Variant report

Variant	rs45511994
Chromosome Location	chr6:37611796-37611797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:37611642-37611948	PFSK-1	brain:	n/a	n/a
2	TAF1	chr6:37611679-37612046	PFSK-1	brain:	n/a	n/a
3	CCNT2	chr6:37611796-37612022	K562	blood:	n/a	n/a
4	REST	chr6:37611692-37612124	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr6:37611619-37612224	K562	blood:	n/a	n/a
6	REST	chr6:37611784-37611960	K562	blood:	n/a	n/a
7	HMGN3	chr6:37611765-37612002	K562	blood:	n/a	n/a
8	EGR1	chr6:37611625-37612123	K562	blood:	n/a	n/a
9	GABPA	chr6:37611678-37612162	K562	blood:	n/a	n/a
10	ZMIZ1	chr6:37611678-37612078	K562	blood:	n/a	n/a
11	TEAD4	chr6:37611702-37612061	K562	blood:	n/a	n/a
12	E2F6	chr6:37611633-37611976	K562	blood:	n/a	n/a
13	POLR2A	chr6:37611656-37612184	PFSK-1	brain:	n/a	n/a
14	EGR1	chr6:37611767-37611934	GM12878	blood:	n/a	n/a
15	FOXP2	chr6:37611683-37612075	PFSK-1	brain:	n/a	n/a
16	CBX3	chr6:37611663-37612187	K562	blood:	n/a	n/a
17	ETS1	chr6:37611648-37612107	K562	blood:	n/a	n/a
18	ELF1	chr6:37611672-37612002	K562	blood:	n/a	n/a
19	ELF1	chr6:37611784-37612061	K562	blood:	n/a	n/a
20	POLR2A	chr6:37611507-37612303	PFSK-1	brain:	n/a	n/a
21	EGR1	chr6:37611619-37612171	K562	blood:	n/a	n/a
22	RCOR1	chr6:37611688-37612018	K562	blood:	n/a	n/a
23	GATA2	chr6:37611647-37612054	K562	blood:	n/a	n/a
24	EP300	chr6:37611685-37612039	K562	blood:	n/a	chr6:37612008-37612017 chr6:37612010-37612024
25	HDAC2	chr6:37611682-37612091	K562	blood:	n/a	n/a
26	TEAD4	chr6:37611565-37612125	K562	blood:	n/a	n/a
27	FOXP2	chr6:37611700-37612078	PFSK-1	brain:	n/a	n/a
28	ETS1	chr6:37611704-37612044	K562	blood:	n/a	n/a
29	MAX	chr6:37611564-37612107	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37601453..37608472-chr6:37609186..37615415,9	K562	blood:

No data

Variant related genes	Relation type
MDGA1	TF binding region
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10947689	0.84[ASN][1000 genomes]
rs12530135	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3905219	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45539335	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4714088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714090	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901281	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6939363	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9462339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9462340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37594000-37615400	Weak transcription	Fetal Brain Female	brain
2	chr6:37599200-37615600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:37599200-37621800	Weak transcription	NHLF	lung
4	chr6:37602200-37616600	Weak transcription	Right Atrium	heart
5	chr6:37602800-37616400	Weak transcription	Ovary	ovary
6	chr6:37604000-37611800	Weak transcription	Brain Germinal Matrix	brain
7	chr6:37604200-37614600	Strong transcription	Fetal Stomach	stomach
8	chr6:37606800-37611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:37606800-37615600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:37607000-37611800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:37609000-37612600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:37609600-37612800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:37609800-37612600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:37610000-37612200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr6:37610000-37612600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:37610000-37612600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:37610200-37611800	Weak transcription	Fetal Brain Male	brain
18	chr6:37610400-37612400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:37610400-37612800	Enhancers	K562	blood
20	chr6:37610600-37612400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:37610600-37612400	Enhancers	Esophagus	oesophagus
22	chr6:37610600-37612600	Enhancers	Spleen	Spleen
23	chr6:37610600-37612800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:37610800-37612000	Weak transcription	Left Ventricle	heart
25	chr6:37610800-37612400	Enhancers	Primary T cells from cord blood	blood
26	chr6:37610800-37612600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:37610800-37612600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:37610800-37612600	Enhancers	Dnd41	blood
29	chr6:37611000-37612000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:37611200-37612600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:37611400-37611800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:37611400-37611800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr6:37611400-37612400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:37611400-37612400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:37611400-37612400	Enhancers	HUVEC	blood vessel
36	chr6:37611400-37612600	Enhancers	Primary B cells from peripheral blood	blood
37	chr6:37611400-37612600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr6:37611400-37612600	Enhancers	Hela-S3	cervix
39	chr6:37611600-37611800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:37611600-37611800	Enhancers	Gastric	stomach
41	chr6:37611600-37612000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:37611600-37612000	Enhancers	Lung	lung
43	chr6:37611600-37612200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:37611600-37612200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:37611600-37612200	Enhancers	NHEK	skin
46	chr6:37611600-37612400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:37611600-37612400	Enhancers	Small Intestine	intestine
48	chr6:37611600-37612400	Enhancers	HMEC	breast
49	chr6:37611600-37612600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:37611600-37612600	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links