Variant report

Variant	rs2162733
Chromosome Location	chr5:111541688-111541689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr5:111541509-111541769	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFF	chr5:111541592-111541770	K562	blood:	n/a	n/a
3	ZMIZ1	chr5:111541658-111541886	K562	blood:	n/a	n/a
4	JUND	chr5:111541513-111542034	K562	blood:	n/a	n/a
5	NR2F2	chr5:111541360-111541986	K562	blood:	n/a	n/a
6	ESR1	chr5:111541445-111541878	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr5:111541518-111542029	K562	blood:	n/a	n/a
8	ELF1	chr5:111541466-111541814	K562	blood:	n/a	n/a
9	TFAP2C	chr5:111541469-111541991	Hela-S3	cervix:	n/a	n/a
10	SP1	chr5:111541359-111541966	H1-hESC	embryonic stem cell:	n/a	chr5:111541865-111541878
11	TBL1XR1	chr5:111541670-111541905	K562	blood:	n/a	n/a
12	TBP	chr5:111541493-111541781	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBL1XR1	chr5:111541573-111541994	K562	blood:	n/a	n/a
14	RCOR1	chr5:111541597-111541812	Hela-S3	cervix:	n/a	n/a
15	TAL1	chr5:111541561-111542065	K562	blood:	n/a	n/a
16	HMGN3	chr5:111541424-111542053	K562	blood:	n/a	n/a
17	ATF1	chr5:111541525-111541990	K562	blood:	n/a	n/a
18	MAFK	chr5:111541521-111541803	K562	blood:	n/a	n/a
19	GATA1	chr5:111541295-111542225	PBDE	blood:	n/a	chr5:111541834-111541844
20	EBF1	chr5:111541651-111541975	GM12878	blood:	n/a	chr5:111541818-111541829
21	EP300	chr5:111541512-111542127	K562	blood:	n/a	n/a
22	UBTF	chr5:111541558-111541883	K562	blood:	n/a	n/a
23	POLR2A	chr5:111541232-111541901	H1-hESC	embryonic stem cell:	n/a	n/a
24	GATA2	chr5:111541591-111542023	K562	blood:	n/a	chr5:111541834-111541844
25	NR2F2	chr5:111541501-111541953	MCF-7	breast:	n/a	n/a
26	BHLHE40	chr5:111541493-111541896	K562	blood:	n/a	n/a
27	RCOR1	chr5:111541659-111541945	K562	blood:	n/a	n/a
28	RCOR1	chr5:111541493-111542041	K562	blood:	n/a	n/a
29	CCNT2	chr5:111541670-111542021	K562	blood:	n/a	n/a
30	POLR2A	chr5:111541457-111541702	H1-hESC	embryonic stem cell:	n/a	n/a
31	NR2F2	chr5:111541480-111541958	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111495904..111497786-chr5:111539852..111541904,2	K562	blood:

No data

Variant related genes	Relation type
EPB41L4A	TF binding region
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10045569	0.89[CHB][hapmap]
rs10056561	0.99[ASN][1000 genomes]
rs1078129	0.84[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12659409	0.81[YRI][hapmap]
rs13165611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17134162	0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs17134228	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17134250	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1863960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2114988	0.83[ASN][1000 genomes]
rs2114989	0.81[ASN][1000 genomes]
rs2290990	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2303657	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2900059	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs34832895	0.82[AFR][1000 genomes]
rs3797320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815896	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3816657	0.89[CHB][hapmap]
rs6873159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7713216	0.89[CHB][hapmap]
rs7730625	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
2	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
3	chr5:111502800-111546000	Weak transcription	Ovary	ovary
4	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:111504800-111586400	Weak transcription	Gastric	stomach
6	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
8	chr5:111519000-111546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
10	chr5:111519800-111553600	Weak transcription	Esophagus	oesophagus
11	chr5:111529800-111553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:111535000-111541800	Weak transcription	Fetal Brain Female	brain
13	chr5:111538000-111541800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:111538000-111553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:111538200-111543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:111538200-111546400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:111538600-111541800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:111538600-111544800	Weak transcription	Fetal Kidney	kidney
19	chr5:111538600-111563600	Weak transcription	Lung	lung
20	chr5:111539000-111553600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:111539400-111553200	Weak transcription	NHEK	skin
22	chr5:111540000-111542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:111540200-111542000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:111540400-111544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:111540400-111553600	Weak transcription	Fetal Heart	heart
26	chr5:111540600-111541800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:111540600-111542200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:111540600-111542400	Weak transcription	Placenta	Placenta
29	chr5:111541000-111541800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:111541000-111541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:111541000-111541800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr5:111541200-111541800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr5:111541200-111541800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr5:111541200-111542000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:111541200-111542400	Enhancers	Hela-S3	cervix
36	chr5:111541400-111541800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:111541400-111541800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:111541400-111541800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:111541400-111541800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr5:111541400-111541800	Enhancers	Right Atrium	heart
41	chr5:111541400-111541800	Enhancers	Right Ventricle	heart
42	chr5:111541400-111542200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr5:111541400-111542200	Flanking Active TSS	K562	blood
44	chr5:111541600-111541800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:111541600-111542000	Enhancers	Left Ventricle	heart

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