Variant report

Variant	rs7630968
Chromosome Location	chr3:53662970-53662971
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	chr3:53661729..53666678-chr3:53666737..53670217,5	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1356656	1.00[MEX][hapmap]
rs1356657	1.00[AMR][1000 genomes]
rs1356658	1.00[AMR][1000 genomes]
rs1401493	1.00[AMR][1000 genomes]
rs1401498	1.00[AMR][1000 genomes]
rs2612017	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2612021	1.00[AMR][1000 genomes]
rs2633711	1.00[AMR][1000 genomes]
rs2633712	1.00[AMR][1000 genomes]
rs2633733	1.00[AMR][1000 genomes]
rs2680653	1.00[AMR][1000 genomes]
rs2680655	1.00[AMR][1000 genomes]
rs2680667	1.00[AMR][1000 genomes]
rs6780679	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6798837	0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs746487	1.00[AMR][1000 genomes]
rs7630673	1.00[MEX][hapmap]
rs9857905	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs9875748	1.00[ASW][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53652800-53684000	Weak transcription	Right Atrium	heart
2	chr3:53659200-53663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:53659400-53664600	Weak transcription	Fetal Kidney	kidney
4	chr3:53659600-53663400	Weak transcription	Lung	lung
5	chr3:53659600-53663600	Weak transcription	Pancreas	Pancrea
6	chr3:53661400-53667200	Weak transcription	Fetal Intestine Large	intestine
7	chr3:53661600-53663200	Weak transcription	Esophagus	oesophagus
8	chr3:53661600-53665000	Weak transcription	Fetal Intestine Small	intestine
9	chr3:53662000-53663600	Enhancers	Fetal Lung	lung
10	chr3:53662000-53665400	Enhancers	Stomach Mucosa	stomach
11	chr3:53662200-53663600	Enhancers	HMEC	breast
12	chr3:53662200-53663800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:53662200-53664000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:53662200-53664200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:53662200-53664800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:53662200-53664800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:53662400-53663600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:53662400-53663800	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:53662400-53664400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:53662600-53663200	Enhancers	NHEK	skin
21	chr3:53662600-53663400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:53662600-53663400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:53662600-53663600	Enhancers	Brain Germinal Matrix	brain
24	chr3:53662600-53664200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:53662800-53663000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:53662800-53663000	Enhancers	Fetal Brain Female	brain
27	chr3:53662800-53663400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:53662800-53663600	Enhancers	Fetal Brain Male	brain
29	chr3:53662800-53663600	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr3:53662800-53663800	Enhancers	Colon Smooth Muscle	Colon

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