Variant report

Variant	rs12707617
Chromosome Location	chr7:83745474-83745475
allele	A/G
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: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10259508	0.84[EUR][1000 genomes]
rs10261415	0.84[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs10263314	0.84[CEU][hapmap]
rs10279093	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808306	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs12707615	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707616	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707619	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1468344	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468345	0.84[CEU][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1468346	0.81[EUR][1000 genomes]
rs2040872	0.85[EUR][1000 genomes]
rs2067693	0.84[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs2158566	0.87[EUR][1000 genomes]
rs2372033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801655	0.84[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs4141151	0.88[EUR][1000 genomes]
rs447	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs4732543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467987	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467988	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs6964546	0.84[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes]
rs6974494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977099	0.86[EUR][1000 genomes]
rs6977306	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978184	0.84[CEU][hapmap]
rs7781923	0.82[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7783472	0.84[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7785708	0.84[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7793598	0.83[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs929334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929335	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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:26 , 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	chr7:83742400-83746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:83742400-83746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:83743000-83745800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:83743000-83746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:83743000-83746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:83743000-83746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:83743000-83747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83743000-83750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:83743200-83751800	Weak transcription	NHDF-Ad	bronchial
15	chr7:83743200-83752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:83743400-83746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:83743400-83752400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83743600-83746600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:83743800-83752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:83744000-83752000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:83744400-83753400	Weak transcription	NHLF	lung
23	chr7:83744800-83746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:83745000-83745600	Enhancers	Colon Smooth Muscle	Colon
25	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
26	chr7:83745400-83746800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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