Variant report

Variant	rs9333580
Chromosome Location	chr11:64888110-64888111
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64888094-64890053	GM12892	blood:	n/a	n/a
2	SP1	chr11:64888050-64888327	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:64887109-64888114	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:64881694-64890247	PFSK-1	brain:	n/a	n/a
5	CTCF	chr11:64888024-64888352	T-47D	breast:	n/a	n/a
6	POLR2A	chr11:64887131-64890303	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:64885726-64890254	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:64887149-64888330	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:64887095-64888156	MCF10A-Er-Src	breast:	n/a	n/a
10	HEY1	chr11:64887141-64888129	K562	blood:	n/a	n/a
11	POLR2A	chr11:64881830-64888134	K562	blood:	n/a	n/a
12	REST	chr11:64888099-64888312	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:64888042-64888307	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:64888046-64888529	K562	blood:	n/a	n/a
15	POLR2A	chr11:64887141-64890194	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:64887003-64888593	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:64887371-64888590	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr11:64887073-64890195	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:64887120-64890433	K562	blood:	n/a	n/a
20	POLR2A	chr11:64887008-64888142	GM12891	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64887177..64889563-chr11:64975321..64976932,2	K562	blood:
2	chr11:64887671..64894047-chr11:64935608..64941283,15	K562	blood:
3	chr11:64885937..64888731-chr11:64908314..64909997,2	K562	blood:
4	chr11:64887509..64889664-chr11:65266185..65268284,2	MCF-7	breast:
5	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
6	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
7	chr11:64887534..64891326-chr11:65027495..65030120,4	MCF-7	breast:
8	chr11:64862442..64864191-chr11:64887487..64890619,3	K562	blood:
9	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
10	chr11:64887057..64892358-chr11:65027493..65031887,5	K562	blood:
11	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
12	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
13	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
14	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
15	chr11:64793339..64795778-chr11:64887755..64890095,2	K562	blood:
16	chr11:64883613..64891269-chr11:65027573..65033885,11	K562	blood:

No data

Variant related genes	Relation type
MRPL49	TF binding region
ZNHIT2	TF binding region
ENSG00000255200	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17883382	1.00[AMR][1000 genomes]
rs17887152	1.00[AMR][1000 genomes]
rs34032604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34713603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34997862	1.00[AMR][1000 genomes]
rs4149845	1.00[AMR][1000 genomes]
rs41541317	1.00[AMR][1000 genomes]
rs4647578	1.00[AMR][1000 genomes]
rs71541944	1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64885200-64888200	Weak transcription	Small Intestine	intestine
2	chr11:64885200-64888400	Genic enhancers	Primary B cells from cord blood	blood
3	chr11:64885200-64888400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:64885200-64888800	Weak transcription	Ovary	ovary
5	chr11:64885200-64889000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:64885400-64888200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:64885400-64888200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:64885400-64888200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:64885400-64888200	Strong transcription	NHLF	lung
10	chr11:64885400-64888400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:64885400-64888400	Genic enhancers	Fetal Intestine Large	intestine
12	chr11:64885400-64888400	Weak transcription	Right Atrium	heart
13	chr11:64885400-64888400	Strong transcription	Right Ventricle	heart
14	chr11:64885400-64888600	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr11:64885400-64888600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:64885600-64888200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:64885600-64888200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:64885600-64888200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:64885600-64888200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:64885600-64888200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:64885600-64888400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:64885600-64888400	Strong transcription	Colonic Mucosa	Colon
23	chr11:64885600-64888400	Strong transcription	Lung	lung
24	chr11:64885600-64888400	Strong transcription	Osteobl	bone
25	chr11:64885800-64888200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:64885800-64888200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:64885800-64888200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:64885800-64888200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:64885800-64888200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:64885800-64888400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:64885800-64888400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr11:64885800-64888600	Genic enhancers	Liver	Liver
33	chr11:64885800-64888800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:64886000-64888200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:64886000-64888200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:64886000-64888200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:64886000-64888200	Strong transcription	Brain Germinal Matrix	brain
38	chr11:64886000-64888200	Strong transcription	Brain Substantia Nigra	brain
39	chr11:64886000-64888200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:64886000-64888200	Strong transcription	Fetal Brain Female	brain
41	chr11:64886000-64888200	Strong transcription	Stomach Mucosa	stomach
42	chr11:64886000-64888200	Strong transcription	Spleen	Spleen
43	chr11:64886000-64888200	Strong transcription	HSMM	muscle
44	chr11:64886000-64888400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr11:64886000-64888400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:64886000-64888400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:64886000-64888400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:64886000-64888400	Strong transcription	Brain Anterior Caudate	brain
49	chr11:64886000-64888400	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr11:64886200-64888200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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