Variant report

Variant	rs57953876
Chromosome Location	chr11:73357447-73357448
allele	C/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	CTBP2	chr11:73356696-73357773	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr11:73357291-73357665	K562	blood:	n/a	n/a
3	ZNF143	chr11:73357141-73357659	H1-hESC	embryonic stem cell:	n/a	chr11:73357352-73357362
4	POLR2A	chr11:73356593-73357696	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr11:73357153-73357536	H1-hESC	embryonic stem cell:	n/a	chr11:73357309-73357319 chr11:73357311-73357324 chr11:73357352-73357365 chr11:73357352-73357365
6	TAF1	chr11:73356845-73357572	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr11:73356737-73357643	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBP	chr11:73356973-73357579	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr11:73357368-73357673	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr11:73356588-73357771	H1-hESC	embryonic stem cell:	n/a	chr11:73356842-73356855 chr11:73357274-73357287
11	EGR1	chr11:73357248-73357531	K562	blood:	n/a	chr11:73357309-73357319 chr11:73357311-73357324 chr11:73357352-73357365 chr11:73357352-73357365
12	EGR1	chr11:73357190-73357450	K562	blood:	n/a	chr11:73357309-73357319 chr11:73357311-73357324 chr11:73357352-73357365 chr11:73357352-73357365
13	EP300	chr11:73357166-73357706	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:73357005-73359060	HepG2	liver:	n/a	n/a
15	YY1	chr11:73356810-73357463	H1-hESC	embryonic stem cell:	n/a	chr11:73357310-73357319 chr11:73357244-73357258
16	CTCF	chr11:73357287-73357565	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr11:73356927-73357653	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:73356852-73357554	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr11:73356901-73357511	H1-hESC	embryonic stem cell:	n/a	n/a
20	NRF1	chr11:73357207-73357492	H1-hESC	embryonic stem cell:	n/a	chr11:73357310-73357319
21	POLR2A	chr11:73357005-73357523	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr11:73357181-73357560	K562	blood:	n/a	n/a

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

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

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

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

rs_ID	r²[population]
rs2103188	1.00[EUR][1000 genomes]
rs58902149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73350000-73358600	Weak transcription	Right Atrium	heart
2	chr11:73352000-73358000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:73352800-73357600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:73353000-73357800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:73353000-73358200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:73356200-73357600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:73356200-73358000	Bivalent Enhancer	Fetal Thymus	thymus
8	chr11:73356200-73358600	Enhancers	Placenta	Placenta
9	chr11:73356200-73358800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:73356400-73357800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:73356400-73357800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:73356400-73357800	Bivalent Enhancer	Fetal Intestine Large	intestine
14	chr11:73356600-73357600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:73356600-73357800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:73356600-73358400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:73356600-73358600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:73356600-73358600	Enhancers	Right Ventricle	heart
19	chr11:73356600-73359000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:73356600-73359000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr11:73356800-73357600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr11:73356800-73357600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:73356800-73357800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:73356800-73357800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:73356800-73358600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73357000-73357600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:73357000-73357600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:73357000-73358000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:73357000-73358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:73357000-73358200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:73357000-73358200	Weak transcription	Fetal Kidney	kidney
33	chr11:73357000-73359200	Bivalent Enhancer	NHEK	skin
34	chr11:73357200-73357600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:73357200-73357600	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:73357200-73357600	Flanking Bivalent TSS/Enh	K562	blood
37	chr11:73357200-73357800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:73357200-73358200	Enhancers	Brain Anterior Caudate	brain
39	chr11:73357200-73358200	Weak transcription	Fetal Heart	heart
40	chr11:73357200-73358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:73357200-73359200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:73357200-73359200	Enhancers	Spleen	Spleen
43	chr11:73357200-73364000	Weak transcription	Liver	Liver
44	chr11:73357400-73357600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:73357400-73357600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:73357400-73357600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:73357400-73357800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:73357400-73357800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:73357400-73357800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:73357400-73357800	Active TSS	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links