Variant report

Variant	rs2242071
Chromosome Location	chr2:208994697-208994698
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	GATA3	chr2:208994494-208995408	SK-N-SH	brain:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
2	POLR2A	chr2:208994681-208995107	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr2:208994385-208995580	HepG2	liver:	n/a	n/a
4	JUND	chr2:208994631-208995252	SK-N-SH	brain:	n/a	chr2:208994932-208994942 chr2:208994932-208994942 chr2:208994931-208994942 chr2:208994933-208994941
5	JUND	chr2:208994667-208995276	SK-N-SH	brain:	n/a	chr2:208994932-208994942 chr2:208994932-208994942 chr2:208994931-208994942 chr2:208994933-208994941
6	GATA3	chr2:208994694-208995409	MCF-7	breast:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
7	RXRA	chr2:208994468-208995175	SK-N-SH	brain:	n/a	n/a
8	KAP1	chr2:208994621-208995421	U2OS	brain:	n/a	n/a
9	EP300	chr2:208994656-208995194	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr2:208994534-208995224	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr2:208994623-208995248	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr2:208994411-208995438	SK-N-SH	brain:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
13	TCF12	chr2:208994598-208995349	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr2:208994644-208995291	SK-N-SH	brain:	n/a	n/a
15	NFIC	chr2:208994668-208995461	HepG2	liver:	n/a	n/a
16	GATA2	chr2:208994417-208995366	SH-SY5Y	brain:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995025-208995032
17	CTCF	chr2:208994580-208994730	SK-N-SH_RA	brain:	n/a	n/a
18	FOSL2	chr2:208994627-208995199	SK-N-SH	brain:	n/a	chr2:208994932-208994942 chr2:208994932-208994942 chr2:208994933-208994941

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208989109..208991585-chr2:208994453..208996077,2	K562	blood:
2	chr2:47433190..47433692-chr2:208994565..208995065,2	MCF-7	breast:

Variant related genes	Relation type
CRYGC	TF binding region
ENSG00000118231	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11678616	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11679743	0.92[ASN][1000 genomes]
rs12464752	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13007922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4263096	0.86[JPT][hapmap]
rs4276012	0.94[ASN][1000 genomes]
rs4289171	0.94[ASN][1000 genomes]
rs4338947	0.94[ASN][1000 genomes]
rs4375849	0.94[ASN][1000 genomes]
rs4449112	0.94[ASN][1000 genomes]
rs4583446	0.90[JPT][hapmap]
rs6435416	0.94[ASN][1000 genomes]
rs6710715	0.94[ASN][1000 genomes]
rs6711499	0.94[ASN][1000 genomes]
rs6751246	0.94[ASN][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea
2	chr2:208990400-208995000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:208992800-208994800	Weak transcription	Stomach Mucosa	stomach
4	chr2:208993400-209002200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:208994000-208998400	Enhancers	Fetal Intestine Large	intestine
6	chr2:208994200-208995200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:208994200-208995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:208994200-208995400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:208994200-208996200	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:208994200-208997000	Enhancers	HMEC	breast
11	chr2:208994200-208998400	Enhancers	Fetal Intestine Small	intestine
12	chr2:208994400-208995200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:208994400-208995400	Enhancers	Placenta	Placenta
14	chr2:208994400-208995800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:208994600-208995200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:208994600-208995200	Enhancers	NH-A	brain
17	chr2:208994600-208995400	Enhancers	NHEK	skin
18	chr2:208994600-208995600	Flanking Active TSS	HepG2	liver
19	chr2:208994600-208995800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:208994600-208996000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:208994600-208996200	Enhancers	Hela-S3	cervix
22	chr2:208994600-208999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:208994600-209002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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