Variant report

Variant	rs59955477
Chromosome Location	chr11:73100668-73100669
allele	C/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	POLR2A	chr11:73100164-73100761	GM12892	blood:	n/a	n/a
2	TFAP2C	chr11:73099581-73100815	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:73099539-73100754	ECC-1	luminal epithelium:	n/a	chr11:73100661-73100677 chr11:73100664-73100680 chr11:73100660-73100676
4	POLR2A	chr11:73098106-73111810	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:73100270-73100995	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:73098540-73102525	A549	lung:	n/a	n/a
7	POLR2A	chr11:73100205-73103316	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:73100197-73101329	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:73100184-73100874	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72900219..72902837-chr11:73100123..73101971,2	MCF-7	breast:
2	chr11:73017324..73020653-chr11:73098598..73101937,4	MCF-7	breast:
3	chr11:73098600..73102285-chr11:73102322..73106479,4	MCF-7	breast:
4	chr11:73099755..73102272-chr11:73109128..73112969,3	K562	blood:
5	chr11:73044977..73046880-chr11:73100107..73101964,2	K562	blood:

Variant related genes	Relation type
RELT	TF binding region
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction
ENSG00000257038	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10898919	0.94[ASN][1000 genomes]
rs11235738	1.00[ASN][1000 genomes]
rs11235740	1.00[ASN][1000 genomes]
rs11235745	1.00[ASN][1000 genomes]
rs11235759	1.00[ASN][1000 genomes]
rs11235775	1.00[ASN][1000 genomes]
rs11235778	0.89[ASN][1000 genomes]
rs11235779	0.89[ASN][1000 genomes]
rs11825028	0.89[ASN][1000 genomes]
rs12269884	1.00[ASN][1000 genomes]
rs12274589	0.89[ASN][1000 genomes]
rs12282790	1.00[ASN][1000 genomes]
rs12282871	0.89[ASN][1000 genomes]
rs12288934	0.89[ASN][1000 genomes]
rs12290367	1.00[ASN][1000 genomes]
rs12290835	1.00[ASN][1000 genomes]
rs12293596	1.00[ASN][1000 genomes]
rs13328886	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3825005	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56721062	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57181830	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57536508	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57727431	0.81[ASN][1000 genomes]
rs57860998	1.00[AMR][1000 genomes]
rs59809325	1.00[AMR][1000 genomes]
rs59991976	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60038108	0.81[ASN][1000 genomes]
rs60123349	1.00[AMR][1000 genomes]
rs60349984	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60920919	1.00[AMR][1000 genomes]
rs61613696	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7131397	1.00[ASN][1000 genomes]
rs9888198	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9888218	1.00[ASN][1000 genomes]
rs9971494	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73088600-73100800	Enhancers	Placenta	Placenta
2	chr11:73089000-73101000	Enhancers	Brain Hippocampus Middle	brain
3	chr11:73090000-73101400	Enhancers	Adipose Nuclei	Adipose
4	chr11:73091000-73104200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:73091600-73101600	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:73092600-73100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:73095000-73103400	Weak transcription	Gastric	stomach
8	chr11:73095200-73116200	Weak transcription	Liver	Liver
9	chr11:73095400-73103000	Weak transcription	NHLF	lung
10	chr11:73096200-73101800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:73096600-73104400	Weak transcription	Fetal Brain Male	brain
13	chr11:73097000-73106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:73097200-73100800	Enhancers	HMEC	breast
15	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:73097400-73103200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:73097400-73103600	Weak transcription	HepG2	liver
18	chr11:73097400-73103600	Weak transcription	Osteobl	bone
19	chr11:73097400-73106400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:73097600-73104600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
24	chr11:73097800-73104000	Weak transcription	Brain Germinal Matrix	brain
25	chr11:73098000-73101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:73098000-73102200	Weak transcription	Brain Anterior Caudate	brain
27	chr11:73098000-73104200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:73098200-73101200	Enhancers	Psoas Muscle	Psoas
29	chr11:73098400-73101800	Weak transcription	Dnd41	blood
30	chr11:73098600-73100800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:73098600-73100800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:73098600-73100800	Genic enhancers	Spleen	Spleen
33	chr11:73098600-73101400	Genic enhancers	GM12878-XiMat	blood
34	chr11:73098600-73104600	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:73098800-73101400	Enhancers	HSMMtube	muscle
38	chr11:73098800-73104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:73098800-73105200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
41	chr11:73099000-73101400	Enhancers	Right Ventricle	heart
42	chr11:73099000-73104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:73099200-73101400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:73099200-73102000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:73099200-73103000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:73099200-73106600	Strong transcription	Fetal Intestine Small	intestine
47	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:73099400-73101000	Enhancers	Primary B cells from cord blood	blood

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