Variant report

Variant	rs1930999
Chromosome Location	chr6:132299373-132299374
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12527379	0.92[EUR][1000 genomes]
rs173055	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1931000	0.97[EUR][1000 genomes]
rs2095252	0.91[EUR][1000 genomes]
rs233907	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs233909	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233910	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs233912	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs233914	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs233915	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs233916	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs233918	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs233939	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693712	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132275600-132299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:132292800-132301600	Weak transcription	Stomach Mucosa	stomach
4	chr6:132296600-132304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:132296800-132301400	Weak transcription	Fetal Kidney	kidney
6	chr6:132297000-132305400	Enhancers	Liver	Liver
7	chr6:132298000-132299600	Weak transcription	Fetal Intestine Large	intestine
8	chr6:132298000-132299800	Weak transcription	HUVEC	blood vessel
9	chr6:132298000-132303000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:132298200-132300800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:132298200-132302200	Weak transcription	Right Atrium	heart
12	chr6:132298200-132302800	Weak transcription	Ovary	ovary
13	chr6:132298200-132319000	Weak transcription	Aorta	Aorta
14	chr6:132298400-132299800	Enhancers	HepG2	liver
15	chr6:132298400-132300800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:132298400-132301400	Weak transcription	Fetal Intestine Small	intestine
17	chr6:132298400-132301600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:132298600-132299800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:132298600-132300800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:132298600-132301000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:132298800-132301200	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:132299000-132300600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:132299200-132300800	Weak transcription	Osteobl	bone
24	chr6:132299200-132301200	Weak transcription	Rectal Mucosa Donor 29	rectum

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