Variant report

Variant	rs594814
Chromosome Location	chr11:73357292-73357293
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73357054-73357407	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr11:73357014-73357433	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr11:73356696-73357773	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr11:73357291-73357665	K562	blood:	n/a	n/a
5	ZNF143	chr11:73357141-73357659	H1-hESC	embryonic stem cell:	n/a	chr11:73357352-73357362
6	POLR2A	chr11:73356593-73357696	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr11:73357153-73357536	H1-hESC	embryonic stem cell:	n/a	chr11:73357309-73357319 chr11:73357311-73357324 chr11:73357352-73357365 chr11:73357352-73357365
8	TAF1	chr11:73356845-73357572	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr11:73356737-73357643	H1-hESC	embryonic stem cell:	n/a	n/a
10	TBP	chr11:73356973-73357579	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr11:73356588-73357771	H1-hESC	embryonic stem cell:	n/a	chr11:73356842-73356855 chr11:73357274-73357287
12	EGR1	chr11:73357248-73357531	K562	blood:	n/a	chr11:73357309-73357319 chr11:73357311-73357324 chr11:73357352-73357365 chr11:73357352-73357365
13	EGR1	chr11:73357190-73357450	K562	blood:	n/a	chr11:73357309-73357319 chr11:73357311-73357324 chr11:73357352-73357365 chr11:73357352-73357365
14	EP300	chr11:73357166-73357706	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:73357005-73359060	HepG2	liver:	n/a	n/a
16	YY1	chr11:73356810-73357463	H1-hESC	embryonic stem cell:	n/a	chr11:73357310-73357319 chr11:73357244-73357258
17	CTCF	chr11:73357287-73357565	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:73357003-73357392	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr11:73356927-73357653	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:73356852-73357554	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr11:73356901-73357511	H1-hESC	embryonic stem cell:	n/a	n/a
22	NRF1	chr11:73357207-73357492	H1-hESC	embryonic stem cell:	n/a	chr11:73357310-73357319
23	POLR2A	chr11:73357005-73357523	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr11:73357181-73357560	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73357276-73357326	HL-60	blood:	n/a
2	chr11:73357276-73357326	PANC-1	pancreas:	n/a
3	chr11:73357276-73357326	HCPEpiC	choroid plexus:	n/a
4	chr11:73357276-73357326	Hela-S3	cervix:	n/a
5	chr11:73357276-73357326	GM06990	blood:	n/a
6	chr11:73357276-73357326	PrEC	prostate:	n/a
7	chr11:73357276-73357326	NB4	blood:	n/a
8	chr11:73357276-73357326	NHBE	bronchial:	n/a
9	chr11:73357276-73357326	H1-hESC	embryonic stem cell:	embryo
10	chr11:73357276-73357326	HCM	heart:	n/a
11	chr11:73357276-73357326	HMEC	breast:	n/a
12	chr11:73357276-73357326	HCT-116	colon:	n/a
13	chr11:73357276-73357326	HUVEC	blood vessel:	n/a
14	chr11:73357276-73357326	AoSMC	blood vessel:	n/a
15	chr11:73357276-73357326	NHDF-neo	bronchial:	n/a
16	chr11:73357276-73357326	IMR90	lung:	fetal
17	chr11:73357276-73357326	HepG2	liver:	n/a
18	chr11:73357276-73357326	HEK293	kidney:	embryo
19	chr11:73357276-73357326	HNPCEpiC	eye:	n/a
20	chr11:73357276-73357326	SAEC	small airway:	n/a
21	chr11:73357276-73357326	ovcar-3	ovarian:	n/a
22	chr11:73357276-73357326	SK-N-SH	brain:	n/a
23	chr11:73357276-73357326	GM12891	blood:	n/a
24	chr11:73357276-73357326	ProgFib	skin:	n/a
25	chr11:73357276-73357326	A549	lung:	n/a
26	chr11:73357276-73357326	CMK	blood:	n/a
27	chr11:73357276-73357326	HCF	heart:	n/a
28	chr11:73357276-73357326	K562	blood:	n/a
29	chr11:73357276-73357326	AG04450	lung:	fetal
30	chr11:73357276-73357326	HAEpiC	amniotic membrane:	n/a
31	chr11:73357276-73357326	NT2-D1	testis:	n/a
32	chr11:73357276-73357326	AG09319	gingival:	n/a
33	chr11:73357276-73357326	SK-N-SH_RA	brain:	n/a
34	chr11:73357276-73357326	Hepatocyte	liver:	n/a
35	chr11:73357276-73357326	LNCaP	prostate:	n/a
36	chr11:73357276-73357326	SK-N-MC	brain:	n/a
37	chr11:73357276-73357326	ECC-1	luminal epithelium:	n/a
38	chr11:73357276-73357326	HRE	kidney:	n/a
39	chr11:73357276-73357326	AG09309	skin:	n/a
40	chr11:73357276-73357326	GM12892	blood:	n/a
41	chr11:73357276-73357326	MCF10A-Er-Src	breast:	n/a
42	chr11:73357276-73357326	BE2_C	brain:	n/a
43	chr11:73357276-73357326	NH-A	brain:	n/a
44	chr11:73357276-73357326	Caco-2	colon:	n/a
45	chr11:73357276-73357326	HEEpiC	esophagus:	n/a
46	chr11:73357276-73357326	AG10803	skin:	n/a
47	chr11:73357276-73357326	GM12878	blood:	n/a
48	chr11:73357276-73357326	AG04449	skin:	fetal
49	chr11:73357276-73357326	GM19239	blood:	n/a
50	chr11:73357276-73357326	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHB1	TF binding region
PLEKHB1	CpG island
ENSG00000054965	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10047427	1.00[MEX][hapmap]
rs11235756	1.00[MEX][hapmap]
rs11235782	1.00[MEX][hapmap]
rs11235817	1.00[MEX][hapmap]
rs12281470	1.00[MEX][hapmap]
rs12282576	1.00[MEX][hapmap]
rs12293194	1.00[AMR][1000 genomes]
rs1621654	1.00[AMR][1000 genomes]
rs1670571	0.85[YRI][hapmap]
rs1670574	1.00[AMR][1000 genomes]
rs1723834	0.89[ASW][hapmap]
rs1723838	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs1723844	0.89[ASW][hapmap]
rs1723845	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs1723846	0.85[LWK][hapmap]
rs1723849	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs17310361	1.00[MEX][hapmap]
rs1880643	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs1976913	1.00[AMR][1000 genomes]
rs2008722	0.81[ASW][hapmap];1.00[MEX][hapmap]
rs2511273	1.00[AMR][1000 genomes]
rs2511275	1.00[AMR][1000 genomes]
rs2512633	0.91[LWK][hapmap]
rs4551800	1.00[AMR][1000 genomes]
rs4944859	0.89[ASW][hapmap]
rs4944865	0.89[ASW][hapmap]
rs599116	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601335	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs610280	0.89[ASW][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620059	1.00[AMR][1000 genomes]
rs627721	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs641423	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs652229	0.89[ASW][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592529	0.89[ASW][hapmap];0.85[LWK][hapmap]
rs7950472	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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv525173	chr11:73356872-73364673	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73350000-73358600	Weak transcription	Right Atrium	heart
2	chr11:73352000-73357400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:73352000-73358000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:73352800-73357600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:73353000-73357800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:73353000-73358200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:73356000-73357400	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr11:73356200-73357400	Enhancers	HepG2	liver
9	chr11:73356200-73357600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr11:73356200-73358000	Bivalent Enhancer	Fetal Thymus	thymus
11	chr11:73356200-73358600	Enhancers	Placenta	Placenta
12	chr11:73356200-73358800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:73356400-73357400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:73356400-73357800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:73356400-73357800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:73356400-73357800	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr11:73356600-73357400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:73356600-73357400	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr11:73356600-73357600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr11:73356600-73357800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:73356600-73358400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:73356600-73358600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr11:73356600-73358600	Enhancers	Right Ventricle	heart
25	chr11:73356600-73359000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:73356600-73359000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:73356800-73357400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:73356800-73357400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:73356800-73357400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:73356800-73357400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:73356800-73357400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:73356800-73357400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr11:73356800-73357600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:73356800-73357600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:73356800-73357800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:73356800-73357800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:73356800-73358600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:73357000-73357400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:73357000-73357400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:73357000-73357400	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr11:73357000-73357600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr11:73357000-73357600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:73357000-73358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73357000-73358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:73357000-73358200	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:73357000-73358200	Weak transcription	Fetal Kidney	kidney
48	chr11:73357000-73359200	Bivalent Enhancer	NHEK	skin
49	chr11:73357200-73357400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:73357200-73357400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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