	Enhancers	Osteobl	bone
45	chr7:83742200-83743800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:83742200-83744000	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:83742200-83744000	Enhancers	Fetal Brain Female	brain
48	chr7:83742200-83744400	Enhancers	NHLF	lung
49	chr7:83742200-83745000	Enhancers	Fetal Stomach	stomach
50	chr7:83742400-83743800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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