Variant report

Variant	rs233907
Chromosome Location	chr6:132303216-132303217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132301703-132305703	Hela-S3	cervix:
2	6:132182612-132191683..6:132301703-132305703	GM12878	blood:

Variant related genes	Relation type
ENSG00000227220	Chromatin interaction
ENSG00000118523	Chromatin interaction
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1206719	0.81[AFR][1000 genomes]
rs1206733	0.81[AFR][1000 genomes]
rs1206734	0.81[AFR][1000 genomes]
rs12527379	0.91[EUR][1000 genomes]
rs13437472	0.82[AFR][1000 genomes]
rs170881	0.84[ASN][1000 genomes]
rs173055	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1930999	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1931000	0.91[EUR][1000 genomes]
rs2095252	0.91[EUR][1000 genomes]
rs233909	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233910	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233912	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233914	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233915	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233916	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233918	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233920	0.83[ASN][1000 genomes]
rs233921	0.84[ASN][1000 genomes]
rs233922	0.84[ASN][1000 genomes]
rs233924	0.84[ASN][1000 genomes]
rs233926	0.84[ASN][1000 genomes]
rs233927	0.83[ASN][1000 genomes]
rs233933	0.81[ASN][1000 genomes]
rs233935	0.94[AFR][1000 genomes]
rs233936	0.94[AFR][1000 genomes]
rs233939	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233942	0.82[ASN][1000 genomes]
rs233943	0.84[ASN][1000 genomes]
rs233945	0.84[ASN][1000 genomes]
rs403374	0.81[ASN][1000 genomes]
rs412319	0.81[ASN][1000 genomes]
rs440883	0.81[ASN][1000 genomes]
rs693712	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9321322	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886672	chr6:132299748-132349215	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv886673	chr6:132299748-132363507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv427768	chr6:132300468-132398477	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:132296600-132304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:132297000-132305400	Enhancers	Liver	Liver
4	chr6:132298200-132319000	Weak transcription	Aorta	Aorta
5	chr6:132300400-132303800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:132300400-132304600	Enhancers	HUVEC	blood vessel
7	chr6:132300600-132306600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:132300800-132304800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:132300800-132306000	Enhancers	Osteobl	bone
10	chr6:132300800-132307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:132301000-132305000	Enhancers	NH-A	brain
12	chr6:132301000-132305000	Enhancers	NHDF-Ad	bronchial
13	chr6:132301000-132306200	Enhancers	HSMM	muscle
14	chr6:132301200-132305800	Enhancers	NHLF	lung
15	chr6:132301400-132304000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:132301400-132304400	Enhancers	A549	lung
17	chr6:132301400-132304800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:132301600-132303400	Enhancers	Stomach Mucosa	stomach
19	chr6:132301600-132303800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:132301600-132304000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:132302000-132305400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:132302400-132304200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:132302800-132303600	Weak transcription	Adipose Nuclei	Adipose
24	chr6:132302800-132303600	Weak transcription	HSMMtube	muscle
25	chr6:132303000-132306200	Enhancers	HepG2	liver
26	chr6:132303000-132320600	Weak transcription	Left Ventricle	heart
27	chr6:132303200-132303600	Weak transcription	HMEC	breast
28	chr6:132303200-132304000	Weak transcription	Ovary	ovary
29	chr6:132303200-132304000	Weak transcription	Small Intestine	intestine
30	chr6:132303200-132304400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:132303200-132304600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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