Variant report

Variant	rs10203522
Chromosome Location	chr2:189965780-189965781
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10165488	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10166867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10168625	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10176299	1.00[AMR][1000 genomes]
rs10180374	1.00[AMR][1000 genomes]
rs10182790	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10182959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10193357	1.00[AMR][1000 genomes]
rs10195176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196855	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10202897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383366	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13383588	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13385828	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13389070	1.00[AMR][1000 genomes]
rs13392441	1.00[AMR][1000 genomes]
rs13392501	1.00[YRI][hapmap]
rs13395385	1.00[AMR][1000 genomes]
rs13396958	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405822	1.00[AFR][1000 genomes]
rs13405825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13407402	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13408124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411571	1.00[AFR][1000 genomes]
rs13411962	1.00[AMR][1000 genomes]
rs13413060	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13413296	1.00[AFR][1000 genomes]
rs13416565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419998	1.00[AMR][1000 genomes]
rs13420752	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421412	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429781	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430867	1.00[AMR][1000 genomes]
rs13431520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28712861	1.00[AMR][1000 genomes]
rs28763874	1.00[AMR][1000 genomes]
rs28763875	1.00[AMR][1000 genomes]
rs59459440	1.00[AMR][1000 genomes]
rs6712385	1.00[AMR][1000 genomes]
rs6732228	1.00[AMR][1000 genomes]
rs73981448	1.00[AMR][1000 genomes]
rs73981451	1.00[AMR][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv3074	chr2:189931263-189976124	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189936600-189969200	Weak transcription	Liver	Liver
4	chr2:189941200-189975000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:189947600-189980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:189948200-189980600	Weak transcription	Placenta	Placenta
7	chr2:189948600-189974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:189950800-189977800	Weak transcription	Fetal Intestine Large	intestine
9	chr2:189954800-189980400	Weak transcription	Ovary	ovary
10	chr2:189958000-189968000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:189958200-189981000	Weak transcription	Fetal Stomach	stomach
12	chr2:189960200-189973800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:189960400-189974400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:189960800-189967600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:189962200-189973600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:189962400-189967600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
18	chr2:189962600-189967400	Strong transcription	HSMM	muscle
19	chr2:189962600-189969800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:189962600-189978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:189962600-189980600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:189962800-189969800	Weak transcription	HUVEC	blood vessel
23	chr2:189963000-189966400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:189963000-189967200	Weak transcription	HSMMtube	muscle
25	chr2:189963000-189969400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:189963000-189970800	Weak transcription	NHLF	lung
27	chr2:189963200-189969800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:189963400-189970000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:189963600-189967200	Weak transcription	Fetal Lung	lung
30	chr2:189963800-189973400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:189964000-189966800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:189964000-189967600	Weak transcription	NHDF-Ad	bronchial
33	chr2:189964400-189965800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:189964600-189966800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:189965000-189966400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:189965000-189967400	Weak transcription	A549	lung
37	chr2:189965200-189966400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:189965200-189966800	Weak transcription	Osteobl	bone
39	chr2:189965200-189968000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:189965200-189972600	Weak transcription	NH-A	brain

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