Variant report

Variant	rs999712
Chromosome Location	chr2:233877172-233877173
allele	C/T
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	MYBL2	chr2:233876832-233878378	HepG2	liver:	n/a	n/a
2	MAX	chr2:233876836-233878417	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:233877005-233878271	HepG2	liver:	n/a	n/a
4	TEAD4	chr2:233876903-233877632	HepG2	liver:	n/a	n/a
5	FOXA2	chr2:233877065-233878567	HepG2	liver:	n/a	n/a
6	HEY1	chr2:233877155-233877702	HepG2	liver:	n/a	n/a
7	NFIC	chr2:233877022-233878329	HepG2	liver:	n/a	n/a
8	MAZ	chr2:233877112-233877302	HepG2	liver:	n/a	n/a
9	ELF1	chr2:233877063-233877506	HepG2	liver:	n/a	chr2:233877170-233877182
10	FOXA2	chr2:233877122-233877485	HepG2	liver:	n/a	n/a
11	HDAC2	chr2:233877077-233877462	HepG2	liver:	n/a	n/a
12	ZBTB7A	chr2:233877044-233877235	HepG2	liver:	n/a	n/a
13	MBD4	chr2:233876882-233877599	HepG2	liver:	n/a	n/a
14	ELF1	chr2:233877001-233877516	HepG2	liver:	n/a	chr2:233877170-233877182

Variant related genes	Relation type
ENSG00000222001	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6731201	1.00[AMR][1000 genomes]
rs6736310	1.00[AMR][1000 genomes]
rs6741408	1.00[AMR][1000 genomes]
rs6756855	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv876011	chr2:233809244-233912755	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233864400-233902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:233875200-233878000	Enhancers	Spleen	Spleen
3	chr2:233875600-233888000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:233876000-233877200	Enhancers	Fetal Thymus	thymus
5	chr2:233876000-233877400	Flanking Active TSS	Liver	Liver
6	chr2:233876000-233877600	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:233876000-233877600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:233876000-233878400	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:233876200-233877400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:233876200-233877800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:233876200-233878000	Active TSS	Stomach Mucosa	stomach
12	chr2:233876200-233878200	Enhancers	Lung	lung
13	chr2:233876200-233878200	Enhancers	A549	lung
14	chr2:233876200-233878400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr2:233876400-233877200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr2:233876400-233877200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:233876400-233877400	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:233876400-233877600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:233876400-233877600	Enhancers	Brain Germinal Matrix	brain
20	chr2:233876400-233877600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:233876400-233877800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr2:233876400-233878000	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr2:233876600-233877200	Enhancers	Fetal Lung	lung
24	chr2:233876600-233877200	Enhancers	Gastric	stomach
25	chr2:233876600-233877400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:233876600-233877600	Enhancers	Adipose Nuclei	Adipose
27	chr2:233876800-233877400	Active TSS	Small Intestine	intestine
28	chr2:233876800-233877600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr2:233876800-233878400	Active TSS	Colonic Mucosa	Colon
30	chr2:233877000-233877200	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr2:233877000-233877200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:233877000-233877400	Flanking Active TSS	Pancreas	Pancrea
33	chr2:233877000-233877400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr2:233877000-233877600	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr2:233877000-233877600	Enhancers	HUVEC	blood vessel

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