Variant report

Variant	rs3737729
Chromosome Location	chr1:47182483-47182484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47181232..47184030-chr1:47190255..47192173,2	MCF-7	breast:
2	chr1:47157744..47160542-chr1:47181134..47183864,2	MCF-7	breast:
3	chr1:47091302..47093763-chr1:47181587..47183697,2	K562	blood:
4	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:
5	chr1:47160988..47163658-chr1:47182412..47184770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186118	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000233647	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10890409	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10890412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211334	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211339	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211340	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11211351	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1139759	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12026027	0.86[ASN][1000 genomes]
rs12029031	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12038572	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048954	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118483	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12138338	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12142631	0.82[EUR][1000 genomes]
rs12733214	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1440484	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2007344	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2218190	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2275380	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4660950	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4660957	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr1:47141400-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47154600-47183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:47159200-47182800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:47160800-47182600	Strong transcription	Placenta	Placenta
5	chr1:47161400-47182800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:47164400-47182800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:47166600-47182800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:47166600-47182800	Strong transcription	Fetal Thymus	thymus
9	chr1:47166800-47182600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:47166800-47182800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:47167000-47182800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:47167200-47182600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:47167600-47183400	Weak transcription	Aorta	Aorta
14	chr1:47172200-47183800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:47173200-47182800	Weak transcription	Fetal Heart	heart
16	chr1:47173200-47182800	Weak transcription	Psoas Muscle	Psoas
17	chr1:47173400-47182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:47173400-47182600	Weak transcription	Fetal Brain Male	brain
19	chr1:47176400-47182600	Strong transcription	Brain Hippocampus Middle	brain
20	chr1:47176800-47182800	Strong transcription	Osteobl	bone
21	chr1:47179000-47182600	Enhancers	Stomach Mucosa	stomach
22	chr1:47179000-47182800	Weak transcription	A549	lung
23	chr1:47179800-47182800	Weak transcription	HSMMtube	muscle
24	chr1:47180200-47182600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:47180600-47182600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:47180800-47182600	Genic enhancers	NHEK	skin
27	chr1:47181200-47182600	Genic enhancers	K562	blood
28	chr1:47181200-47182800	Weak transcription	Colonic Mucosa	Colon
29	chr1:47181400-47182600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:47181400-47182600	Weak transcription	Fetal Lung	lung
31	chr1:47181400-47182600	Weak transcription	HSMM	muscle
32	chr1:47181400-47182600	Weak transcription	NHLF	lung
33	chr1:47181400-47182800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:47181400-47182800	Weak transcription	Gastric	stomach
35	chr1:47181400-47183200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:47181600-47182600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:47181600-47182600	Weak transcription	NHDF-Ad	bronchial
38	chr1:47181600-47182800	Weak transcription	Ovary	ovary
39	chr1:47181800-47182600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:47181800-47183000	Weak transcription	Esophagus	oesophagus
41	chr1:47181800-47183000	Weak transcription	Left Ventricle	heart
42	chr1:47181800-47183000	Weak transcription	Pancreas	Pancrea
43	chr1:47181800-47183200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:47181800-47183200	Weak transcription	Fetal Intestine Large	intestine
45	chr1:47181800-47183400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:47181800-47183400	Weak transcription	Lung	lung
47	chr1:47182000-47182600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
48	chr1:47182000-47182800	Enhancers	Brain Angular Gyrus	brain
49	chr1:47182000-47182800	Enhancers	Brain Germinal Matrix	brain
50	chr1:47182000-47182800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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