Variant report

Variant	rs152398
Chromosome Location	chr5:115180416-115180417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:115180133-115180525	HepG2	liver:	n/a	n/a
2	USF1	chr5:115180279-115180447	HepG2	liver:	n/a	n/a
3	MXI1	chr5:115180208-115180519	HepG2	liver:	n/a	n/a
4	TBP	chr5:115180312-115180440	HepG2	liver:	n/a	n/a
5	RCOR1	chr5:115180256-115180727	HepG2	liver:	n/a	n/a
6	MAFF	chr5:115180291-115180565	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:115179872-115181311	HCT-116	colon:	n/a	n/a
8	BHLHE40	chr5:115180161-115180604	HepG2	liver:	n/a	n/a
9	EP300	chr5:115180288-115180602	HepG2	liver:	n/a	chr5:115180507-115180514
10	FOXA1	chr5:115180214-115180482	HepG2	liver:	n/a	n/a
11	TCF7L2	chr5:115179960-115180625	HEK293	kidney:	n/a	n/a
12	USF2	chr5:115180311-115180459	HepG2	liver:	n/a	n/a
13	TEAD4	chr5:115180205-115180517	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr5:115180270-115180508	HepG2	liver:	n/a	n/a
15	TEAD4	chr5:115180116-115180705	HepG2	liver:	n/a	n/a
16	JUND	chr5:115180271-115180471	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:115180157-115180457	HepG2	liver:	n/a	n/a
18	FOXA1	chr5:115180148-115180538	HepG2	liver:	n/a	n/a
19	EP300	chr5:115180213-115180611	HepG2	liver:	n/a	chr5:115180507-115180514
20	TCF7L2	chr5:115180070-115180620	PANC-1	pancreas:	n/a	n/a
21	TCF7L2	chr5:115179876-115180655	HepG2	liver:	n/a	n/a
22	MYC	chr5:115180411-115180419	HepG2	liver:	n/a	n/a
23	MAX	chr5:115180133-115180630	HepG2	liver:	n/a	n/a
24	MAX	chr5:115180086-115180679	HepG2	liver:	n/a	n/a
25	FOXA1	chr5:115180096-115180588	HepG2	liver:	n/a	n/a
26	MAX	chr5:115180264-115180524	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115180395..115183279-chr5:115183333..115187218,5	K562	blood:

No data

Variant related genes	Relation type
ATG12	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10039749	0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10050876	0.84[ASN][1000 genomes]
rs10434761	0.80[ASN][1000 genomes]
rs1058600	0.83[ASN][1000 genomes]
rs10751460	0.96[ASN][1000 genomes]
rs11241336	0.98[ASN][1000 genomes]
rs11241337	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12188972	0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs12332653	0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12513891	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12514553	0.97[ASN][1000 genomes]
rs12517882	0.98[ASN][1000 genomes]
rs12519850	0.90[ASN][1000 genomes]
rs12520248	0.80[ASN][1000 genomes]
rs12520442	0.90[ASN][1000 genomes]
rs12523122	0.90[ASN][1000 genomes]
rs13157716	0.98[ASN][1000 genomes]
rs13179199	0.93[ASN][1000 genomes]
rs13361489	0.93[ASN][1000 genomes]
rs152368	0.90[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs152369	0.98[ASN][1000 genomes]
rs152397	0.90[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs171809	0.84[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2080902	0.98[ASN][1000 genomes]
rs26529	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26533	0.82[ASN][1000 genomes]
rs26534	0.83[ASN][1000 genomes]
rs26535	0.83[ASN][1000 genomes]
rs26536	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs26537	0.91[CEU][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26538	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34851	0.81[ASN][1000 genomes]
rs34852	0.81[ASN][1000 genomes]
rs35179959	0.83[ASN][1000 genomes]
rs35238578	0.92[ASN][1000 genomes]
rs35501287	0.99[ASN][1000 genomes]
rs35903246	0.81[ASN][1000 genomes]
rs3797565	0.90[ASN][1000 genomes]
rs3797567	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs3797568	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3797569	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3797570	0.82[ASN][1000 genomes]
rs40095	0.81[ASN][1000 genomes]
rs41332950	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4143542	0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs57633641	0.81[ASN][1000 genomes]
rs58463583	0.84[ASN][1000 genomes]
rs59750231	0.98[ASN][1000 genomes]
rs61381571	0.99[ASN][1000 genomes]
rs6594906	0.81[ASN][1000 genomes]
rs6872406	0.81[ASN][1000 genomes]
rs6879485	0.96[ASN][1000 genomes]
rs6880372	0.88[ASN][1000 genomes]
rs6880889	0.82[ASN][1000 genomes]
rs71581217	0.90[ASN][1000 genomes]
rs7707539	0.96[ASN][1000 genomes]
rs7713314	0.99[ASN][1000 genomes]
rs7726368	0.81[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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3410990	chr5:115177597-115205832	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3382194	chr5:115177673-115205801	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115176400-115180800	Active TSS	Aorta	Aorta
2	chr5:115178600-115180600	Flanking Active TSS	HUVEC	blood vessel
3	chr5:115178600-115180800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:115178600-115183000	Weak transcription	Lung	lung
5	chr5:115178600-115192200	Weak transcription	Gastric	stomach
6	chr5:115178800-115192200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:115179000-115180600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:115179000-115180600	Active TSS	Brain Anterior Caudate	brain
9	chr5:115179000-115180600	Enhancers	Colonic Mucosa	Colon
10	chr5:115179000-115180600	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:115179000-115180600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:115179000-115183400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:115179000-115183600	Weak transcription	Fetal Intestine Large	intestine
14	chr5:115179000-115184400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:115179000-115185200	Weak transcription	Spleen	Spleen
16	chr5:115179000-115185400	Weak transcription	Brain Angular Gyrus	brain
17	chr5:115179000-115189600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:115179000-115194800	Weak transcription	HSMMtube	muscle
19	chr5:115179200-115180600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:115179200-115180600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:115179200-115180600	Enhancers	Brain Hippocampus Middle	brain
22	chr5:115179200-115181200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:115179200-115181200	Enhancers	Fetal Heart	heart
24	chr5:115179200-115181200	Enhancers	Dnd41	blood
25	chr5:115179200-115181200	Enhancers	K562	blood
26	chr5:115179200-115181400	Enhancers	Brain Germinal Matrix	brain
27	chr5:115179400-115180600	Enhancers	Fetal Muscle Leg	muscle
28	chr5:115179400-115180800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:115179400-115181400	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:115179400-115186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:115179400-115186400	Weak transcription	NHLF	lung
32	chr5:115179400-115192200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:115179600-115181400	Enhancers	Liver	Liver
34	chr5:115179600-115181400	Enhancers	Fetal Lung	lung
35	chr5:115179600-115182000	Enhancers	Left Ventricle	heart
36	chr5:115179600-115185000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:115179600-115185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:115179600-115185400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:115179600-115186400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:115179800-115180600	Enhancers	Stomach Mucosa	stomach
41	chr5:115179800-115180600	Enhancers	Hela-S3	cervix
42	chr5:115179800-115180600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:115179800-115180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:115179800-115180800	Enhancers	Psoas Muscle	Psoas
45	chr5:115179800-115181000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr5:115179800-115181000	Flanking Active TSS	Fetal Brain Female	brain
47	chr5:115179800-115181200	Flanking Active TSS	HepG2	liver
48	chr5:115179800-115182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:115179800-115185000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr5:115179800-115185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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