Variant report

Variant	rs62183760
Chromosome Location	chr2:172824056-172824057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172823483..172825325-chr2:172830958..172835156,3	K562	blood:
2	chr2:172822493..172825174-chr2:172862340..172864873,2	K562	blood:
3	chr2:172822392..172824511-chr2:172856207..172858806,2	K562	blood:
4	chr2:172822526..172824288-chr2:172851603..172854588,2	K562	blood:
5	chr2:172816237..172818106-chr2:172823230..172825687,2	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11675404	0.81[AMR][1000 genomes]
rs11678018	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11691301	0.85[EUR][1000 genomes]
rs11695630	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2083854	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34137430	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62182397	0.81[AMR][1000 genomes]
rs62182402	0.80[AMR][1000 genomes]
rs62182435	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62182443	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62183768	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62183773	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62183777	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
7	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:172790400-172825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:172796000-172855200	Weak transcription	Gastric	stomach
10	chr2:172796800-172832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
12	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
13	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
15	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:172810400-172825400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:172811400-172826000	Weak transcription	Hela-S3	cervix
18	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
21	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
22	chr2:172813000-172826400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:172813000-172826400	Weak transcription	Fetal Stomach	stomach
24	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
25	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
26	chr2:172815200-172828400	Weak transcription	Lung	lung
27	chr2:172815200-172835800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
29	chr2:172815600-172827800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:172816800-172844200	Weak transcription	NHLF	lung
31	chr2:172817800-172833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:172817800-172833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
34	chr2:172820600-172825800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:172820600-172828200	Strong transcription	K562	blood
36	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
38	chr2:172821400-172828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:172821600-172825600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:172821600-172826400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:172821600-172827800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:172821800-172824200	Strong transcription	NHDF-Ad	bronchial
44	chr2:172821800-172825800	Strong transcription	A549	lung
45	chr2:172821800-172826200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:172821800-172826200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:172821800-172828600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:172821800-172831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:172822000-172824600	Strong transcription	HSMM	muscle
50	chr2:172822000-172824800	Strong transcription	Adipose Nuclei	Adipose

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