Variant report

Variant	rs62130186
Chromosome Location	chr2:10542272-10542273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10538831..10544260-chr2:10544573..10548851,6	K562	blood:
2	chr2:10533744..10537127-chr2:10539374..10542865,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10189719	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12467741	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12472775	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1808315	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2270299	0.86[ASN][1000 genomes]
rs2270300	0.87[ASN][1000 genomes]
rs2270301	0.87[ASN][1000 genomes]
rs35158739	0.97[ASN][1000 genomes]
rs3755263	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3755264	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3771128	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3771129	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3771134	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3771138	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3771141	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62130189	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62130190	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs876614	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs876615	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs876616	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10531000-10542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:10531000-10544600	Weak transcription	NHLF	lung
5	chr2:10531200-10542400	Weak transcription	HSMMtube	muscle
6	chr2:10531200-10542400	Weak transcription	NH-A	brain
7	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:10533000-10551800	Weak transcription	Ovary	ovary
9	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:10533600-10544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:10533600-10544200	Weak transcription	Fetal Brain Female	brain
12	chr2:10534000-10545400	Weak transcription	Fetal Lung	lung
13	chr2:10537000-10543000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:10537000-10543400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:10537400-10542600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:10537400-10542600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:10537400-10542800	Enhancers	Left Ventricle	heart
18	chr2:10537600-10542600	Genic enhancers	Lung	lung
19	chr2:10538200-10542800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:10538200-10544400	Weak transcription	Psoas Muscle	Psoas
21	chr2:10539400-10544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:10539600-10542800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:10539600-10544400	Weak transcription	Fetal Kidney	kidney
24	chr2:10539800-10542600	Genic enhancers	Gastric	stomach
25	chr2:10539800-10542800	Enhancers	Stomach Mucosa	stomach
26	chr2:10540000-10542600	Genic enhancers	Primary B cells from cord blood	blood
27	chr2:10540000-10542600	Enhancers	Right Ventricle	heart
28	chr2:10540200-10542600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:10540200-10543000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:10540200-10544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:10540600-10542600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:10540600-10542600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:10540600-10542600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:10540600-10542600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:10540600-10542800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:10540600-10542800	Enhancers	Small Intestine	intestine
37	chr2:10540600-10543000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:10540800-10543000	Enhancers	Colonic Mucosa	Colon
39	chr2:10540800-10543400	Enhancers	Colon Smooth Muscle	Colon
40	chr2:10540800-10543600	Enhancers	Fetal Intestine Large	intestine
41	chr2:10541000-10542400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:10541000-10542600	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:10541000-10542800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:10541000-10543600	Genic enhancers	Fetal Intestine Small	intestine
45	chr2:10541000-10544000	Weak transcription	NHEK	skin
46	chr2:10541000-10544200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:10541000-10544200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:10541000-10544400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:10541000-10547400	Weak transcription	K562	blood
50	chr2:10541200-10542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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