Variant report

Variant	rs623233
Chromosome Location	chr6:140285013-140285014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139695184..139697325-chr6:140282600..140285421,2	MCF-7	breast:
2	chr6:140283795..140286173-chr6:140291088..140293837,2	MCF-7	breast:
3	chr6:140283635..140285359-chr6:140286373..140288946,2	K562	blood:
4	chr6:140282684..140285359-chr6:140286233..140287873,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1102076	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1361248	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1416288	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs4243464	0.81[AFR][1000 genomes]
rs4895579	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs594560	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs603321	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs623331	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs642858	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs644467	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs646695	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs646747	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs674672	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6933684	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs9376483	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9376484	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs9403133	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140280000-140286600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:140282200-140285800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:140282200-140286000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:140282200-140286400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:140282200-140288800	Weak transcription	NHDF-Ad	bronchial
6	chr6:140282800-140285800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:140282800-140285800	Weak transcription	Fetal Kidney	kidney
8	chr6:140283800-140286400	Enhancers	Fetal Lung	lung
9	chr6:140284200-140286000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:140284200-140287200	Enhancers	Fetal Stomach	stomach
11	chr6:140284400-140286000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:140284400-140292200	Weak transcription	Placenta	Placenta
13	chr6:140284600-140285800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:140284600-140287600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:140284600-140288400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:140284800-140285800	Weak transcription	Liver	Liver
17	chr6:140284800-140286000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:140284800-140286800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:140285000-140285600	Weak transcription	Fetal Heart	heart
20	chr6:140285000-140286000	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:140285000-140286000	Weak transcription	NHLF	lung
22	chr6:140285000-140286200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:140285000-140286400	Weak transcription	Ovary	ovary
24	chr6:140285000-140287000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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