Variant report

Variant	rs773701
Chromosome Location	chr5:14286306-14286307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14286211-14286768	PANC-1	pancreas:	n/a	n/a
2	BHLHE40	chr5:14286206-14286416	GM12878	blood:	n/a	n/a
3	ZNF384	chr5:14286105-14286340	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:14286022-14286386	GM12878	blood:	n/a	n/a
5	RUNX3	chr5:14286156-14286567	GM12878	blood:	n/a	n/a
6	EP300	chr5:14286245-14286417	GM12878	blood:	n/a	n/a
7	MXI1	chr5:14286299-14286421	GM12878	blood:	n/a	n/a
8	CHD2	chr5:14286238-14286350	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14286263-14286313	PFSK-1	brain:	n/a
2	chr5:14286263-14286313	ovcar-3	ovarian:	n/a
3	chr5:14286263-14286313	HCPEpiC	choroid plexus:	n/a
4	chr5:14286263-14286313	PrEC	prostate:	n/a
5	chr5:14286263-14286313	GM06990	blood:	n/a
6	chr5:14286263-14286313	HMEC	breast:	n/a
7	chr5:14286263-14286313	GM12878	blood:	n/a
8	chr5:14286263-14286313	ECC-1	luminal epithelium:	n/a
9	chr5:14286263-14286313	NH-A	brain:	n/a
10	chr5:14286263-14286313	LNCaP	prostate:	n/a
11	chr5:14286263-14286313	HCT-116	colon:	n/a
12	chr5:14286263-14286313	AG04450	lung:	fetal
13	chr5:14286263-14286313	HEEpiC	esophagus:	n/a
14	chr5:14286263-14286313	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:14286263-14286313	NHDF-neo	bronchial:	n/a
16	chr5:14286263-14286313	Jurkat	blood:	n/a
17	chr5:14286263-14286313	ProgFib	skin:	n/a
18	chr5:14286263-14286313	U87	brain:	n/a
19	chr5:14286263-14286313	HIPEpiC	eye:	n/a
20	chr5:14286263-14286313	HepG2	liver:	n/a
21	chr5:14286263-14286313	HEK293	kidney:	embryo
22	chr5:14286263-14286313	SK-N-MC	brain:	n/a
23	chr5:14286263-14286313	HL-60	blood:	n/a
24	chr5:14286263-14286313	CMK	blood:	n/a
25	chr5:14286263-14286313	K562	blood:	n/a
26	chr5:14286263-14286313	HRPEpiC	eye:	n/a
27	chr5:14286263-14286313	IMR90	lung:	fetal
28	chr5:14286263-14286313	HCM	heart:	n/a
29	chr5:14286263-14286313	AG10803	skin:	n/a
30	chr5:14286263-14286313	BE2_C	brain:	n/a
31	chr5:14286263-14286313	Hepatocyte	liver:	n/a
32	chr5:14286263-14286313	NHBE	bronchial:	n/a
33	chr5:14286263-14286313	NB4	blood:	n/a
34	chr5:14286263-14286313	SK-N-SH	brain:	n/a
35	chr5:14286263-14286313	SAEC	small airway:	n/a
36	chr5:14286263-14286313	GM19239	blood:	n/a
37	chr5:14286263-14286313	HAEpiC	amniotic membrane:	n/a
38	chr5:14286263-14286313	MCF10A-Er-Src	breast:	n/a
39	chr5:14286263-14286313	AG04449	skin:	fetal
40	chr5:14286263-14286313	HRE	kidney:	n/a
41	chr5:14286263-14286313	Caco-2	colon:	n/a
42	chr5:14286263-14286313	GM12892	blood:	n/a
43	chr5:14286263-14286313	SK-N-SH_RA	brain:	n/a
44	chr5:14286263-14286313	SKMC	muscle:	n/a
45	chr5:14286263-14286313	GM12891	blood:	n/a
46	chr5:14286263-14286313	PANC-1	pancreas:	n/a
47	chr5:14286263-14286313	H1-hESC	embryonic stem cell:	embryo
48	chr5:14286263-14286313	HCF	heart:	n/a
49	chr5:14286263-14286313	BJ	skin:	n/a
50	chr5:14286263-14286313	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14284680..14287380-chr5:14290475..14293181,2	K562	blood:

No data

Variant related genes	Relation type
TRIO	TF binding region
TRIO	CpG island
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11747048	1.00[CHB][hapmap]
rs13175673	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13184211	1.00[CHB][hapmap]
rs13184670	1.00[CHB][hapmap]
rs164861	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17299045	1.00[CHB][hapmap]
rs17302408	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs187125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs245577	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591277	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26057	1.00[CHB][hapmap]
rs26058	1.00[CHB][hapmap]
rs26059	1.00[CHB][hapmap]
rs26061	1.00[CHB][hapmap]
rs2607077	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607078	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697663	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27665	1.00[CHB][hapmap]
rs28010	1.00[CHB][hapmap]
rs30616	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs30617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32339	1.00[CHB][hapmap]
rs32341	1.00[CHB][hapmap]
rs32390	1.00[CHB][hapmap]
rs32394	1.00[CHB][hapmap]
rs354285	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs354298	1.00[CHB][hapmap]
rs354300	1.00[CHB][hapmap]
rs354305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354308	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354312	1.00[CHB][hapmap]
rs3849082	1.00[CHB][hapmap]
rs39856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42485	1.00[ASN][1000 genomes]
rs4702028	1.00[CHB][hapmap]
rs706271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773703	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs773763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799025	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897724	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897726	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs923616	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs773701	TOX	trans	lymphoblastoid	seeQTL
rs773701	CHMP7	trans	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
4	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
5	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
6	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:14270400-14289400	Weak transcription	Gastric	stomach
11	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
14	chr5:14270800-14286800	Weak transcription	Fetal Brain Male	brain
15	chr5:14270800-14293000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:14271000-14295800	Weak transcription	Brain Angular Gyrus	brain
17	chr5:14276800-14290800	Weak transcription	Esophagus	oesophagus
18	chr5:14277200-14291000	Weak transcription	Brain Anterior Caudate	brain
19	chr5:14277800-14286800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:14278600-14296200	Strong transcription	NH-A	brain
22	chr5:14279600-14295600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:14279800-14287800	Enhancers	Fetal Heart	heart
24	chr5:14279800-14287800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:14279800-14293200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:14279800-14294600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:14280000-14295000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:14280800-14286800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:14281000-14287000	Weak transcription	Placenta	Placenta
30	chr5:14281400-14291000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:14282000-14287400	Weak transcription	Fetal Intestine Large	intestine
32	chr5:14282200-14286400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:14282200-14286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:14282200-14287200	Weak transcription	Lung	lung
35	chr5:14282200-14290000	Weak transcription	Fetal Thymus	thymus
36	chr5:14282400-14286600	Weak transcription	Adipose Nuclei	Adipose
37	chr5:14282400-14287000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:14282400-14293400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:14283000-14287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:14283400-14286800	Weak transcription	Liver	Liver
42	chr5:14283800-14286400	Weak transcription	HUVEC	blood vessel
43	chr5:14283800-14287000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:14284000-14286400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:14284000-14286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:14284000-14286800	Weak transcription	HMEC	breast
47	chr5:14284200-14287200	Weak transcription	NHDF-Ad	bronchial
48	chr5:14284200-14296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:14284400-14286600	Weak transcription	HepG2	liver
50	chr5:14284600-14287000	Weak transcription	Monocytes-CD14+_RO01746	blood

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