Variant report

Variant	rs3801643
Chromosome Location	chr7:83741763-83741764
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10488267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10488268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1156053	0.90[AMR][1000 genomes]
rs1156054	0.85[AMR][1000 genomes]
rs11971623	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11972281	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11974629	0.81[ASN][1000 genomes]
rs11976014	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11976072	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11976558	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11977682	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12707611	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12707612	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12707613	0.85[AMR][1000 genomes]
rs12707614	0.90[AMR][1000 genomes]
rs12707618	0.85[AMR][1000 genomes]
rs12707620	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13223338	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13224288	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13226948	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13228082	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13228833	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13233499	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13233962	0.86[AMR][1000 genomes]
rs13236641	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13241906	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1524880	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1524881	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17232537	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17232705	0.96[CEU][hapmap];0.96[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17242340	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs17298417	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17300760	0.81[AMR][1000 genomes]
rs1859491	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990043	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1990044	0.85[AMR][1000 genomes]
rs1990045	0.88[AMR][1000 genomes]
rs2040871	0.85[AMR][1000 genomes]
rs2040876	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2040877	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2057844	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2057845	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2057846	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301891	0.90[AMR][1000 genomes]
rs2372030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2372031	0.84[AMR][1000 genomes]
rs2372032	0.85[AMR][1000 genomes]
rs2888221	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3029	0.81[AMR][1000 genomes]
rs34132658	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34197283	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34197825	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34614886	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34665905	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34934460	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35211989	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35573285	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35638242	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35824530	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36064207	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757624	0.81[AMR][1000 genomes]
rs3779443	0.85[AMR][1000 genomes]
rs3779444	0.85[AMR][1000 genomes]
rs3801611	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3801612	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3801615	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3801616	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3801617	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3801622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801632	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801633	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801636	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3801637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801641	0.85[AMR][1000 genomes]
rs3801642	0.85[AMR][1000 genomes]
rs3801644	0.85[AMR][1000 genomes]
rs3801645	0.85[AMR][1000 genomes]
rs3801649	0.90[AMR][1000 genomes]
rs3801650	0.88[AMR][1000 genomes]
rs3823911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs41441447	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4732537	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4732538	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4732539	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4732540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4732541	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4732544	0.84[AMR][1000 genomes]
rs55740798	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62477260	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62477284	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62477289	0.83[EUR][1000 genomes]
rs62477290	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62477294	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62477298	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62477300	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6467981	0.84[EUR][1000 genomes]
rs6467982	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467983	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467984	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6467985	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67782928	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6946868	0.89[CEU][hapmap]
rs6957333	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6960973	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6965990	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6970168	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6974271	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs727650	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs727651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs757682	0.85[AMR][1000 genomes]
rs764116	0.90[AMR][1000 genomes]
rs764117	0.90[AMR][1000 genomes]
rs7780843	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784963	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7785176	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7787984	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7789342	0.81[AMR][1000 genomes]
rs7801091	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7801235	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7804363	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806871	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7808725	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808859	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs917089	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs917090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs917091	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs933340	0.82[AMR][1000 genomes]
rs995866	0.85[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83734800-83741800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:83735200-83742200	Weak transcription	Fetal Stomach	stomach
4	chr7:83735400-83741800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:83735600-83742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:83735600-83742200	Weak transcription	NHLF	lung
7	chr7:83735600-83742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:83735600-83742800	Weak transcription	Fetal Kidney	kidney
9	chr7:83735600-83746600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:83735800-83742400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:83736400-83744200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:83736800-83743000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:83737000-83742200	Weak transcription	Psoas Muscle	Psoas
14	chr7:83738200-83746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:83739000-83743400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:83739200-83743000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:83739200-83743000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:83739400-83744600	Enhancers	Fetal Heart	heart
19	chr7:83739800-83742400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:83739800-83743400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:83740000-83742200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:83740000-83742200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:83740000-83742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:83740000-83742200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:83740000-83742400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:83740000-83742400	Weak transcription	Brain Substantia Nigra	brain
27	chr7:83740000-83743000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:83740000-83743600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:83740000-83744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:83740200-83742000	Weak transcription	NHDF-Ad	bronchial
31	chr7:83740200-83742200	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:83740600-83742400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:83740600-83744600	Enhancers	Fetal Lung	lung
34	chr7:83740800-83742200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:83740800-83742200	Weak transcription	Fetal Brain Female	brain
36	chr7:83740800-83742400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:83741200-83744000	Enhancers	Adipose Nuclei	Adipose
38	chr7:83741200-83744000	Enhancers	Colon Smooth Muscle	Colon
39	chr7:83741400-83741800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:83741400-83742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:83741400-83742200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:83741600-83742000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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