Variant report

Variant	rs6969610
Chromosome Location	chr7:124391561-124391562
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	chr22:26812404..26814567-chr7:124390458..124393276,2	MCF-7	breast:
2	chr7:124384410..124386262-chr7:124390545..124393213,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2190107	1.00[ASW][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61744942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66528014	0.81[AFR][1000 genomes]
rs6971960	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6972234	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73443829	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443830	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443835	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443846	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73443852	0.81[AFR][1000 genomes]
rs73719044	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792880	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7801681	0.81[AFR][1000 genomes]
rs7807266	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124378600-124396600	Weak transcription	Fetal Lung	lung
2	chr7:124383000-124394800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:124385000-124394800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:124385200-124396600	Weak transcription	Aorta	Aorta
5	chr7:124385800-124395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:124387000-124394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:124387400-124392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:124387400-124392000	Weak transcription	NHLF	lung
9	chr7:124387400-124395200	Weak transcription	Liver	Liver
10	chr7:124387400-124402600	Weak transcription	Fetal Stomach	stomach
11	chr7:124387600-124392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:124387600-124396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:124387800-124401200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:124389400-124391600	Active TSS	Brain Hippocampus Middle	brain
15	chr7:124389600-124392200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:124389800-124395000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:124389800-124395000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:124390000-124394600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:124390400-124392200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:124390800-124392400	Active TSS	Brain Cingulate Gyrus	brain
21	chr7:124391000-124391800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:124391200-124391800	Weak transcription	Fetal Brain Male	brain
23	chr7:124391200-124392000	Weak transcription	Brain Anterior Caudate	brain
24	chr7:124391200-124392800	Enhancers	Brain Germinal Matrix	brain
25	chr7:124391200-124392800	Active TSS	Brain Substantia Nigra	brain
26	chr7:124391400-124391800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:124391400-124392000	Weak transcription	Brain Angular Gyrus	brain
28	chr7:124391400-124392000	Enhancers	Fetal Brain Female	brain

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