Variant report

Variant	rs73774357
Chromosome Location	chr5:95998472-95998473
allele	A/G
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	KAP1	chr5:95998210-95999298	HEK293	kidney:	n/a	n/a
2	BACH1	chr5:95998314-95998577	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:95997074-95999126	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:95997469-95999013	HUVEC	blood vessel:	n/a	n/a
5	ZEB1	chr5:95997614-95998985	GM12878	blood:	n/a	n/a
6	TCF7L2	chr5:95997682-95999229	HCT-116	colon:	n/a	n/a
7	CEBPB	chr5:95998464-95998889	Hela-S3	cervix:	n/a	n/a
8	MAX	chr5:95997246-95999260	GM12878	blood:	n/a	chr5:95998429-95998439
9	MXI1	chr5:95997594-95999218	HepG2	liver:	n/a	n/a
10	ZKSCAN1	chr5:95998347-95999004	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:95997408-95998995	SK-N-SH	brain:	n/a	n/a
12	CHD2	chr5:95997732-95999130	H1-hESC	embryonic stem cell:	n/a	chr5:95998645-95998655
13	POLR2A	chr5:95997181-95998869	GM10847	blood:	n/a	n/a
14	POLR2A	chr5:95996922-95999127	U87	brain:	n/a	n/a
15	POLR2A	chr5:95997088-95999042	GM12892	blood:	n/a	n/a
16	TAF1	chr5:95998331-95998867	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:95997538-95999151	A549	lung:	n/a	n/a
18	MYC	chr5:95998213-95999149	MCF10A-Er-Src	breast:	n/a	chr5:95998429-95998439
19	POLR2A	chr5:95998278-95998902	SK-N-MC	brain:	n/a	n/a
20	ELF1	chr5:95998297-95999208	MCF-7	breast:	n/a	n/a
21	EP300	chr5:95998453-95998572	HepG2	liver:	n/a	n/a
22	TBP	chr5:95998449-95998785	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:95997497-95999098	A549	lung:	n/a	n/a
24	POLR2A	chr5:95997205-95999137	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr5:95997411-95999041	HUVEC	blood vessel:	n/a	n/a
26	TCF3	chr5:95997608-95999066	GM12878	blood:	n/a	chr5:95998365-95998379 chr5:95998355-95998369
27	SIN3A	chr5:95997094-95999563	H1-hESC	embryonic stem cell:	n/a	chr5:95998255-95998263
28	TCF7L2	chr5:95997589-95998699	PANC-1	pancreas:	n/a	n/a
29	SMARCB1	chr5:95997515-95999484	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:95997011-95998992	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:95997181-95998975	GM19193	blood:	n/a	n/a
32	PML	chr5:95996977-95999197	GM12878	blood:	n/a	chr5:95997154-95997162
33	EBF1	chr5:95998077-95999064	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:95997043-95998988	U87	brain:	n/a	n/a
35	POLR2A	chr5:95997504-95999144	GM12878	blood:	n/a	n/a
36	RAD21	chr5:95998365-95999342	ECC-1	luminal epithelium:	n/a	chr5:95999055-95999064
37	CTBP2	chr5:95997583-95999524	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr5:95998403-95998866	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr5:95997413-95998938	PANC-1	pancreas:	n/a	n/a
40	CREB1	chr5:95998399-95999278	H1-hESC	embryonic stem cell:	n/a	n/a
41	HDAC2	chr5:95997502-95999375	MCF-7	breast:	n/a	n/a
42	NRF1	chr5:95998326-95999390	SK-N-SH	brain:	n/a	chr5:95999083-95999097
43	POLR2A	chr5:95997443-95999277	ECC-1	luminal epithelium:	n/a	n/a
44	NFIC	chr5:95998270-95998686	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:95996986-95999052	Raji	blood:	n/a	n/a
46	POLR2A	chr5:95997531-95999211	A549	lung:	n/a	n/a
47	RUNX3	chr5:95998356-95999274	GM12878	blood:	n/a	n/a
48	HEY1	chr5:95998303-95998805	HepG2	liver:	n/a	chr5:95998308-95998323 chr5:95998310-95998325 chr5:95998660-95998675
49	ELF1	chr5:95997037-95999157	GM12878	blood:	n/a	n/a
50	TAF1	chr5:95998424-95999033	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:73160094..73160633-chr5:95997956..95998645,2	Hela-S3	cervix:
2	chr5:95997693..95999480-chr5:96036950..96039552,2	MCF-7	breast:
3	chr5:95997114..95998690-chr5:96269799..96271534,2	MCF-7	breast:
4	chr5:95997662..95998660-chr5:180649712..180650331,2	Hela-S3	cervix:
5	chr3:50273419..50274190-chr5:95998170..95998990,2	HCT-116	colon:
6	chr14:105444254..105445137-chr5:95998330..95998953,2	Hela-S3	cervix:

Variant related genes	Relation type
CAST	TF binding region
ENSG00000223247	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000185567	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000146063	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55959916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56843965	0.80[AFR][1000 genomes]
rs57861617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58728530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59380160	0.80[AFR][1000 genomes]
rs73774353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774354	0.86[AFR][1000 genomes]
rs73774355	0.80[AFR][1000 genomes]
rs73774358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774360	0.86[AFR][1000 genomes]
rs73774361	0.86[AFR][1000 genomes]
rs73774362	0.86[AFR][1000 genomes]
rs73774364	0.86[AFR][1000 genomes]
rs73774367	0.84[AFR][1000 genomes]
rs73774369	0.84[AFR][1000 genomes]
rs73774375	0.84[AFR][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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr5:95996600-95999000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:95996600-95999400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr5:95996600-95999400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:95996600-95999600	Active TSS	Brain Hippocampus Middle	brain
5	chr5:95996800-95998800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:95996800-95998800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:95996800-95999000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:95996800-95999000	Active TSS	Duodenum Mucosa	Duodenum
9	chr5:95996800-95999000	Active TSS	Rectal Smooth Muscle	rectum
10	chr5:95996800-95999200	Active TSS	Brain Angular Gyrus	brain
11	chr5:95996800-95999200	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:95996800-95999200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:95996800-95999200	Active TSS	Colonic Mucosa	Colon
14	chr5:95996800-95999200	Active TSS	Colon Smooth Muscle	Colon
15	chr5:95996800-95999200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:95996800-95999200	Active TSS	Left Ventricle	heart
17	chr5:95996800-95999200	Active TSS	Right Ventricle	heart
18	chr5:95996800-95999200	Active TSS	NHDF-Ad	bronchial
19	chr5:95996800-95999400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr5:95996800-95999400	Active TSS	Ovary	ovary
21	chr5:95996800-95999600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:95996800-95999600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:95996800-95999600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:95996800-95999600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:95996800-95999600	Active TSS	Aorta	Aorta
26	chr5:95996800-95999600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr5:95996800-95999600	Active TSS	Psoas Muscle	Psoas
28	chr5:95996800-95999600	Active TSS	Right Atrium	heart
29	chr5:95996800-95999600	Active TSS	HSMMtube	muscle
30	chr5:95996800-95999800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:95996800-96000200	Active TSS	A549	lung
32	chr5:95996800-96000200	Active TSS	NHLF	lung
33	chr5:95997000-95998800	Active TSS	H1 Cell Line	embryonic stem cell
34	chr5:95997000-95998800	Active TSS	Primary B cells from peripheral blood	blood
35	chr5:95997000-95998800	Active TSS	Placenta	Placenta
36	chr5:95997000-95998800	Active TSS	Thymus	Thymus
37	chr5:95997000-95999000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr5:95997000-95999000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:95997000-95999000	Active TSS	Primary T cells from cord blood	blood
40	chr5:95997000-95999000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:95997000-95999000	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr5:95997000-95999000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:95997000-95999000	Active TSS	Fetal Heart	heart
44	chr5:95997000-95999000	Active TSS	Fetal Lung	lung
45	chr5:95997000-95999000	Active TSS	Pancreas	Pancrea
46	chr5:95997000-95999200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:95997000-95999200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:95997000-95999200	Active TSS	Brain Anterior Caudate	brain
49	chr5:95997000-95999200	Active TSS	Fetal Intestine Large	intestine
50	chr5:95997000-95999200	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links