Variant report

Variant	rs546644930
Chromosome Location	chr11:9593985-9593986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:9593222-9598393	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:9593829-9601404	MCF10A-Er-Src	breast:	n/a	n/a
3	HEY1	chr11:9593643-9593986	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:9593651-9594066	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:9593092-9599445	IMR90	lung:	n/a	n/a
6	HEY1	chr11:9593765-9594068	K562	blood:	n/a	n/a
7	SIN3AK20	chr11:9593713-9597257	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:9593721-9599676	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:9593978-9594024	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:9592789-9600461	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:9593913-9594055	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:9593229-9595672	PANC-1	pancreas:	n/a	n/a
13	HEY1	chr11:9593661-9594039	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:9593649-9597149	K562	blood:	n/a	n/a
15	POLR2A	chr11:9593209-9597897	PANC-1	pancreas:	n/a	n/a
16	HA-E2F1	chr11:9593538-9594052	MCF-7	breast:	n/a	n/a
17	FOXA2	chr11:9593628-9594052	A549	lung:	n/a	n/a
18	POLR2A	chr11:9593612-9595558	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:9592835-9595687	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
2	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
3	chr11:8702253..8704416-chr11:9593339..9594880,2	MCF-7	breast:
4	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
5	chr11:9571322..9573839-chr11:9593135..9594742,2	K562	blood:
6	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
7	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
8	chr11:9593146..9594870-chr11:9635191..9636726,2	MCF-7	breast:

No data

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000166478	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000243964	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv3365334	chr11:9593876-9597474	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3439005	chr11:9593901-9596949	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
2	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
3	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
4	chr11:9585200-9594400	Weak transcription	Lung	lung
5	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
6	chr11:9586600-9594000	Enhancers	Placenta	Placenta
7	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
8	chr11:9588000-9594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:9588000-9594400	Weak transcription	Gastric	stomach
10	chr11:9588600-9594000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:9589600-9594200	Enhancers	Primary B cells from cord blood	blood
12	chr11:9589800-9594200	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:9590000-9594200	Weak transcription	Fetal Brain Male	brain
14	chr11:9590000-9594200	Weak transcription	Ovary	ovary
15	chr11:9590600-9594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:9590600-9594200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:9591000-9594000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9591000-9594000	Weak transcription	Fetal Brain Female	brain
19	chr11:9591000-9594000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:9591000-9594200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:9591000-9594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:9591200-9594000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:9591200-9594000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:9591200-9594000	Weak transcription	Adipose Nuclei	Adipose
25	chr11:9591200-9594200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:9591200-9594200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:9591200-9594400	Weak transcription	Pancreas	Pancrea
28	chr11:9591400-9594200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:9591400-9594200	Weak transcription	Colonic Mucosa	Colon
30	chr11:9591400-9594200	Weak transcription	Right Ventricle	heart
31	chr11:9591600-9594000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:9591600-9594200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:9591600-9594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:9591600-9594200	Weak transcription	Primary T cells from cord blood	blood
35	chr11:9591600-9594200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:9591600-9594200	Weak transcription	Aorta	Aorta
37	chr11:9591600-9594200	Weak transcription	Left Ventricle	heart
38	chr11:9591600-9594400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:9591600-9594600	Weak transcription	Small Intestine	intestine
40	chr11:9591600-9596200	Weak transcription	Fetal Heart	heart
41	chr11:9591800-9594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:9591800-9594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:9591800-9594000	Weak transcription	Hela-S3	cervix
44	chr11:9591800-9594200	Weak transcription	Right Atrium	heart
45	chr11:9592000-9594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:9592200-9594200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:9592200-9594400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:9592400-9594200	Weak transcription	Liver	Liver
49	chr11:9592600-9594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:9592800-9594200	Enhancers	Fetal Stomach	stomach

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