Variant report

Variant	rs188492
Chromosome Location	chr2:234774076-234774077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234768404..234771123-chr2:234772498..234774550,2	K562	blood:
2	chr2:234765045..234768392-chr2:234769046..234775688,6	K562	blood:
3	chr2:234773117..234776003-chr2:234811783..234814431,2	K562	blood:
4	chr2:234766693..234769626-chr2:234773837..234776124,2	MCF-7	breast:
5	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:
6	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
7	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:
8	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000234143	Chromatin interaction
ENSG00000242515	Chromatin interaction
ENSG00000241635	Chromatin interaction
ENSG00000243135	Chromatin interaction
ENSG00000072080	Chromatin interaction
ENSG00000185038	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11562979	0.94[ASN][1000 genomes]
rs11563228	0.97[ASN][1000 genomes]
rs13390819	0.97[ASN][1000 genomes]
rs13398248	0.90[ASN][1000 genomes]
rs13403318	0.97[ASN][1000 genomes]
rs13406453	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13406457	0.93[ASN][1000 genomes]
rs13410024	0.97[ASN][1000 genomes]
rs13410032	0.97[ASN][1000 genomes]
rs17862907	0.97[ASN][1000 genomes]
rs17862921	0.90[ASN][1000 genomes]
rs17863825	0.97[ASN][1000 genomes]
rs17863826	0.97[ASN][1000 genomes]
rs17863838	0.93[ASN][1000 genomes]
rs17864729	0.97[ASN][1000 genomes]
rs17864735	1.00[EUR][1000 genomes]
rs17864737	1.00[EUR][1000 genomes]
rs17868368	0.97[ASN][1000 genomes]
rs17868369	0.90[ASN][1000 genomes]
rs186159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213550	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173746	0.97[ASN][1000 genomes]
rs2173747	0.97[ASN][1000 genomes]
rs2530796	0.97[ASN][1000 genomes]
rs2650888	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28900974	1.00[YRI][hapmap]
rs494812	0.97[ASN][1000 genomes]
rs498680	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs498696	0.97[ASN][1000 genomes]
rs498786	0.90[ASN][1000 genomes]
rs498790	0.90[ASN][1000 genomes]
rs499703	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs501650	0.97[ASN][1000 genomes]
rs502321	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs506632	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs511387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531771	0.97[ASN][1000 genomes]
rs566985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575194	0.97[ASN][1000 genomes]
rs577734	0.97[ASN][1000 genomes]
rs577782	0.97[ASN][1000 genomes]
rs577820	0.97[ASN][1000 genomes]
rs579327	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs581377	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs596509	0.97[ASN][1000 genomes]
rs598759	0.90[ASN][1000 genomes]
rs598760	0.90[ASN][1000 genomes]
rs611131	0.97[ASN][1000 genomes]
rs611169	0.97[ASN][1000 genomes]
rs611563	0.97[ASN][1000 genomes]
rs622954	0.93[ASN][1000 genomes]
rs625151	0.97[ASN][1000 genomes]
rs628138	0.97[ASN][1000 genomes]
rs657658	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs658054	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs658607	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs672831	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6741751	0.93[ASN][1000 genomes]
rs685139	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs686003	0.90[ASN][1000 genomes]
rs686007	0.90[ASN][1000 genomes]
rs686802	1.00[JPT][hapmap]
rs688677	0.97[ASN][1000 genomes]
rs9646718	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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 lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234763600-234776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:234763800-234774600	Weak transcription	Placenta	Placenta
3	chr2:234763800-234774800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:234763800-234775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:234763800-234775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:234763800-234776600	Weak transcription	Right Ventricle	heart
7	chr2:234764000-234774400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234764000-234775200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:234764000-234776400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:234764000-234776600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234764000-234776600	Weak transcription	HUVEC	blood vessel
12	chr2:234764200-234774200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:234764200-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:234764200-234774600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:234764200-234774800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:234764200-234774800	Weak transcription	Osteobl	bone
17	chr2:234764200-234775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:234764200-234775200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:234764200-234776600	Weak transcription	Primary B cells from cord blood	blood
20	chr2:234764200-234776600	Weak transcription	Primary T cells from cord blood	blood
21	chr2:234764200-234776600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:234764200-234776600	Weak transcription	HMEC	breast
23	chr2:234764200-234776600	Weak transcription	NH-A	brain
24	chr2:234764200-234776600	Weak transcription	NHDF-Ad	bronchial
25	chr2:234764200-234776600	Weak transcription	NHEK	skin
26	chr2:234764200-234776800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:234764400-234774400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:234764400-234774400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:234764400-234774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:234764400-234775000	Weak transcription	NHLF	lung
31	chr2:234764400-234776400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:234764400-234776600	Weak transcription	HSMM	muscle
33	chr2:234767000-234776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:234767400-234774400	Weak transcription	K562	blood
35	chr2:234771200-234774400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:234771200-234774400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:234771200-234775000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:234771200-234776800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:234771400-234774200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:234771400-234774200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:234771400-234774400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:234771400-234774400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:234771400-234774800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:234771400-234775000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:234772600-234774400	Strong transcription	A549	lung
46	chr2:234772800-234774400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:234773000-234776000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:234773800-234776600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:234774000-234775200	Weak transcription	Gastric	stomach

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