Variant report

Variant	rs1820453
Chromosome Location	chr11:101980335-101980336
allele	G/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	GTF2F1	chr11:101980222-101981330	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:101980208-101983001	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr11:101980208-101983548	IMR90	lung:	n/a	n/a
4	POLR2A	chr11:101979739-101984030	MCF10A-Er-Src	breast:	n/a	n/a
5	TBP	chr11:101980286-101981353	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:101980030-101983542	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:101980335-101981348	HepG2	liver:	n/a	n/a
8	MAFK	chr11:101980085-101981247	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr11:101980045-101983166	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:101980147-101980364	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:101980110-101980341	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr11:101980046-101983806	IMR90	lung:	n/a	chr11:101980764-101980771
13	CHD2	chr11:101980273-101983103	Hela-S3	cervix:	n/a	chr11:101980764-101980771
14	POLR2A	chr11:101979360-101984195	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:101979618-101983104	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:101980247-101980347	HepG2	liver:	n/a	n/a
17	SMC3	chr11:101980137-101981374	Hela-S3	cervix:	n/a	n/a
18	MAX	chr11:101980285-101983565	Hela-S3	cervix:	n/a	n/a
19	TCF7L2	chr11:101980120-101981343	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr11:101980305-101983557	IMR90	lung:	n/a	chr11:101982380-101982394
21	HEY1	chr11:101980233-101980457	HepG2	liver:	n/a	n/a
22	SIN3A	chr11:101980331-101983021	H1-hESC	embryonic stem cell:	n/a	chr11:101980929-101980940 chr11:101981454-101981467
23	USF2	chr11:101980211-101981318	Hela-S3	cervix:	n/a	chr11:101980971-101980982 chr11:101980972-101980981 chr11:101980971-101980984 chr11:101980973-101980982 chr11:101980973-101980982
24	ZKSCAN1	chr11:101980251-101981346	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:101980119-101983611	HepG2	liver:	n/a	n/a
26	CHD1	chr11:101980291-101981333	H1-hESC	embryonic stem cell:	n/a	chr11:101980764-101980771
27	CEBPB	chr11:101979522-101981341	Hela-S3	cervix:	n/a	chr11:101979980-101979991 chr11:101980410-101980422
28	POLR2A	chr11:101980131-101983119	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:101923063..101925584-chr11:101978678..101981062,2	MCF-7	breast:
2	chr11:66823134..66824640-chr11:101978587..101981113,2	MCF-7	breast:
3	chr11:101973697..101975768-chr11:101978687..101980575,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YAP1-1	chr11:101978617-101980573	ENSG00000260008.1

Variant related genes	Relation type
YAP1	TF binding region
ENSG00000173156	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10160773	0.80[ASN][1000 genomes]
rs10466638	1.00[JPT][hapmap]
rs10750627	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs10750631	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10791553	0.82[JPT][hapmap]
rs10791554	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10791562	0.87[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs10791563	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10895245	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs10895255	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10895256	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225115	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs11225132	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1365331	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1426395	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1426398	0.86[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1549496	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2033082	0.85[CEU][hapmap]
rs2033083	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3752685	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824930	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61918360	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61918361	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6590945	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs6590946	0.81[CHB][hapmap];0.93[JPT][hapmap]
rs7105334	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123006	0.87[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs7128788	0.82[EUR][1000 genomes]
rs7928958	0.82[JPT][hapmap]
rs7931899	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932563	0.82[EUR][1000 genomes]
rs9787758	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs983112	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101968000-101980400	Weak transcription	Right Atrium	heart
2	chr11:101979600-101980400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:101979600-101980400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:101979800-101980400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:101979800-101980400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:101980000-101980400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:101980000-101980400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:101980000-101980400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:101980000-101980400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:101980000-101980400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:101980000-101980400	Enhancers	Adipose Nuclei	Adipose
12	chr11:101980000-101980400	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:101980000-101980400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:101980000-101980400	Flanking Active TSS	A549	lung
15	chr11:101980000-101980400	Flanking Active TSS	Osteobl	bone
16	chr11:101980000-101980600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:101980000-101980600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:101980000-101980600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:101980000-101980600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:101980000-101980600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:101980000-101980600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:101980000-101980600	Flanking Active TSS	Hela-S3	cervix
23	chr11:101980000-101980600	Flanking Active TSS	NHEK	skin
24	chr11:101980000-101984000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:101980000-101984000	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:101980000-101984400	Active TSS	Stomach Smooth Muscle	stomach
27	chr11:101980200-101980400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr11:101980200-101980400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:101980200-101980400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:101980200-101980400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:101980200-101980400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr11:101980200-101980400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:101980200-101980400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:101980200-101980400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:101980200-101980400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:101980200-101980400	Active TSS	Liver	Liver
37	chr11:101980200-101980400	Enhancers	Brain Anterior Caudate	brain
38	chr11:101980200-101980400	Active TSS	Brain Germinal Matrix	brain
39	chr11:101980200-101980400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:101980200-101980400	Flanking Active TSS	Fetal Lung	lung
41	chr11:101980200-101980400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr11:101980200-101980400	Flanking Active TSS	Fetal Stomach	stomach
43	chr11:101980200-101980400	Enhancers	Ovary	ovary
44	chr11:101980200-101980400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:101980200-101980400	Enhancers	Right Ventricle	heart
46	chr11:101980200-101980400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr11:101980200-101980400	Flanking Active TSS	HMEC	breast
48	chr11:101980200-101980400	Flanking Active TSS	HSMM	muscle
49	chr11:101980200-101980400	Bivalent Enhancer	HUVEC	blood vessel
50	chr11:101980200-101980400	Flanking Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links