Variant report

Variant	rs4325905
Chromosome Location	chr3:141041789-141041790
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:141041737-141041799	Gliobla	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141041770-141041820	RPTEC	kidney:	n/a
2	chr3:141041770-141041820	HMEC	breast:	n/a
3	chr3:141041770-141041820	NT2-D1	testis:	n/a
4	chr3:141041770-141041820	HEK293	kidney:	embryo
5	chr3:141041770-141041820	SK-N-MC	brain:	n/a
6	chr3:141041770-141041820	HUVEC	blood vessel:	n/a
7	chr3:141041770-141041820	AG09309	skin:	n/a
8	chr3:141041770-141041820	GM12891	blood:	n/a
9	chr3:141041770-141041820	Hela-S3	cervix:	n/a
10	chr3:141041770-141041820	HCPEpiC	choroid plexus:	n/a
11	chr3:141041770-141041820	HNPCEpiC	eye:	n/a
12	chr3:141041770-141041820	HCM	heart:	n/a
13	chr3:141041770-141041820	SK-N-SH_RA	brain:	n/a
14	chr3:141041770-141041820	HCT-116	colon:	n/a
15	chr3:141041770-141041820	BJ	skin:	n/a
16	chr3:141041770-141041820	NHBE	bronchial:	n/a
17	chr3:141041770-141041820	NB4	blood:	n/a
18	chr3:141041770-141041820	K562	blood:	n/a
19	chr3:141041770-141041820	HRCEpiC	kidney:	n/a
20	chr3:141041770-141041820	HEEpiC	esophagus:	n/a
21	chr3:141041770-141041820	AG04450	lung:	fetal
22	chr3:141041770-141041820	AoSMC	blood vessel:	n/a
23	chr3:141041770-141041820	BE2_C	brain:	n/a
24	chr3:141041770-141041820	IMR90	lung:	fetal
25	chr3:141041770-141041820	MCF-7	breast:	n/a
26	chr3:141041770-141041820	AG10803	skin:	n/a
27	chr3:141041770-141041820	HAEpiC	amniotic membrane:	n/a
28	chr3:141041770-141041820	PFSK-1	brain:	n/a
29	chr3:141041770-141041820	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:141041770-141041820	H1-hESC	embryonic stem cell:	embryo
31	chr3:141041770-141041820	SK-N-SH	brain:	n/a
32	chr3:141041770-141041820	GM19239	blood:	n/a
33	chr3:141041770-141041820	A549	lung:	n/a
34	chr3:141041770-141041820	MCF10A-Er-Src	breast:	n/a
35	chr3:141041770-141041820	SAEC	small airway:	n/a
36	chr3:141041770-141041820	PANC-1	pancreas:	n/a
37	chr3:141041770-141041820	Hepatocyte	liver:	n/a
38	chr3:141041770-141041820	GM12878	blood:	n/a
39	chr3:141041770-141041820	ECC-1	luminal epithelium:	n/a
40	chr3:141041770-141041820	ovcar-3	ovarian:	n/a
41	chr3:141041770-141041820	HepG2	liver:	n/a
42	chr3:141041770-141041820	U87	brain:	n/a
43	chr3:141041770-141041820	NH-A	brain:	n/a
44	chr3:141041770-141041820	Jurkat	blood:	n/a
45	chr3:141041770-141041820	LNCaP	prostate:	n/a
46	chr3:141041770-141041820	T-47D	breast:	n/a
47	chr3:141041770-141041820	AG04449	skin:	fetal
48	chr3:141041770-141041820	CMK	blood:	n/a
49	chr3:141041770-141041820	HRPEpiC	eye:	n/a
50	chr3:141041770-141041820	HRE	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141041261..141045456-chr3:141085742..141089187,4	K562	blood:
2	chr3:141041057..141042632-chr3:141043258..141046046,3	K562	blood:
3	chr3:141040944..141042691-chr3:141048357..141050949,3	K562	blood:
4	chr3:141041261..141043649-chr3:141085742..141087985,3	K562	blood:

No data

Variant related genes	Relation type
ZBTB38	TF binding region
ZBTB38	CpG island
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13063736	0.89[EUR][1000 genomes]
rs13324219	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13434224	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1511380	0.96[CEU][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1983235	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs6777886	0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs6795197	0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs6795377	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs7616781	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7636469	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9823774	0.89[EUR][1000 genomes]
rs9823785	0.88[EUR][1000 genomes]
rs9829470	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9843461	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs9871963	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141031800-141047400	Weak transcription	Right Ventricle	heart
2	chr3:141039600-141042800	Enhancers	Fetal Intestine Large	intestine
3	chr3:141039800-141042000	Weak transcription	HepG2	liver
4	chr3:141039800-141042800	Enhancers	Fetal Intestine Small	intestine
5	chr3:141040000-141042800	Weak transcription	K562	blood
6	chr3:141040200-141042000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:141040200-141042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:141040200-141044000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:141040200-141044600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:141040200-141045200	Weak transcription	Lung	lung
11	chr3:141040400-141042800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:141040400-141043000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:141040600-141041800	Weak transcription	NHDF-Ad	bronchial
14	chr3:141040600-141042200	Weak transcription	A549	lung
15	chr3:141040600-141045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:141040600-141049000	Weak transcription	Hela-S3	cervix
17	chr3:141040600-141049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:141040800-141044800	Weak transcription	HUVEC	blood vessel
19	chr3:141041200-141043000	Weak transcription	Small Intestine	intestine
20	chr3:141041400-141044800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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