Variant report

Variant	rs12129054
Chromosome Location	chr1:179088926-179088927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179087656..179089573-chr1:179206533..179209251,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10913700	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913704	0.83[AMR][1000 genomes]
rs11584312	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11584705	1.00[ASN][1000 genomes]
rs11589113	1.00[ASN][1000 genomes]
rs12120194	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12122267	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12126360	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12127868	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs12128447	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12132268	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12133704	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133855	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12134611	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12140256	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1318056	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490311	1.00[ASN][1000 genomes]
rs16853640	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28913570	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28913877	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28914503	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914510	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56949555	1.00[ASN][1000 genomes]
rs57903944	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038859	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038874	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038878	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044740	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044744	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044747	0.83[AMR][1000 genomes]
rs73044749	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044753	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044761	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044765	0.83[AMR][1000 genomes]
rs73044767	0.83[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	nsv1002511	chr1:179077914-179089842	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179053200-179096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:179059200-179096400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:179059400-179090400	Strong transcription	HUVEC	blood vessel
4	chr1:179061400-179090400	Strong transcription	HSMM	muscle
5	chr1:179063200-179112000	Weak transcription	Fetal Kidney	kidney
6	chr1:179064800-179097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:179071400-179090400	Strong transcription	NHDF-Ad	bronchial
8	chr1:179072000-179090400	Strong transcription	Osteobl	bone
9	chr1:179072200-179090000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:179074200-179091000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:179075200-179091200	Strong transcription	NHLF	lung
12	chr1:179075400-179091000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:179075400-179091400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:179075400-179096200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:179075600-179089200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:179075800-179089600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:179076000-179090400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:179076200-179093400	Strong transcription	Fetal Stomach	stomach
19	chr1:179076400-179090400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:179076400-179090400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:179076600-179090000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:179076600-179092800	Strong transcription	NH-A	brain
23	chr1:179077200-179090600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr1:179077400-179090200	Weak transcription	GM12878-XiMat	blood
25	chr1:179077600-179094000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:179077800-179091000	Strong transcription	Adipose Nuclei	Adipose
27	chr1:179078000-179091200	Strong transcription	HSMMtube	muscle
28	chr1:179078200-179090600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:179078600-179097600	Weak transcription	Stomach Mucosa	stomach
30	chr1:179079600-179109800	Weak transcription	Small Intestine	intestine
31	chr1:179080000-179089000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:179080000-179090400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:179080000-179090800	Weak transcription	Fetal Heart	heart
34	chr1:179080000-179090800	Weak transcription	Pancreas	Pancrea
35	chr1:179080000-179097800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:179080000-179097800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:179080000-179098600	Weak transcription	Esophagus	oesophagus
38	chr1:179080200-179095800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:179080200-179101600	Weak transcription	Fetal Brain Male	brain
40	chr1:179080400-179103800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:179080800-179098400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:179080800-179099000	Weak transcription	Colonic Mucosa	Colon
43	chr1:179080800-179099000	Weak transcription	Spleen	Spleen
44	chr1:179081600-179090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:179083200-179090800	Strong transcription	Fetal Brain Female	brain
46	chr1:179084000-179093200	Strong transcription	Fetal Intestine Large	intestine
47	chr1:179084600-179089000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:179084600-179089200	Strong transcription	Left Ventricle	heart
49	chr1:179085000-179089400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:179085000-179091000	Strong transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links