Variant report

Variant	rs12707614
Chromosome Location	chr7:83738345-83738346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10488267	0.89[AMR][1000 genomes]
rs10488268	0.85[AMR][1000 genomes]
rs1156053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156054	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11971623	0.84[AMR][1000 genomes]
rs11972281	0.82[AMR][1000 genomes]
rs11976014	0.84[AMR][1000 genomes]
rs11976558	0.84[AMR][1000 genomes]
rs12707612	0.85[AMR][1000 genomes]
rs12707613	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12707618	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12707620	0.87[AMR][1000 genomes]
rs13224288	0.89[AMR][1000 genomes]
rs13226948	0.86[AMR][1000 genomes]
rs13228082	0.84[AMR][1000 genomes]
rs13228833	0.83[AMR][1000 genomes]
rs13233962	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13236641	0.85[AMR][1000 genomes]
rs13241906	0.83[AMR][1000 genomes]
rs17232537	0.82[AMR][1000 genomes]
rs17232705	0.81[AMR][1000 genomes]
rs17241389	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17241955	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17298417	0.82[AMR][1000 genomes]
rs17300760	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1859491	0.85[AMR][1000 genomes]
rs1990043	0.89[AMR][1000 genomes]
rs1990044	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1990045	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2040871	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2301891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372030	0.85[AMR][1000 genomes]
rs2372031	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2372032	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2372035	0.89[EUR][1000 genomes]
rs2888221	0.89[AMR][1000 genomes]
rs3029	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34665905	0.89[AMR][1000 genomes]
rs35824530	0.83[AMR][1000 genomes]
rs3757624	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779443	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779444	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801622	0.84[AMR][1000 genomes]
rs3801629	0.89[AMR][1000 genomes]
rs3801630	0.89[AMR][1000 genomes]
rs3801632	0.89[AMR][1000 genomes]
rs3801633	0.89[AMR][1000 genomes]
rs3801634	0.92[AMR][1000 genomes]
rs3801636	0.92[AMR][1000 genomes]
rs3801637	0.92[AMR][1000 genomes]
rs3801641	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801642	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801643	0.90[AMR][1000 genomes]
rs3801644	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801645	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801650	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4732540	0.85[AMR][1000 genomes]
rs4732541	0.89[AMR][1000 genomes]
rs4732544	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55679601	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55740798	0.84[AMR][1000 genomes]
rs62477298	0.84[AMR][1000 genomes]
rs62477300	0.80[AMR][1000 genomes]
rs6957333	0.82[AMR][1000 genomes]
rs6970168	0.86[AMR][1000 genomes]
rs723997	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs727650	0.85[AMR][1000 genomes]
rs727651	0.85[AMR][1000 genomes]
rs757682	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs764116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780843	0.82[AMR][1000 genomes]
rs7784963	0.86[AMR][1000 genomes]
rs7789342	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7808725	0.89[AMR][1000 genomes]
rs7808859	0.89[AMR][1000 genomes]
rs917089	0.88[AMR][1000 genomes]
rs917090	0.89[AMR][1000 genomes]
rs917091	0.85[AMR][1000 genomes]
rs933340	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs995866	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83722200-83738400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:83729400-83740000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:83730800-83739600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83732600-83739400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:83734800-83739000	Weak transcription	Brain Germinal Matrix	brain
7	chr7:83734800-83739400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:83734800-83741800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:83735200-83742200	Weak transcription	Fetal Stomach	stomach
10	chr7:83735400-83741800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:83735600-83739000	Weak transcription	NHDF-Ad	bronchial
12	chr7:83735600-83739400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:83735600-83740800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:83735600-83742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:83735600-83742200	Weak transcription	NHLF	lung
16	chr7:83735600-83742800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:83735600-83742800	Weak transcription	Fetal Kidney	kidney
18	chr7:83735600-83746600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:83735800-83742400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:83736200-83738400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:83736400-83744200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:83736600-83739600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:83736800-83738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:83736800-83739800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:83736800-83743000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:83737000-83741400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:83737000-83742200	Weak transcription	Psoas Muscle	Psoas
28	chr7:83737400-83738400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:83737400-83739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:83737400-83739600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:83737600-83738600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:83737600-83739400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:83737600-83741200	Weak transcription	Adipose Nuclei	Adipose
34	chr7:83737800-83738800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:83737800-83740600	Weak transcription	Fetal Lung	lung
36	chr7:83738000-83738800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:83738000-83739000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:83738000-83739200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:83738000-83739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:83738000-83739400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:83738000-83739400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:83738000-83740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:83738200-83741200	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:83738200-83746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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