Variant report

Variant	rs402811
Chromosome Location	chr12:120200933-120200934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120198522..120201175-chr12:120201440..120203059,2	K562	blood:
2	chr12:120192773..120194495-chr12:120199423..120201560,2	MCF-7	breast:
3	chr12:120197756..120201028-chr12:120204910..120208233,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10129003	0.83[ASN][1000 genomes]
rs1122119	0.81[ASN][1000 genomes]
rs1318272	0.82[ASN][1000 genomes]
rs175877	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs175879	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs202984	0.98[ASN][1000 genomes]
rs202985	0.86[ASN][1000 genomes]
rs203326	0.83[ASN][1000 genomes]
rs203327	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203328	0.94[ASN][1000 genomes]
rs2074052	0.86[ASN][1000 genomes]
rs2285595	0.84[ASN][1000 genomes]
rs278103	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs278109	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs278111	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs278115	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs278117	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278118	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs278128	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278129	0.86[ASN][1000 genomes]
rs278130	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278131	0.86[ASN][1000 genomes]
rs278132	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278135	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs278137	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278139	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278142	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2936830	0.85[ASN][1000 genomes]
rs2936831	0.85[ASN][1000 genomes]
rs2996027	0.85[ASN][1000 genomes]
rs2996028	0.85[ASN][1000 genomes]
rs2996030	0.85[ASN][1000 genomes]
rs3213625	0.85[ASN][1000 genomes]
rs3213626	0.84[ASN][1000 genomes]
rs3956827	0.82[ASN][1000 genomes]
rs404447	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766946	0.85[ASN][1000 genomes]
rs7131914	0.83[ASN][1000 genomes]
rs7299963	0.85[ASN][1000 genomes]
rs904654	0.81[ASN][1000 genomes]
rs904655	0.82[ASN][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	esv3360112	chr12:120200350-120201098	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
2	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
3	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
5	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:120156600-120221400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:120172200-120218600	Weak transcription	Fetal Kidney	kidney
9	chr12:120177600-120205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:120178200-120205200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:120178400-120202200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:120184000-120207600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:120184200-120202400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:120184200-120224600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:120184400-120205200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:120184800-120205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:120185400-120227200	Strong transcription	Dnd41	blood
18	chr12:120185600-120201000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:120185600-120202200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:120185800-120201400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:120185800-120201600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:120185800-120202000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:120185800-120202400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:120185800-120214800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:120186000-120201200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:120186000-120202000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:120186000-120202400	Strong transcription	A549	lung
28	chr12:120186000-120214600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:120186200-120205200	Strong transcription	Fetal Thymus	thymus
30	chr12:120186600-120202000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:120187200-120209200	Weak transcription	Placenta	Placenta
32	chr12:120187600-120218600	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:120187800-120211200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:120188000-120228800	Weak transcription	HSMMtube	muscle
35	chr12:120188400-120205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:120188400-120210600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:120189400-120225600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:120189800-120201200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:120189800-120201400	Strong transcription	Fetal Stomach	stomach
40	chr12:120190000-120204800	Weak transcription	Esophagus	oesophagus
41	chr12:120190000-120244800	Weak transcription	Primary B cells from cord blood	blood
42	chr12:120190200-120210400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:120190200-120226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:120191200-120235600	Weak transcription	Colonic Mucosa	Colon
45	chr12:120191800-120201200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:120192200-120207800	Weak transcription	HSMM	muscle
47	chr12:120192400-120201800	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:120192600-120202400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:120193400-120205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:120193800-120201200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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