Variant report

Variant	rs6696406
Chromosome Location	chr1:186828117-186828118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10752976	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1473676	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651331	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651333	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
2	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
5	chr1:186818000-186831000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:186818000-186834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:186818800-186828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:186822800-186828200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:186824200-186832200	Weak transcription	HUVEC	blood vessel
10	chr1:186825400-186828200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:186825400-186828200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:186825400-186829800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:186826000-186829400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:186826000-186829600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:186826000-186833800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186827200-186834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:186827600-186828800	Enhancers	Colon Smooth Muscle	Colon
19	chr1:186827800-186828400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:186827800-186828400	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:186827800-186828600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:186827800-186828800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:186827800-186829000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:186827800-186829200	Enhancers	NHEK	skin
25	chr1:186827800-186829600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:186828000-186828600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:186828000-186829000	Enhancers	Fetal Brain Male	brain

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