Variant report

Variant	rs6974494
Chromosome Location	chr7:83743961-83743962
allele	C/T
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10259508	0.83[EUR][1000 genomes]
rs10261415	0.81[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs10279093	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808306	0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs12707615	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707616	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707617	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]
rs12707619	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1468344	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468345	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1468346	0.82[EUR][1000 genomes]
rs2040872	0.84[EUR][1000 genomes]
rs2067693	0.81[CHB][hapmap];0.83[CHD][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs2158566	0.86[EUR][1000 genomes]
rs2372033	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801655	0.81[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs4141151	0.87[EUR][1000 genomes]
rs447	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs4732543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467987	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467988	0.90[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes]
rs6964546	0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs6977099	0.84[EUR][1000 genomes]
rs6977306	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781923	0.81[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7783472	0.81[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7785708	0.81[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7793598	0.81[CHB][hapmap];0.91[CHD][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs929334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929335	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[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:44 , 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	chr7:83736400-83744200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:83738200-83746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:83739400-83744600	Enhancers	Fetal Heart	heart
6	chr7:83740000-83744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:83740600-83744600	Enhancers	Fetal Lung	lung
8	chr7:83741200-83744000	Enhancers	Adipose Nuclei	Adipose
9	chr7:83741200-83744000	Enhancers	Colon Smooth Muscle	Colon
10	chr7:83741400-83753400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83741800-83744000	Enhancers	Rectal Smooth Muscle	rectum
12	chr7:83742000-83744200	Enhancers	NH-A	brain
13	chr7:83742000-83745200	Enhancers	HUVEC	blood vessel
14	chr7:83742200-83744000	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:83742200-83744000	Enhancers	Fetal Brain Female	brain
16	chr7:83742200-83744400	Enhancers	NHLF	lung
17	chr7:83742200-83745000	Enhancers	Fetal Stomach	stomach
18	chr7:83742400-83744000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:83742400-83744000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:83742400-83744000	Enhancers	Brain Substantia Nigra	brain
21	chr7:83742400-83746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:83742400-83746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:83742800-83744600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:83743000-83744600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:83743000-83745800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:83743000-83746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:83743000-83746200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:83743000-83746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:83743000-83747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:83743000-83750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:83743000-83756400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:83743200-83744000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:83743200-83751800	Weak transcription	NHDF-Ad	bronchial
34	chr7:83743200-83752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:83743400-83744000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:83743400-83746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:83743400-83752400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:83743600-83744000	Enhancers	Right Ventricle	heart
39	chr7:83743600-83744400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:83743600-83746600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:83743800-83744000	Enhancers	Brain Anterior Caudate	brain
42	chr7:83743800-83744000	Enhancers	Fetal Brain Male	brain
43	chr7:83743800-83752200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:83743800-83753200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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