Variant report

Variant	rs12733214
Chromosome Location	chr1:47126627-47126628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:47126522-47126667	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47126136..47128149-chr1:47129414..47131202,2	K562	blood:
2	chr1:47126136..47129004-chr1:47129301..47131202,4	K562	blood:
3	chr1:47124121..47126688-chr1:47131484..47133286,2	K562	blood:
4	chr1:47124455..47128063-chr1:47131072..47135010,3	MCF-7	breast:
5	chr1:47125032..47127467-chr1:47178869..47180403,2	K562	blood:

Variant related genes	Relation type
ATPAF1	TF binding region
ENSG00000123472	Chromatin interaction
ENSG00000233647	Chromatin interaction
ENSG00000186118	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	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890412	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10890413	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211339	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211340	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211351	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1139759	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026027	0.83[ASN][1000 genomes]
rs12029031	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12038572	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12048954	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12118483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12138338	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12142631	0.81[EUR][1000 genomes]
rs1440484	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007344	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2218190	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275380	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737729	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4660950	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4660957	0.92[AFR][1000 genomes];0.83[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	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2373510	chr1:47126626-47126627	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:47101600-47130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:47103000-47132800	Weak transcription	Spleen	Spleen
5	chr1:47105000-47132800	Weak transcription	Stomach Mucosa	stomach
6	chr1:47109400-47129800	Weak transcription	Pancreas	Pancrea
7	chr1:47109400-47132600	Weak transcription	Hela-S3	cervix
8	chr1:47109600-47132600	Weak transcription	HMEC	breast
9	chr1:47112400-47126800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:47115600-47133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:47115800-47132000	Weak transcription	Fetal Heart	heart
12	chr1:47116000-47127400	Weak transcription	Fetal Stomach	stomach
13	chr1:47116000-47130000	Weak transcription	Lung	lung
14	chr1:47116000-47130600	Weak transcription	Esophagus	oesophagus
15	chr1:47116000-47131800	Weak transcription	Aorta	Aorta
16	chr1:47116600-47130000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:47116600-47131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:47117600-47127200	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:47117600-47127600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:47117600-47127600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:47118000-47132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:47118200-47130000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:47119000-47132400	Weak transcription	A549	lung
24	chr1:47119200-47132400	Weak transcription	Small Intestine	intestine
25	chr1:47120000-47127400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:47121000-47129400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:47121000-47133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:47122000-47129800	Weak transcription	Colonic Mucosa	Colon
29	chr1:47122000-47130000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:47122200-47130000	Weak transcription	NHEK	skin
31	chr1:47122200-47131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:47122400-47132000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr1:47122600-47132200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:47122600-47133000	Weak transcription	Gastric	stomach
35	chr1:47122800-47129200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:47122800-47129400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:47122800-47129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:47122800-47130000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:47122800-47130000	Weak transcription	Brain Germinal Matrix	brain
40	chr1:47122800-47130000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:47122800-47132000	Weak transcription	NHLF	lung
42	chr1:47122800-47132200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:47123000-47129800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:47123600-47129400	Weak transcription	Fetal Brain Female	brain
45	chr1:47123600-47129800	Weak transcription	NHDF-Ad	bronchial
46	chr1:47123600-47131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:47123600-47132600	Weak transcription	HUVEC	blood vessel
48	chr1:47123600-47133000	Weak transcription	HSMMtube	muscle
49	chr1:47123800-47129400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:47123800-47129800	Weak transcription	K562	blood

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