Variant report

Variant	rs12737779
Chromosome Location	chr1:184424592-184424593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184424018..184426734-chr1:184430772..184432362,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10399840	0.96[AFR][1000 genomes]
rs10489724	0.88[AFR][1000 genomes]
rs10489725	0.88[AFR][1000 genomes]
rs10489726	0.87[AFR][1000 genomes]
rs12067483	0.92[AFR][1000 genomes]
rs12082456	0.94[EUR][1000 genomes]
rs12128343	0.86[ASN][1000 genomes]
rs12138263	0.86[ASN][1000 genomes]
rs12735278	0.82[EUR][1000 genomes]
rs12743066	0.84[EUR][1000 genomes]
rs12743488	0.84[EUR][1000 genomes]
rs12756084	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756319	0.94[EUR][1000 genomes]
rs13374607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13374609	0.96[EUR][1000 genomes]
rs13375073	0.91[AFR][1000 genomes]
rs1535133	0.92[AFR][1000 genomes]
rs1547606	0.96[AFR][1000 genomes]
rs1547608	0.90[EUR][1000 genomes]
rs16823210	0.95[AFR][1000 genomes]
rs16823213	0.95[AFR][1000 genomes]
rs34072105	0.88[EUR][1000 genomes]
rs34282348	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34312759	0.92[EUR][1000 genomes]
rs34427261	0.88[EUR][1000 genomes]
rs34501687	1.00[ASN][1000 genomes]
rs34579903	0.96[EUR][1000 genomes]
rs34591137	0.90[EUR][1000 genomes]
rs34712320	0.90[EUR][1000 genomes]
rs34946851	0.94[EUR][1000 genomes]
rs35021091	0.80[EUR][1000 genomes]
rs35040136	0.94[EUR][1000 genomes]
rs35350002	0.84[EUR][1000 genomes]
rs35414247	0.88[EUR][1000 genomes]
rs35430213	0.88[EUR][1000 genomes]
rs35901887	0.90[EUR][1000 genomes]
rs35964209	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41263668	0.86[ASN][1000 genomes]
rs4466608	0.90[EUR][1000 genomes]
rs4650668	0.84[EUR][1000 genomes]
rs4651207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4651212	0.94[EUR][1000 genomes]
rs56275815	0.86[ASN][1000 genomes]
rs59559266	0.86[ASN][1000 genomes]
rs66916459	0.94[EUR][1000 genomes]
rs68189478	0.95[AFR][1000 genomes]
rs71634106	0.86[EUR][1000 genomes]
rs71634108	0.92[EUR][1000 genomes]
rs71634109	0.92[EUR][1000 genomes]
rs9970629	0.94[EUR][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	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
2	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
6	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:184419400-184426000	Weak transcription	HMEC	breast
9	chr1:184419600-184426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:184419600-184426600	Weak transcription	Right Atrium	heart
11	chr1:184419600-184426800	Weak transcription	NHEK	skin
12	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
14	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:184419800-184426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:184421400-184427400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:184421400-184433000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:184421600-184425800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:184421800-184426800	Weak transcription	Pancreas	Pancrea
20	chr1:184422000-184427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:184422400-184426600	Weak transcription	Esophagus	oesophagus
22	chr1:184422600-184426600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:184422600-184426800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:184422800-184426000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:184423000-184428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:184423000-184431200	Weak transcription	Fetal Intestine Small	intestine
27	chr1:184423200-184426400	Weak transcription	Fetal Lung	lung
28	chr1:184423200-184426800	Weak transcription	Stomach Mucosa	stomach
29	chr1:184423200-184427400	Enhancers	Psoas Muscle	Psoas
30	chr1:184423600-184424600	Enhancers	NHLF	lung
31	chr1:184423600-184425400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:184423600-184425400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:184423800-184424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:184423800-184425400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:184423800-184426600	Weak transcription	Fetal Stomach	stomach
36	chr1:184423800-184426800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:184424000-184425400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:184424000-184425800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:184424000-184426400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:184424000-184426600	Weak transcription	Left Ventricle	heart
41	chr1:184424000-184426600	Weak transcription	Lung	lung
42	chr1:184424000-184430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:184424000-184436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:184424200-184425000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:184424200-184426200	Enhancers	Colon Smooth Muscle	Colon
46	chr1:184424400-184424800	Enhancers	Small Intestine	intestine
47	chr1:184424400-184425000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:184424400-184425800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:184424400-184426000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:184424400-184426000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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