Variant report

Variant	rs1437880
Chromosome Location	chr2:190531426-190531427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190529439..190532405-chr2:190545827..190547782,2	MCF-7	breast:
2	chr2:190525922..190529074-chr2:190530082..190533259,4	K562	blood:
3	chr2:190526059..190528358-chr2:190528591..190531443,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1020151	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209441	1.00[AMR][1000 genomes]
rs1030135	1.00[ASN][1000 genomes]
rs10931429	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11888722	1.00[AMR][1000 genomes]
rs1225079	1.00[CHB][hapmap]
rs1225086	1.00[AMR][1000 genomes]
rs1225088	1.00[CHB][hapmap]
rs1225099	1.00[CHB][hapmap]
rs1225103	1.00[AMR][1000 genomes]
rs1225106	1.00[ASN][1000 genomes]
rs1225107	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1225109	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1225110	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1225120	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1233275	1.00[ASN][1000 genomes]
rs1233277	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1233281	1.00[ASN][1000 genomes]
rs1233283	1.00[ASN][1000 genomes]
rs1233287	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1233289	1.00[ASN][1000 genomes]
rs1233292	1.00[ASN][1000 genomes]
rs1233293	1.00[ASN][1000 genomes]
rs1233294	1.00[ASN][1000 genomes]
rs1233296	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1233300	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1233303	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12693550	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1550241	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1550242	1.00[AMR][1000 genomes]
rs16831859	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16831861	1.00[CHB][hapmap]
rs16831884	1.00[CHB][hapmap]
rs16831894	1.00[CHB][hapmap]
rs1866643	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2019099	1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2118454	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs2118455	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2164831	1.00[CHB][hapmap]
rs2164833	1.00[ASN][1000 genomes]
rs2249907	1.00[CHB][hapmap]
rs2254040	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2255705	1.00[CHB][hapmap]
rs2256719	1.00[CHB][hapmap]
rs2262765	1.00[CHB][hapmap]
rs2263968	1.00[AMR][1000 genomes]
rs2352288	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs3811622	1.00[CHB][hapmap]
rs5742992	1.00[AMR][1000 genomes]
rs5742999	1.00[AMR][1000 genomes]
rs5743205	1.00[AMR][1000 genomes]
rs6434356	1.00[ASN][1000 genomes]
rs6434357	1.00[ASN][1000 genomes]
rs6434359	1.00[ASN][1000 genomes]
rs6434364	1.00[CHB][hapmap]
rs6434369	1.00[ASN][1000 genomes]
rs6706168	1.00[ASN][1000 genomes]
rs6709840	1.00[CHB][hapmap]
rs6723158	1.00[AMR][1000 genomes]
rs6725344	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6735135	1.00[ASN][1000 genomes]
rs6738444	1.00[ASN][1000 genomes]
rs7563275	1.00[ASN][1000 genomes]
rs7591672	1.00[CHB][hapmap]
rs7606224	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs893782	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893783	1.00[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930426	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190527000-190534800	Weak transcription	Lung	lung
2	chr2:190527400-190531600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:190527400-190532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:190527400-190532200	Weak transcription	Left Ventricle	heart
5	chr2:190527400-190533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190527400-190533600	Weak transcription	K562	blood
7	chr2:190527400-190537400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:190527400-190538400	Weak transcription	Pancreas	Pancrea
9	chr2:190527400-190538400	Weak transcription	Right Ventricle	heart
10	chr2:190527400-190538600	Weak transcription	Esophagus	oesophagus
11	chr2:190527400-190538600	Weak transcription	Gastric	stomach
12	chr2:190527400-190539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:190527600-190532000	Weak transcription	Aorta	Aorta
14	chr2:190527600-190532600	Weak transcription	Colonic Mucosa	Colon
15	chr2:190527600-190532600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:190527600-190532800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:190527600-190538600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:190527600-190538600	Weak transcription	Spleen	Spleen
19	chr2:190527600-190539200	Weak transcription	Small Intestine	intestine
20	chr2:190527800-190531600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:190527800-190531800	Weak transcription	Thymus	Thymus
22	chr2:190527800-190532200	Weak transcription	NHEK	skin
23	chr2:190527800-190532800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:190527800-190533000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:190527800-190538400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:190527800-190538400	Weak transcription	Psoas Muscle	Psoas
27	chr2:190527800-190538600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:190528000-190531600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:190528200-190537600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:190528200-190541600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:190528400-190532600	Weak transcription	Fetal Brain Male	brain
32	chr2:190528400-190536000	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:190528400-190537400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:190528600-190531600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:190528600-190531800	Weak transcription	Hela-S3	cervix
36	chr2:190528600-190532200	Weak transcription	Fetal Stomach	stomach
37	chr2:190528600-190538000	Weak transcription	Fetal Heart	heart
38	chr2:190528600-190539600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:190528800-190537000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:190529000-190536000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:190529000-190537000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:190529000-190537200	Strong transcription	Placenta	Placenta
43	chr2:190529000-190537800	Strong transcription	HSMM	muscle
44	chr2:190529200-190537200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr2:190529400-190531600	Weak transcription	Fetal Brain Female	brain
46	chr2:190529400-190535000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:190529400-190537200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:190529600-190531600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:190529600-190531800	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:190529600-190537000	Strong transcription	Primary B cells from peripheral blood	blood

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