Variant report

Variant	rs1740123
Chromosome Location	chr1:55969501-55969502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1078877	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1165390	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1165391	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1695937	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1695939	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1695957	0.83[AMR][1000 genomes]
rs1695958	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1695960	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1740118	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1740119	0.81[AMR][1000 genomes]
rs1740122	0.81[AMR][1000 genomes]
rs1740126	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418899	0.85[CHB][hapmap]
rs1780520	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1780524	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1780526	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1780534	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980549	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2649627	0.81[ASN][1000 genomes]
rs2649629	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.80[ASN][1000 genomes]
rs2748703	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2800838	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2800840	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4325177	0.88[EUR][1000 genomes];0.87[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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1008241	chr1:55922008-55972596	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:55966400-55974000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:55968400-55969600	Weak transcription	Thymus	Thymus
3	chr1:55968600-55970400	Weak transcription	Right Atrium	heart
4	chr1:55968600-55971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:55969000-55969600	Enhancers	Colonic Mucosa	Colon
6	chr1:55969000-55970200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:55969000-55970600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:55969000-55970600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:55969000-55970600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:55969000-55970600	Enhancers	Aorta	Aorta
11	chr1:55969000-55970600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:55969000-55970600	Enhancers	Ovary	ovary
13	chr1:55969000-55970600	Enhancers	Small Intestine	intestine
14	chr1:55969000-55970600	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:55969000-55970600	Enhancers	Osteobl	bone
16	chr1:55969000-55970800	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:55969000-55970800	Enhancers	Hela-S3	cervix
18	chr1:55969000-55971000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:55969000-55971000	Enhancers	Fetal Stomach	stomach
20	chr1:55969000-55972200	Enhancers	A549	lung
21	chr1:55969000-55973600	Enhancers	NHLF	lung
22	chr1:55969000-55974400	Enhancers	NHDF-Ad	bronchial
23	chr1:55969200-55969800	Enhancers	Fetal Kidney	kidney
24	chr1:55969200-55970600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:55969200-55970600	Enhancers	Adipose Nuclei	Adipose
26	chr1:55969200-55970800	Enhancers	Colon Smooth Muscle	Colon
27	chr1:55969200-55971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:55969200-55972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:55969400-55969600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:55969400-55970600	Enhancers	Fetal Lung	lung
31	chr1:55969400-55970600	Enhancers	HepG2	liver
32	chr1:55969400-55970800	Enhancers	Fetal Intestine Large	intestine

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