Variant report

Variant	rs62182397
Chromosome Location	chr2:172727404-172727405
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11673831	0.83[AMR][1000 genomes]
rs11675404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11678018	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11691301	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11695630	0.80[AMR][1000 genomes]
rs12991441	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13016580	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13021138	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13024662	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1554259	0.80[AMR][1000 genomes]
rs17427311	0.84[AFR][1000 genomes]
rs17427473	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17499502	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17848721	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996424	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2138349	0.84[AFR][1000 genomes]
rs2357062	0.84[AFR][1000 genomes]
rs34108287	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34137430	0.83[AMR][1000 genomes]
rs34221876	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34632749	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34962243	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3770459	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62182402	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182403	0.81[ASN][1000 genomes]
rs62182435	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62182443	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62183760	0.81[AMR][1000 genomes]
rs62183768	0.83[AMR][1000 genomes]
rs62183773	0.82[AMR][1000 genomes]
rs62184174	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74173119	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
3	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
5	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:172693600-172734600	Weak transcription	HSMM	muscle
8	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
10	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:172699600-172731400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:172704800-172731000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:172705200-172731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:172709800-172731400	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:172711400-172731000	Weak transcription	GM12878-XiMat	blood
25	chr2:172711600-172740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:172712000-172731200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:172712200-172731000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
29	chr2:172712400-172731400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:172712400-172738200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:172715400-172731200	Weak transcription	Fetal Lung	lung
32	chr2:172715400-172732600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:172715400-172735200	Weak transcription	NHLF	lung
34	chr2:172715600-172731200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:172716600-172736600	Weak transcription	Ovary	ovary
36	chr2:172719600-172731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:172720800-172729600	Weak transcription	Gastric	stomach
38	chr2:172721200-172729400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:172721200-172731200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:172721200-172734600	Weak transcription	Right Atrium	heart
41	chr2:172721200-172734600	Weak transcription	HSMMtube	muscle
42	chr2:172721200-172749600	Weak transcription	Thymus	Thymus
43	chr2:172721400-172731200	Weak transcription	Primary T cells from cord blood	blood
44	chr2:172721400-172731200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:172721400-172731400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:172721400-172731600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:172721400-172732400	Weak transcription	HMEC	breast
48	chr2:172721400-172732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:172721400-172734600	Weak transcription	Aorta	Aorta
50	chr2:172721400-172734600	Weak transcription	Brain Anterior Caudate	brain

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