Variant report

Variant	rs2205897
Chromosome Location	chr1:186812367-186812368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489407	0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10732978	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10737270	0.83[CHB][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10752977	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10752978	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10752979	0.83[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10798061	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911933	0.83[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911934	0.81[CHB][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4651330	0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4651332	0.83[YRI][hapmap]
rs4651334	0.83[ASN][1000 genomes]
rs6425051	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6425052	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425053	0.83[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6669230	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6682761	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6685652	0.83[CHB][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6687896	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6688584	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7521601	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7522183	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7532616	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7541946	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186800200-186827800	Weak transcription	NHEK	skin
2	chr1:186801000-186818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186807600-186812800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:186807600-186814400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:186808400-186814600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:186808600-186813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:186808600-186814400	Weak transcription	GM12878-XiMat	blood
8	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
9	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:186809800-186814200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:186810000-186814200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:186810200-186814400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:186810200-186814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:186810400-186824800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:186810600-186813000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:186810600-186813600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:186811000-186814600	Weak transcription	A549	lung
18	chr1:186811200-186812600	Enhancers	Stomach Mucosa	stomach
19	chr1:186811400-186812400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:186811600-186813400	Strong transcription	Hela-S3	cervix
21	chr1:186811800-186814800	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:186811800-186814800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:186812000-186812400	Weak transcription	Small Intestine	intestine
24	chr1:186812000-186812800	Enhancers	Brain Anterior Caudate	brain
25	chr1:186812000-186814600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:186812000-186814600	Weak transcription	Adipose Nuclei	Adipose
27	chr1:186812200-186813000	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:186812200-186814200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:186812200-186814400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:186812200-186814400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:186812200-186814400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:186812200-186814800	Weak transcription	Fetal Intestine Small	intestine
33	chr1:186812200-186817400	Weak transcription	Fetal Intestine Large	intestine
34	chr1:186812200-186817400	Weak transcription	Rectal Mucosa Donor 31	rectum

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