Variant report

Variant	rs4910480
Chromosome Location	chr11:9599653-9599654
allele	A/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	CEBPB	chr11:9599523-9599773	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:9593829-9601404	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:9598235-9600331	Hela-S3	cervix:	n/a	n/a
4	MYC	chr11:9599240-9599770	MCF10A-Er-Src	breast:	n/a	n/a
5	CHD1	chr11:9594023-9600398	IMR90	lung:	n/a	chr11:9596149-9596159
6	POLR2A	chr11:9593721-9599676	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:9592789-9600461	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr11:9599521-9599766	K562	blood:	n/a	n/a
9	POLR2A	chr11:9597964-9600379	K562	blood:	n/a	n/a
10	CEBPB	chr11:9599521-9599780	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr11:9599480-9599781	A549	lung:	n/a	n/a
12	POLR2A	chr11:9598556-9599792	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
2	chr11:9482164..9483690-chr11:9598599..9601195,2	MCF-7	breast:
3	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:

Variant related genes	Relation type
WEE1	TF binding region
RN7SL56P	TF binding region
ENSG00000243964	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11042430	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042433	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12416887	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12419221	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12422111	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35042828	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35198914	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61876835	0.87[AMR][1000 genomes];0.89[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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9593800-9599800	Active TSS	HSMMtube	muscle
2	chr11:9594200-9600000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:9594200-9601200	Active TSS	Aorta	Aorta
4	chr11:9594800-9599800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:9594800-9600000	Active TSS	Fetal Intestine Large	intestine
6	chr11:9596000-9599800	Active TSS	Right Atrium	heart
7	chr11:9596200-9599800	Active TSS	Fetal Heart	heart
8	chr11:9596200-9600200	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr11:9596200-9600400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr11:9596400-9600200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr11:9596400-9600400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:9596600-9600400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
13	chr11:9596600-9601400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
14	chr11:9596800-9604000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:9597000-9600000	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:9597000-9600200	Active TSS	Stomach Smooth Muscle	stomach
17	chr11:9597000-9604600	Weak transcription	Lung	lung
18	chr11:9597000-9606000	Weak transcription	Small Intestine	intestine
19	chr11:9597000-9613400	Weak transcription	Gastric	stomach
20	chr11:9597000-9622000	Weak transcription	Spleen	Spleen
21	chr11:9597200-9600200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
23	chr11:9597400-9599800	Transcr. at gene 5' and 3'	A549	lung
24	chr11:9597600-9601800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:9597600-9602000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:9597600-9602400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:9597600-9604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:9597600-9609600	Weak transcription	Brain Anterior Caudate	brain
29	chr11:9597600-9615200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:9597800-9599800	Transcr. at gene 5' and 3'	Osteobl	bone
31	chr11:9597800-9600000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:9597800-9603400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr11:9597800-9604600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:9597800-9605600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:9598000-9600000	Transcr. at gene 5' and 3'	NHEK	skin
36	chr11:9598000-9600200	Transcr. at gene 5' and 3'	NH-A	brain
37	chr11:9598000-9605600	Weak transcription	Stomach Mucosa	stomach
38	chr11:9598200-9600000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:9598200-9600000	Transcr. at gene 5' and 3'	HSMM	muscle
40	chr11:9598400-9599800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:9598400-9600200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:9598400-9612000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:9598600-9599800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:9598600-9600000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:9598600-9600000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:9598600-9608800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:9598600-9610800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:9598800-9611600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr11:9599000-9600000	Strong transcription	Liver	Liver
50	chr11:9599000-9600200	Transcr. at gene 5' and 3'	HMEC	breast

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