Variant report

Variant	rs7748471
Chromosome Location	chr6:33853044-33853045
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	chr6:33852232..33854497-chr6:33862990..33864814,2	MCF-7	breast:
2	chr6:33840631..33842929-chr6:33851887..33853913,2	K562	blood:

Variant related genes	Relation type
ENSG00000249346	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16869648	0.82[EUR][1000 genomes]
rs16869660	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs58823120	0.86[EUR][1000 genomes]
rs58937462	0.86[EUR][1000 genomes]
rs6918090	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6926599	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6930960	1.00[EUR][1000 genomes]
rs73416177	0.82[EUR][1000 genomes]
rs73416178	0.86[EUR][1000 genomes]
rs73418511	0.87[EUR][1000 genomes]
rs73418515	1.00[EUR][1000 genomes]
rs744686	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744687	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744688	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746977	0.81[EUR][1000 genomes]
rs7748483	1.00[CEU][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767496	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 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	chr6:33850000-33860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:33850000-33871800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33850200-33853600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:33850400-33853200	Weak transcription	Left Ventricle	heart
5	chr6:33850400-33853200	Weak transcription	Right Atrium	heart
6	chr6:33850400-33853200	Weak transcription	Right Ventricle	heart
7	chr6:33850400-33853800	Weak transcription	Fetal Lung	lung
8	chr6:33851200-33856200	Enhancers	Fetal Intestine Large	intestine
9	chr6:33852000-33854200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:33852000-33854600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:33852000-33854600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:33852200-33853200	Enhancers	Hela-S3	cervix
13	chr6:33852200-33855400	Enhancers	Colon Smooth Muscle	Colon
14	chr6:33852400-33853800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:33852400-33854800	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:33852400-33855200	Enhancers	Fetal Intestine Small	intestine
17	chr6:33852400-33855200	Enhancers	NHDF-Ad	bronchial
18	chr6:33852600-33853600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:33852600-33853800	Enhancers	Esophagus	oesophagus
20	chr6:33852600-33853800	Enhancers	A549	lung
21	chr6:33852600-33854000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:33852600-33854200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:33852600-33854400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:33852600-33854800	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:33852600-33855000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:33852600-33855000	Enhancers	HSMMtube	muscle
27	chr6:33852600-33855000	Enhancers	Osteobl	bone
28	chr6:33852600-33855200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:33852800-33853600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:33852800-33853600	Enhancers	Lung	lung
31	chr6:33852800-33853600	Enhancers	HMEC	breast
32	chr6:33852800-33853800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:33852800-33854400	Enhancers	HSMM	muscle
34	chr6:33852800-33854800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:33852800-33855000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:33852800-33855000	Enhancers	NHLF	lung
37	chr6:33852800-33855200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:33852800-33855200	Enhancers	Small Intestine	intestine
39	chr6:33852800-33855400	Enhancers	NHEK	skin
40	chr6:33852800-33856000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:33853000-33853200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:33853000-33853200	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:33853000-33853600	Bivalent Enhancer	Placenta	Placenta
44	chr6:33853000-33854600	Enhancers	Colonic Mucosa	Colon

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