Variant report

Variant	rs1078980
Chromosome Location	chr4:82085629-82085630
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	MAX	chr4:82085587-82086417	HCT-116	colon:	n/a	n/a
2	MAX	chr4:82085616-82086417	HCT-116	colon:	n/a	n/a
3	SRF	chr4:82085616-82086495	HCT-116	colon:	n/a	n/a
4	SRF	chr4:82085593-82086451	HCT-116	colon:	n/a	n/a
5	JUND	chr4:82085622-82086495	HCT-116	colon:	n/a	chr4:82086027-82086038
6	FOSL1	chr4:82085440-82086541	HCT-116	colon:	n/a	n/a
7	CBX3	chr4:82085556-82086383	HCT-116	colon:	n/a	n/a
8	FOSL1	chr4:82085578-82086396	HCT-116	colon:	n/a	n/a
9	CEBPB	chr4:82085563-82086736	HCT-116	colon:	n/a	chr4:82086380-82086391 chr4:82086378-82086391 chr4:82086380-82086389 chr4:82086380-82086389 chr4:82086380-82086389 chr4:82086378-82086391 chr4:82086380-82086389 chr4:82086625-82086633 chr4:82086378-82086389
10	JUND	chr4:82085555-82086784	HCT-116	colon:	n/a	chr4:82086027-82086038
11	RCOR1	chr4:82085618-82086875	IMR90	lung:	n/a	n/a
12	HNF4A	chr4:82085382-82085637	HepG2	liver:	n/a	chr4:82085470-82085485 chr4:82085485-82085500
13	EGR1	chr4:82085576-82086499	HCT-116	colon:	n/a	n/a
14	SP1	chr4:82085443-82086512	HCT-116	colon:	n/a	n/a
15	CEBPB	chr4:82085507-82086722	HCT-116	colon:	n/a	chr4:82086380-82086391 chr4:82086378-82086391 chr4:82086380-82086389 chr4:82086380-82086389 chr4:82086380-82086389 chr4:82086378-82086391 chr4:82086380-82086389 chr4:82086625-82086633 chr4:82086378-82086389
16	SP1	chr4:82085423-82086638	HCT-116	colon:	n/a	n/a
17	CBX3	chr4:82085623-82086725	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82084510..82088075-chr4:82091925..82095103,3	K562	blood:

Variant related genes	Relation type
ENSG00000251059	TF binding region
ENSG00000251059	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11722019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11941243	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1348399	0.95[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1443535	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1982283	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102818	0.95[CHB][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28550691	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3733553	0.94[AMR][1000 genomes]
rs58629505	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6535234	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6846241	0.82[AMR][1000 genomes]
rs751295	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7687935	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7688672	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7696645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9992933	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82075400-82085800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:82081200-82087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:82082800-82087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:82084000-82087600	Enhancers	Fetal Intestine Small	intestine
5	chr4:82084400-82085800	Enhancers	Stomach Mucosa	stomach
6	chr4:82084400-82086600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:82084600-82087200	Enhancers	Fetal Intestine Large	intestine
8	chr4:82085200-82086000	Enhancers	HMEC	breast
9	chr4:82085200-82086800	Enhancers	Fetal Brain Female	brain
10	chr4:82085200-82087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:82085400-82085800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr4:82085400-82085800	Enhancers	NH-A	brain
13	chr4:82085400-82086000	Enhancers	NHDF-Ad	bronchial
14	chr4:82085400-82086600	Enhancers	Hela-S3	cervix
15	chr4:82085400-82087200	Enhancers	NHEK	skin
16	chr4:82085400-82087800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:82085400-82088200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:82085400-82088200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:82085600-82086000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr4:82085600-82086000	Active TSS	A549	lung
21	chr4:82085600-82086200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:82085600-82089800	Enhancers	Fetal Brain Male	brain

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