Variant report

Variant	rs12729638
Chromosome Location	chr1:184120650-184120651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184018547..184021119-chr1:184118948..184121747,2	K562	blood:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1034477	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10797941	1.00[ASN][1000 genomes]
rs10911511	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11576332	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11582961	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11585756	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086203	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402790	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12403064	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12408961	0.94[ASN][1000 genomes]
rs12411231	0.94[ASN][1000 genomes]
rs12725276	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734950	0.88[ASN][1000 genomes]
rs12751711	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12759837	0.83[ASN][1000 genomes]
rs1409812	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1544080	1.00[CEU][hapmap]
rs16822379	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1926873	0.88[ASN][1000 genomes]
rs1991170	1.00[ASN][1000 genomes]
rs34010717	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34876045	0.88[ASN][1000 genomes]
rs35178058	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35514700	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35947721	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650654	1.00[ASN][1000 genomes]
rs56239295	0.88[ASN][1000 genomes]
rs58322431	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61477737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68130131	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053551	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765224	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs765225	1.00[JPT][hapmap];0.88[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12729638	C1orf19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184113000-184122000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:184114000-184125800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:184114600-184122000	Weak transcription	Fetal Brain Female	brain
4	chr1:184116800-184123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:184118800-184121600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:184119200-184121400	Enhancers	NHDF-Ad	bronchial
7	chr1:184119400-184120800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:184119400-184121600	Enhancers	NHLF	lung
9	chr1:184119600-184120800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:184119600-184120800	Enhancers	Osteobl	bone
11	chr1:184119600-184121000	Enhancers	HSMMtube	muscle
12	chr1:184119600-184121600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:184119600-184121600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:184119800-184121000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:184119800-184121600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:184119800-184121600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:184119800-184122000	Enhancers	Small Intestine	intestine
18	chr1:184120000-184120800	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:184120000-184120800	Enhancers	Esophagus	oesophagus
20	chr1:184120000-184120800	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:184120000-184121000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:184120000-184121000	Enhancers	Placenta	Placenta
23	chr1:184120000-184121000	Enhancers	Left Ventricle	heart
24	chr1:184120000-184121000	Enhancers	Lung	lung
25	chr1:184120000-184121400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:184120000-184121400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:184120000-184121600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:184120000-184121600	Enhancers	Fetal Stomach	stomach
29	chr1:184120000-184121600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:184120000-184122400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:184120200-184120800	Enhancers	Fetal Lung	lung
32	chr1:184120200-184120800	Enhancers	Right Ventricle	heart
33	chr1:184120200-184121200	Enhancers	Right Atrium	heart
34	chr1:184120200-184121400	Enhancers	Adipose Nuclei	Adipose
35	chr1:184120200-184121600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:184120200-184121600	Enhancers	Ovary	ovary
37	chr1:184120200-184122200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:184120200-184123400	Enhancers	Fetal Brain Male	brain
39	chr1:184120400-184121400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:184120400-184121400	Enhancers	Colonic Mucosa	Colon
41	chr1:184120400-184121400	Enhancers	Fetal Muscle Leg	muscle
42	chr1:184120400-184121400	Enhancers	HUVEC	blood vessel
43	chr1:184120400-184121600	Weak transcription	NH-A	brain
44	chr1:184120600-184120800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:184120600-184120800	Enhancers	Pancreas	Pancrea
46	chr1:184120600-184120800	Enhancers	Spleen	Spleen
47	chr1:184120600-184121000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:184120600-184121000	Enhancers	Colon Smooth Muscle	Colon
49	chr1:184120600-184121000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr1:184120600-184121000	Enhancers	Stomach Smooth Muscle	stomach

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