Variant report

Variant	rs62177277
Chromosome Location	chr2:180004448-180004449
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179990644..179992721-chr2:180003873..180005520,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12622222	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17454087	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17454199	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17454527	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57103880	0.82[AFR][1000 genomes]
rs58232562	0.90[AFR][1000 genomes]
rs60006637	0.85[AFR][1000 genomes]
rs61060733	0.85[AFR][1000 genomes]
rs62175447	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62175448	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62175449	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62175450	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177280	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177283	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177285	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177287	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177289	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177291	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177326	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177327	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177328	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177330	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62177332	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177335	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177336	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177337	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177338	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62177339	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62179066	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62179067	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62179068	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62179069	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv3060	chr2:179990791-180035511	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179971600-180012600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:179972000-180005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:179972000-180005200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:179972800-180014600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:179973000-180007200	Weak transcription	GM12878-XiMat	blood
6	chr2:179973400-180006800	Weak transcription	Small Intestine	intestine
7	chr2:179973400-180012600	Weak transcription	NHLF	lung
8	chr2:179973400-180030200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:179975800-180047600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:179977400-180005000	Weak transcription	Fetal Kidney	kidney
11	chr2:179977400-180049000	Weak transcription	HSMMtube	muscle
12	chr2:179978200-180014600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:179980000-180038800	Weak transcription	HMEC	breast
14	chr2:179980000-180056800	Weak transcription	HSMM	muscle
15	chr2:179980400-180005200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:179980400-180005600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:179981400-180005000	Weak transcription	Ovary	ovary
18	chr2:179981400-180016800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:179981600-180005000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:179981800-180005400	Weak transcription	Osteobl	bone
21	chr2:179982800-180004600	Weak transcription	Fetal Brain Male	brain
22	chr2:179983600-180005000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:179984600-180004600	Weak transcription	HUVEC	blood vessel
24	chr2:179984800-180005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:179985000-180025600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:179985600-180005800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:179985800-180005800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:179985800-180010200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:179986200-180006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:179986600-180030400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:179990800-180005000	Weak transcription	Thymus	Thymus
32	chr2:179991600-180004600	Weak transcription	Brain Angular Gyrus	brain
33	chr2:179991600-180005000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:179991600-180005600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:179991600-180007200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:179991600-180043200	Weak transcription	Psoas Muscle	Psoas
37	chr2:179991800-180006000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:179992200-180014600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:179992400-180005600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:179994800-180005600	Weak transcription	Fetal Heart	heart
41	chr2:179995800-180016200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:179996200-180047600	Weak transcription	NH-A	brain
43	chr2:179996800-180004800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
45	chr2:179999800-180005200	Weak transcription	Primary T cells from cord blood	blood
46	chr2:179999800-180009600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:180000600-180016200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:180000600-180016200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:180001200-180005400	Weak transcription	NHDF-Ad	bronchial
50	chr2:180001200-180016200	Strong transcription	HepG2	liver

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