Variant report

Variant	rs61750834
Chromosome Location	chr2:233756191-233756192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:233755415-233756275	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr2:233755425-233756683	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr2:233755316-233756582	ECC-1	luminal epithelium:	n/a	chr2:233755415-233755428
4	USF1	chr2:233755083-233756305	HCT-116	colon:	n/a	n/a
5	ZNF263	chr2:233755530-233756411	HEK293-T-REx	kidney:	n/a	chr2:233756257-233756266
6	MAX	chr2:233755469-233756608	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr2:233755427-233756261	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr2:233755450-233756285	HepG2	liver:	n/a	n/a
9	USF1	chr2:233755401-233756253	ECC-1	luminal epithelium:	n/a	n/a
10	TCF12	chr2:233755332-233756267	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr2:233755381-233756194	ECC-1	luminal epithelium:	n/a	n/a
12	RAD21	chr2:233755454-233756266	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr2:233755348-233756364	ECC-1	luminal epithelium:	n/a	n/a
14	USF1	chr2:233755357-233756208	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr2:233755420-233756196	ECC-1	luminal epithelium:	n/a	n/a
16	USF1	chr2:233755143-233756317	HCT-116	colon:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:233739669..233741368-chr2:233754744..233756796,2	MCF-7	breast:
2	chr2:233748378..233751543-chr2:233754163..233756692,4	MCF-7	breast:
3	chr2:233744737..233747188-chr2:233755867..233757866,2	MCF-7	breast:

No data

Variant related genes	Relation type
NGEF	TF binding region
ENSG00000066248	Chromatin interaction
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28631381	1.00[AMR][1000 genomes]
rs58480585	1.00[AMR][1000 genomes]
rs61351720	1.00[AMR][1000 genomes]
rs73092759	1.00[AMR][1000 genomes]
rs73092774	1.00[AMR][1000 genomes]
rs73094939	1.00[AMR][1000 genomes]
rs73094949	1.00[AMR][1000 genomes]
rs73094951	1.00[AMR][1000 genomes]
rs73094978	1.00[AMR][1000 genomes]
rs73094980	1.00[AMR][1000 genomes]
rs73102287	1.00[AMR][1000 genomes]
rs73102744	1.00[AMR][1000 genomes]
rs73106309	1.00[AMR][1000 genomes]
rs73107107	1.00[AMR][1000 genomes]
rs73108323	1.00[AMR][1000 genomes]
rs73108335	1.00[AMR][1000 genomes]
rs73108362	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv999116	chr2:233733352-233759864	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1007029	chr2:233733352-233760519	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv536179	chr2:233735380-233757170	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233743200-233759600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr2:233745600-233759800	Strong transcription	Liver	Liver
3	chr2:233749400-233766000	Weak transcription	A549	lung
4	chr2:233750600-233759800	Strong transcription	HepG2	liver
5	chr2:233750800-233761000	Weak transcription	Stomach Mucosa	stomach
6	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:233751200-233758400	Weak transcription	Fetal Brain Male	brain
8	chr2:233753200-233757200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:233753400-233756400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:233754400-233756200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:233754400-233756200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:233754800-233756200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:233754800-233756800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:233755000-233756600	Enhancers	Spleen	Spleen
15	chr2:233755200-233756200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:233755200-233756400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:233755400-233756200	Bivalent Enhancer	Placenta	Placenta
18	chr2:233755400-233756200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr2:233755400-233756600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:233755400-233756600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:233755400-233756800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:233755400-233756800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:233755400-233757000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:233755400-233757000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr2:233755400-233759800	Strong transcription	Colonic Mucosa	Colon
26	chr2:233755600-233756200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:233755600-233756200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:233755600-233756200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:233755600-233756200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:233755600-233756200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:233755600-233756200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:233755600-233756200	Enhancers	Brain Germinal Matrix	brain
33	chr2:233755600-233756200	Flanking Active TSS	Ovary	ovary
34	chr2:233755600-233756200	Bivalent Enhancer	Right Ventricle	heart
35	chr2:233755600-233756200	Enhancers	NHLF	lung
36	chr2:233755600-233756400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr2:233755600-233756400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:233755600-233756600	Enhancers	NH-A	brain
39	chr2:233755600-233756800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:233755600-233756800	Flanking Active TSS	HMEC	breast
41	chr2:233755600-233756800	Flanking Active TSS	Osteobl	bone
42	chr2:233755600-233757000	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:233755600-233757000	Enhancers	HSMM	muscle
44	chr2:233755600-233757400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:233755600-233757400	Enhancers	Brain Angular Gyrus	brain
46	chr2:233755600-233757400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:233755600-233757800	Strong transcription	Gastric	stomach
48	chr2:233755600-233759400	Strong transcription	Fetal Intestine Small	intestine
49	chr2:233755800-233756200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:233755800-233756200	Flanking Active TSS	Pancreas	Pancrea

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