Variant report

Variant	rs1282971
Chromosome Location	chr3:111567705-111567706
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	chr3:111566221..111568973-chr3:111577173..111579400,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144824	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1039309	1.00[AMR][1000 genomes]
rs10755070	0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12171297	1.00[AMR][1000 genomes]
rs1282969	0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1282973	0.86[AFR][1000 genomes]
rs1352888	1.00[AMR][1000 genomes]
rs1463875	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1553226	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2055363	1.00[AMR][1000 genomes]
rs28809607	1.00[AMR][1000 genomes]
rs4682064	1.00[AMR][1000 genomes]
rs7340610	0.85[AFR][1000 genomes]
rs7340688	1.00[AMR][1000 genomes]
rs7616227	0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7644889	1.00[AMR][1000 genomes]
rs8179903	1.00[AMR][1000 genomes]
rs937555	1.00[AMR][1000 genomes]
rs937556	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937558	0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111563000-111577400	Weak transcription	HepG2	liver
3	chr3:111563600-111568400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:111563800-111571200	Weak transcription	Stomach Mucosa	stomach
5	chr3:111564400-111567800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:111564400-111568400	Enhancers	NHEK	skin
7	chr3:111564600-111568000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:111564600-111568000	Enhancers	HMEC	breast
9	chr3:111564600-111568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:111564600-111568400	Enhancers	Hela-S3	cervix
11	chr3:111564800-111567800	Strong transcription	Liver	Liver
12	chr3:111564800-111568200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:111564800-111568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:111565000-111571200	Enhancers	Placenta	Placenta
15	chr3:111565400-111569400	Weak transcription	NHLF	lung
16	chr3:111565600-111570200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:111565800-111570200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:111565800-111570200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:111565800-111570600	Weak transcription	HSMM	muscle
20	chr3:111566000-111569600	Weak transcription	Osteobl	bone
21	chr3:111566000-111571400	Weak transcription	Fetal Heart	heart
22	chr3:111566200-111570000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:111566200-111570000	Weak transcription	NH-A	brain
24	chr3:111566200-111570400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:111566200-111577400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:111566600-111567800	Enhancers	Small Intestine	intestine
27	chr3:111566800-111568000	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:111567200-111567800	Enhancers	NHDF-Ad	bronchial
29	chr3:111567200-111568200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:111567200-111568400	Enhancers	Fetal Intestine Large	intestine
31	chr3:111567200-111570800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:111567400-111567800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:111567400-111567800	Enhancers	A549	lung
34	chr3:111567600-111569000	Weak transcription	HUVEC	blood vessel
35	chr3:111567600-111570400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:111567600-111570400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:111567600-111570400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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