Variant report

Variant	rs183065
Chromosome Location	chr1:55970605-55970606
allele	C/T
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]
rs1321119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189593	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs356089	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356091	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs356114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs356115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs356116	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs356117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356120	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs397876	0.81[AMR][1000 genomes]
rs418333	0.81[AMR][1000 genomes]
rs440336	0.81[AMR][1000 genomes]
rs692758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs769895	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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:29 , 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	chr1:55968600-55971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:55969000-55970800	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:55969000-55970800	Enhancers	Hela-S3	cervix
5	chr1:55969000-55971000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:55969000-55971000	Enhancers	Fetal Stomach	stomach
7	chr1:55969000-55972200	Enhancers	A549	lung
8	chr1:55969000-55973600	Enhancers	NHLF	lung
9	chr1:55969000-55974400	Enhancers	NHDF-Ad	bronchial
10	chr1:55969200-55970800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:55969200-55971000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:55969200-55972200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:55969400-55970800	Enhancers	Fetal Intestine Large	intestine
14	chr1:55969800-55972600	Weak transcription	Fetal Kidney	kidney
15	chr1:55970000-55973200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:55970000-55977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:55970200-55971200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:55970400-55970800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr1:55970400-55972600	Enhancers	Colonic Mucosa	Colon
20	chr1:55970600-55971600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:55970600-55971600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:55970600-55971600	Weak transcription	Small Intestine	intestine
23	chr1:55970600-55971800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:55970600-55972000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:55970600-55972000	Weak transcription	Fetal Lung	lung
26	chr1:55970600-55972000	Weak transcription	Osteobl	bone
27	chr1:55970600-55973000	Weak transcription	Ovary	ovary
28	chr1:55970600-55973200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:55970600-55978800	Weak transcription	Aorta	Aorta

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