Variant report

Variant	rs744688
Chromosome Location	chr6:33852501-33852502
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: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16869648	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16869660	1.00[EUR][1000 genomes]
rs58823120	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs58937462	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6457746	0.83[AFR][1000 genomes]
rs6918090	1.00[EUR][1000 genomes]
rs6926599	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6930960	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73416177	0.82[EUR][1000 genomes]
rs73416178	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73418511	0.87[EUR][1000 genomes]
rs73418515	1.00[EUR][1000 genomes]
rs744686	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs744687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746977	0.81[EUR][1000 genomes]
rs7748471	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748483	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767294	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767496	0.99[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33844200-33852600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:33847600-33852600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:33848200-33852800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:33848200-33853000	Weak transcription	Colonic Mucosa	Colon
5	chr6:33850000-33860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:33850000-33871800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:33850200-33852600	Weak transcription	Esophagus	oesophagus
8	chr6:33850200-33853600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:33850400-33852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:33850400-33852800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:33850400-33852800	Weak transcription	NHEK	skin
12	chr6:33850400-33853200	Weak transcription	Left Ventricle	heart
13	chr6:33850400-33853200	Weak transcription	Right Atrium	heart
14	chr6:33850400-33853200	Weak transcription	Right Ventricle	heart
15	chr6:33850400-33853800	Weak transcription	Fetal Lung	lung
16	chr6:33851200-33856200	Enhancers	Fetal Intestine Large	intestine
17	chr6:33851400-33852800	Weak transcription	Small Intestine	intestine
18	chr6:33852000-33854200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:33852000-33854600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr6:33852000-33854600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:33852200-33853200	Enhancers	Hela-S3	cervix
22	chr6:33852200-33855400	Enhancers	Colon Smooth Muscle	Colon
23	chr6:33852400-33852800	Enhancers	Rectal Smooth Muscle	rectum
24	chr6:33852400-33853800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:33852400-33854800	Enhancers	Stomach Smooth Muscle	stomach
26	chr6:33852400-33855200	Enhancers	Fetal Intestine Small	intestine
27	chr6:33852400-33855200	Enhancers	NHDF-Ad	bronchial

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