Variant report

Variant	rs4761898
Chromosome Location	chr12:51761234-51761235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51735794..51738588-chr12:51760014..51762063,2	K562	blood:
2	chr12:51754295..51757629-chr12:51759740..51762921,4	K562	blood:
3	chr12:51759394..51761538-chr12:51814585..51816905,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10783434	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609991	0.92[EUR][1000 genomes]
rs2067763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3782470	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4761870	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4761881	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:51744200-51761400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:51745800-51763000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:51746200-51761400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:51746200-51762400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:51746200-51762600	Weak transcription	Colonic Mucosa	Colon
8	chr12:51746200-51762800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:51746800-51762600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:51747400-51762800	Strong transcription	NHEK	skin
11	chr12:51749000-51762000	Weak transcription	HUVEC	blood vessel
12	chr12:51751200-51783400	Weak transcription	Right Atrium	heart
13	chr12:51751600-51762400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:51752000-51762800	Weak transcription	Lung	lung
15	chr12:51752000-51765000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:51752800-51762600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:51752800-51765000	Weak transcription	Placenta	Placenta
18	chr12:51752800-51765200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:51753200-51762000	Weak transcription	GM12878-XiMat	blood
20	chr12:51753200-51781400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:51754200-51761400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:51754200-51764600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:51754400-51764600	Weak transcription	NHDF-Ad	bronchial
24	chr12:51754600-51763000	Weak transcription	Gastric	stomach
25	chr12:51755000-51765200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:51755600-51765000	Weak transcription	Esophagus	oesophagus
27	chr12:51755800-51762800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:51756200-51762800	Weak transcription	Pancreas	Pancrea
29	chr12:51756400-51762600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:51756600-51762800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:51756600-51765000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:51756800-51762600	Weak transcription	Stomach Mucosa	stomach
33	chr12:51757200-51762800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:51757200-51765400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:51757600-51762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:51757800-51762400	Weak transcription	K562	blood
37	chr12:51757800-51763600	Strong transcription	Fetal Stomach	stomach
38	chr12:51757800-51764200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr12:51757800-51765200	Weak transcription	Brain Anterior Caudate	brain
40	chr12:51758000-51761800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:51758000-51765400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:51758000-51765600	Weak transcription	Brain Angular Gyrus	brain
43	chr12:51758200-51762600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:51758200-51762600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:51758200-51762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:51758200-51764400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:51758200-51765200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:51758400-51762600	Weak transcription	Brain Substantia Nigra	brain
49	chr12:51758600-51762600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:51758800-51761400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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