Variant report

Variant	rs4849116
Chromosome Location	chr2:113482779-113482780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:113482068-113482971	HCT-116	colon:	n/a	n/a
2	CTCF	chr2:113482068-113482844	HCT-116	colon:	n/a	n/a
3	CTCF	chr2:113482640-113482790	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr2:113482488-113482801	A549	lung:	n/a	n/a
5	RAD21	chr2:113482369-113482783	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:113482485-113482814	K562	blood:	n/a	n/a
7	RAD21	chr2:113482147-113482893	A549	lung:	n/a	n/a
8	CTCF	chr2:113482213-113482938	GM12892	blood:	n/a	n/a
9	CTCF	chr2:113482165-113482852	GM12878	blood:	n/a	n/a
10	CTCF	chr2:113482449-113482795	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:113482217-113482974	GM12891	blood:	n/a	n/a
12	ZNF143	chr2:113482487-113482792	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:113482680-113482830	WI-38	lung:	n/a	n/a
14	RAD21	chr2:113482107-113483029	HCT-116	colon:	n/a	n/a
15	YY1	chr2:113482247-113482838	HepG2	liver:	n/a	n/a
16	SMC3	chr2:113482326-113482803	K562	blood:	n/a	n/a
17	CTCF	chr2:113482161-113482902	K562	blood:	n/a	n/a
18	SMC3	chr2:113482286-113482797	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:113482222-113482787	GM19238	blood:	n/a	n/a
20	CTCF	chr2:113482147-113482826	HepG2	liver:	n/a	n/a
21	CTCF	chr2:113482349-113482900	MCF-7	breast:	n/a	n/a
22	ZNF143	chr2:113482225-113482800	GM12878	blood:	n/a	n/a
23	RAD21	chr2:113482385-113482852	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr2:113482198-113482834	K562	blood:	n/a	n/a
25	BHLHE40	chr2:113482264-113482788	HepG2	liver:	n/a	n/a
26	CTCF	chr2:113482313-113482865	MCF-7	breast:	n/a	n/a
27	RAD21	chr2:113482098-113482823	HepG2	liver:	n/a	n/a
28	MAZ	chr2:113482319-113482792	K562	blood:	n/a	n/a
29	RAD21	chr2:113482185-113482856	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr2:113482360-113482811	A549	lung:	n/a	n/a
31	RAD21	chr2:113482345-113482817	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:113482216-113482784	K562	blood:	n/a	n/a
33	CTCF	chr2:113482056-113483021	HCT-116	colon:	n/a	n/a
34	RAD21	chr2:113482170-113482784	HepG2	liver:	n/a	n/a
35	SMC3	chr2:113482277-113482782	HepG2	liver:	n/a	n/a
36	CTCF	chr2:113482027-113483013	A549	lung:	n/a	n/a
37	RAD21	chr2:113482006-113482913	A549	lung:	n/a	n/a
38	SMC3	chr2:113482191-113482802	GM12878	blood:	n/a	n/a
39	MAZ	chr2:113482585-113482785	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
2	chr2:113384187..113384849-chr2:113482175..113483114,3	MCF-7	breast:
3	chr2:113380065..113382456-chr2:113480700..113483703,3	MCF-7	breast:
4	chr2:113450165..113451078-chr2:113482472..113483036,2	MCF-7	breast:
5	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
6	chr2:113475474..113478098-chr2:113481097..113483249,3	MCF-7	breast:
7	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
8	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
9	chr2:113478980..113481125-chr2:113482565..113484434,2	MCF-7	breast:
10	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
11	chr2:113339955..113341936-chr2:113481777..113484601,3	MCF-7	breast:
12	chr2:113298665..113301106-chr2:113481233..113484131,2	MCF-7	breast:
13	chr2:113384015..113385213-chr2:113482175..113483476,11	MCF-7	breast:

No data

Variant related genes	Relation type
NT5DC4	TF binding region
ENSG00000144136	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10176689	1.00[EUR][1000 genomes]
rs10181385	1.00[EUR][1000 genomes]
rs10183049	1.00[EUR][1000 genomes]
rs1143626	1.00[EUR][1000 genomes]
rs1143641	1.00[EUR][1000 genomes]
rs13424846	1.00[EUR][1000 genomes]
rs2063918	1.00[EUR][1000 genomes]
rs60696592	1.00[EUR][1000 genomes]
rs61134068	1.00[EUR][1000 genomes]
rs61677777	1.00[EUR][1000 genomes]
rs72950372	1.00[EUR][1000 genomes]
rs72954024	1.00[EUR][1000 genomes]
rs72954033	1.00[EUR][1000 genomes]
rs72954034	1.00[EUR][1000 genomes]
rs72954038	1.00[EUR][1000 genomes]
rs7591401	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3458160	chr2:113460280-113484749	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3458161	chr2:113460322-113484724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3458162	chr2:113460460-113484652	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113469400-113484200	Weak transcription	Right Atrium	heart
3	chr2:113472400-113483000	Weak transcription	Spleen	Spleen
4	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:113478400-113483800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:113479400-113485200	Enhancers	K562	blood
8	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:113481600-113483000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:113481800-113482800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:113481800-113484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:113481800-113486600	Enhancers	Placenta	Placenta
14	chr2:113482000-113483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:113482000-113483600	Enhancers	GM12878-XiMat	blood
16	chr2:113482000-113483800	Weak transcription	Colonic Mucosa	Colon
17	chr2:113482200-113482800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:113482200-113483000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:113482200-113484400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:113482200-113484800	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:113482200-113485000	Enhancers	Hela-S3	cervix
22	chr2:113482200-113485200	Enhancers	HMEC	breast
23	chr2:113482400-113483000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr2:113482400-113484000	Flanking Bivalent TSS/Enh	HepG2	liver
25	chr2:113482400-113484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:113482400-113484800	Enhancers	Fetal Intestine Large	intestine
27	chr2:113482400-113484800	Enhancers	Fetal Intestine Small	intestine
28	chr2:113482600-113482800	Enhancers	Fetal Thymus	thymus
29	chr2:113482600-113483000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:113482600-113483600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:113482600-113484000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:113482600-113484200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:113482600-113484400	Enhancers	A549	lung
34	chr2:113482600-113484800	Enhancers	NHEK	skin

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