Variant report

Variant	rs995866
Chromosome Location	chr7:83745039-83745040
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83743073..83745524-chr7:83752305..83754687,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10488267	0.85[AMR][1000 genomes]
rs10488268	0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs1156053	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1156054	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12707612	0.81[AMR][1000 genomes]
rs12707613	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12707614	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12707618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707620	0.88[AMR][1000 genomes]
rs13224288	0.85[AMR][1000 genomes]
rs13226948	0.82[AMR][1000 genomes]
rs13228082	0.87[MEX][hapmap]
rs13228833	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs13233962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236641	0.81[AMR][1000 genomes]
rs17241389	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17241955	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17242340	0.91[MEX][hapmap]
rs17298417	0.82[MEX][hapmap]
rs17300760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1859491	0.81[AMR][1000 genomes]
rs1990043	0.85[AMR][1000 genomes]
rs1990044	0.85[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.89[LWK][hapmap];0.92[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]
rs1990045	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040871	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][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]
rs2301891	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2372030	0.81[AMR][1000 genomes]
rs2372031	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2372032	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]
rs2372035	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2888221	0.85[AMR][1000 genomes]
rs3029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34665905	0.85[AMR][1000 genomes]
rs3757624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3779443	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3779444	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801616	0.87[MEX][hapmap]
rs3801622	0.80[AMR][1000 genomes]
rs3801629	0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs3801630	0.85[AMR][1000 genomes]
rs3801632	0.85[AMR][1000 genomes]
rs3801633	0.85[AMR][1000 genomes]
rs3801634	0.87[AMR][1000 genomes]
rs3801636	0.87[AMR][1000 genomes]
rs3801637	0.87[AMR][1000 genomes]
rs3801641	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801642	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801643	0.85[AMR][1000 genomes]
rs3801644	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801645	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801649	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801650	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3823911	0.87[MEX][hapmap]
rs41441447	0.87[MEX][hapmap]
rs4732540	0.81[AMR][1000 genomes]
rs4732541	0.85[AMR][1000 genomes]
rs4732544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55679601	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6957333	0.82[AMR][1000 genomes]
rs6965990	0.87[MEX][hapmap]
rs6970168	0.87[AMR][1000 genomes]
rs723997	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs727650	0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs727651	0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs757682	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs764116	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs764117	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7784963	0.82[AMR][1000 genomes]
rs7789342	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7804363	0.87[MEX][hapmap]
rs7808725	0.85[AMR][1000 genomes]
rs7808859	0.85[AMR][1000 genomes]
rs917089	0.86[MEX][hapmap];0.84[AMR][1000 genomes]
rs917090	0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs917091	0.81[AMR][1000 genomes]
rs933340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83735600-83746600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83738200-83746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:83742000-83745200	Enhancers	HUVEC	blood vessel
6	chr7:83742400-83746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:83742400-83746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:83743000-83745800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:83743000-83746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:83743000-83746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:83743000-83746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:83743000-83747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:83743000-83750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:83743200-83751800	Weak transcription	NHDF-Ad	bronchial
16	chr7:83743200-83752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:83743400-83746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:83743400-83752400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:83743600-83746600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:83743800-83752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:83744000-83752000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:83744400-83753400	Weak transcription	NHLF	lung
24	chr7:83744600-83745200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:83744800-83746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:83745000-83745600	Enhancers	Colon Smooth Muscle	Colon
27	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach

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