Variant report

Variant	rs150380
Chromosome Location	chr5:36880871-36880872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:36880790-36881231	K562	blood:	n/a	n/a
2	JUN	chr5:36880567-36880971	K562	blood:	n/a	n/a
3	ATF3	chr5:36880793-36881181	K562	blood:	n/a	n/a
4	TEAD4	chr5:36880744-36881287	K562	blood:	n/a	n/a
5	ARID3A	chr5:36880541-36881243	K562	blood:	n/a	n/a
6	EP300	chr5:36880706-36881233	K562	blood:	n/a	chr5:36880960-36880974
7	MAX	chr5:36880757-36881174	K562	blood:	n/a	n/a
8	POLR2A	chr5:36880711-36880953	MCF10A-Er-Src	breast:	n/a	n/a
9	TBL1XR1	chr5:36880752-36881241	K562	blood:	n/a	n/a
10	KAP1	chr5:36880808-36881572	K562	blood:	n/a	n/a
11	CEBPB	chr5:36880788-36881199	K562	blood:	n/a	n/a
12	CEBPB	chr5:36880824-36881177	Hela-S3	cervix:	n/a	n/a
13	JUND	chr5:36880649-36881500	K562	blood:	n/a	n/a
14	CEBPB	chr5:36880769-36881154	K562	blood:	n/a	n/a
15	CEBPB	chr5:36880836-36881086	IMR90	lung:	n/a	n/a
16	CEBPB	chr5:36880822-36881122	K562	blood:	n/a	n/a
17	MYC	chr5:36880830-36881240	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36880295..36881992-chr5:36884988..36887365,2	MCF-7	breast:
2	chr5:36878820..36881398-chr5:36921398..36924147,2	K562	blood:

No data

Variant related genes	Relation type
KRT18P31	TF binding region
ENSG00000249850	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12657771	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13158310	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13170811	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13176880	0.85[EUR][1000 genomes]
rs13180309	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1466862	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151944	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs158622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158623	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158624	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs159749	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs159751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs159753	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159913	0.89[EUR][1000 genomes]
rs168662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs184182	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs186173	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs188488	0.86[AMR][1000 genomes]
rs188541	0.88[EUR][1000 genomes]
rs292172	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs292182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292183	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs292184	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs292195	1.00[CEU][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs296962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300049	0.85[EUR][1000 genomes]
rs300051	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs300053	0.87[EUR][1000 genomes]
rs300055	0.88[EUR][1000 genomes]
rs300058	0.89[EUR][1000 genomes]
rs300060	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300061	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300063	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300064	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs300065	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301859	0.88[EUR][1000 genomes]
rs301901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs301917	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3104057	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs388098	0.88[EUR][1000 genomes]
rs6875748	0.90[EUR][1000 genomes]
rs6899155	0.89[EUR][1000 genomes];0.90[ASN][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36872800-36881400	Active TSS	GM12878-XiMat	blood
2	chr5:36874800-36881000	Active TSS	K562	blood
3	chr5:36875000-36881000	Active TSS	HMEC	breast
4	chr5:36877800-36885400	Weak transcription	Spleen	Spleen
5	chr5:36878400-36881200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:36878600-36881200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:36878800-36881800	Enhancers	Fetal Heart	heart
8	chr5:36878800-36885400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:36879000-36881000	Enhancers	Brain Substantia Nigra	brain
10	chr5:36879000-36885600	Weak transcription	Placenta	Placenta
11	chr5:36879200-36881400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:36879200-36882400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:36879200-36882400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:36879200-36883400	Enhancers	Colon Smooth Muscle	Colon
15	chr5:36879200-36885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:36879200-36885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:36879200-36885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:36879200-36885200	Weak transcription	Gastric	stomach
19	chr5:36879200-36885200	Weak transcription	Pancreas	Pancrea
20	chr5:36879200-36885400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:36879200-36885400	Weak transcription	Esophagus	oesophagus
22	chr5:36879200-36885400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:36879200-36885400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:36879200-36885600	Weak transcription	Colonic Mucosa	Colon
25	chr5:36879200-36885800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:36879200-36885800	Weak transcription	Small Intestine	intestine
27	chr5:36879200-36889400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:36879400-36881000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:36879400-36881000	Weak transcription	Aorta	Aorta
30	chr5:36879400-36881000	Weak transcription	Ovary	ovary
31	chr5:36879400-36881200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr5:36879400-36881800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:36879400-36882800	Enhancers	Hela-S3	cervix
34	chr5:36879400-36883000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:36879400-36883000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr5:36879400-36883200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr5:36879400-36883400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:36879400-36883600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:36879400-36883600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr5:36879400-36885200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:36879400-36885200	Weak transcription	Fetal Thymus	thymus
42	chr5:36879400-36885400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:36879400-36885400	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:36879400-36885400	Weak transcription	Fetal Stomach	stomach
45	chr5:36879400-36885400	Weak transcription	Right Ventricle	heart
46	chr5:36879400-36885600	Weak transcription	HSMM	muscle
47	chr5:36879400-36885800	Weak transcription	Psoas Muscle	Psoas
48	chr5:36879400-36887400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr5:36879600-36881200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:36879600-36883600	Enhancers	Primary B cells from cord blood	blood

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