Variant report

Variant	rs557635816
Chromosome Location	chr11:76091961-76091962
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	POLR2A	chr11:76091458-76092747	Gliobla	brain:	n/a	n/a
2	HEY1	chr11:76091708-76092691	HepG2	liver:	n/a	chr11:76092114-76092129 chr11:76092111-76092126
3	ZNF143	chr11:76091212-76092713	Hela-S3	cervix:	n/a	chr11:76092165-76092180 chr11:76091675-76091685 chr11:76091907-76091925
4	ETS1	chr11:76091957-76092369	K562	blood:	n/a	chr11:76092115-76092126 chr11:76092112-76092123 chr11:76092289-76092300
5	MAZ	chr11:76090859-76093234	IMR90	lung:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
6	POLR2A	chr11:76091614-76092524	A549	lung:	n/a	n/a
7	POLR2A	chr11:76091168-76092689	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr11:76091271-76092521	K562	blood:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
9	TAF1	chr11:76091900-76092703	A549	lung:	n/a	n/a
10	POLR2A	chr11:76091434-76092669	A549	lung:	n/a	n/a
11	POLR2A	chr11:76091494-76092699	MCF-7	breast:	n/a	n/a
12	CREB1	chr11:76091483-76092738	A549	lung:	n/a	n/a
13	POLR2A	chr11:76091322-76092702	GM12892	blood:	n/a	n/a
14	CHD2	chr11:76091154-76092616	Hela-S3	cervix:	n/a	chr11:76092132-76092142
15	MAZ	chr11:76091498-76092511	HepG2	liver:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
16	TAF1	chr11:76091955-76092233	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:76091303-76092720	K562	blood:	n/a	n/a
18	POLR2A	chr11:76091751-76092671	HepG2	liver:	n/a	n/a
19	E2F6	chr11:76091224-76092688	K562	blood:	n/a	chr11:76091916-76091925 chr11:76092133-76092145 chr11:76092363-76092372 chr11:76092116-76092126 chr11:76091524-76091533 chr11:76092310-76092319 chr11:76092113-76092123 chr11:76091727-76091737
20	UBTF	chr11:76091266-76092627	K562	blood:	n/a	n/a
21	POLR2A	chr11:76091931-76092681	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr11:76091715-76092631	K562	blood:	n/a	n/a
23	TFAP2A	chr11:76091716-76092548	Hela-S3	cervix:	n/a	chr11:76092185-76092193 chr11:76092185-76092193 chr11:76092185-76092193 chr11:76092184-76092195
24	POLR2A	chr11:76091417-76092804	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr11:76091123-76092791	Hela-S3	cervix:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
26	ATF2	chr11:76091959-76092619	GM12878	blood:	n/a	n/a
27	MYBL2	chr11:76091926-76092677	HepG2	liver:	n/a	n/a
28	CHD2	chr11:76091425-76092215	K562	blood:	n/a	chr11:76092132-76092142
29	POLR2A	chr11:76091314-76092645	K562	blood:	n/a	n/a
30	CHD2	chr11:76091841-76092607	GM12878	blood:	n/a	chr11:76092132-76092142
31	CTCF	chr11:76091954-76092233	HepG2	liver:	n/a	n/a
32	HEY1	chr11:76091649-76091971	K562	blood:	n/a	n/a
33	BCLAF1	chr11:76091884-76092675	GM12878	blood:	n/a	chr11:76092312-76092321 chr11:76092111-76092120 chr11:76092219-76092228 chr11:76092114-76092123 chr11:76092117-76092126 chr11:76092313-76092326 chr11:76092268-76092281 chr11:76092112-76092125 chr11:76092111-76092124
34	POLR2A	chr11:76091534-76092585	HCT-116	colon:	n/a	n/a
35	HCFC1	chr11:76090021-76093194	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:76091915-76092692	SK-N-MC	brain:	n/a	n/a
37	YY1	chr11:76091401-76092495	HepG2	liver:	n/a	chr11:76091759-76091773 chr11:76092112-76092123 chr11:76092217-76092228 chr11:76092115-76092126 chr11:76091764-76091778 chr11:76092291-76092300 chr11:76091720-76091734 chr11:76092115-76092124 chr11:76091736-76091750 chr11:76092112-76092121
38	POLR2A	chr11:76091258-76092644	GM19099	blood:	n/a	n/a
39	ZNF143	chr11:76091246-76092472	GM12878	blood:	n/a	chr11:76092165-76092180 chr11:76091675-76091685 chr11:76091907-76091925
40	EP300	chr11:76091901-76092678	ECC-1	luminal epithelium:	n/a	chr11:76092116-76092125 chr11:76092113-76092122 chr11:76092048-76092064
41	POLR2A	chr11:76091077-76092647	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:76091642-76092682	HUVEC	blood vessel:	n/a	n/a
43	PML	chr11:76091929-76092812	GM12878	blood:	n/a	n/a
44	SIN3A	chr11:76091073-76092795	H1-hESC	embryonic stem cell:	n/a	chr11:76092047-76092060 chr11:76091564-76091577
45	MAX	chr11:76091954-76092837	SK-N-SH	brain:	n/a	n/a
46	MAX	chr11:76091941-76092845	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:76091302-76092739	GM18951	blood:	n/a	n/a
48	TAF1	chr11:76091482-76092567	HepG2	liver:	n/a	n/a
49	CTCF	chr11:76091960-76092110	NHDF-neo	bronchial:	n/a	n/a
50	TBP	chr11:76091462-76092615	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76079303..76082514-chr11:76090617..76092781,5	K562	blood:
2	chr11:76089990..76094695-chr11:76100568..76104844,7	MCF-7	breast:
3	chr1:70686774..70687532-chr11:76091229..76092168,2	HCT-116	colon:
4	chr11:76089758..76095735-chr11:76153234..76157826,15	MCF-7	breast:
5	chr11:76090234..76093573-chr11:76154824..76158196,8	MCF-7	breast:
6	chr11:76090615..76095251-chr11:76152894..76157527,10	K562	blood:
7	chr11:76091642..76092465-chr11:76155561..76156248,2	Hela-S3	cervix:
8	chr11:76071533..76073218-chr11:76090981..76092790,2	K562	blood:
9	chr11:76091836..76092375-chr5:137514081..137514947,2	Hela-S3	cervix:
10	chr11:76091181..76093702-chr11:76114020..76116665,2	K562	blood:

Variant related genes	Relation type
ENSG00000179240	TF binding region
ENSG00000112984	Chromatin interaction
ENSG00000158636	Chromatin interaction
ENSG00000137492	Chromatin interaction
ENSG00000255135	Chromatin interaction
ENSG00000201756	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000112983	Chromatin interaction
ENSG00000272301	Chromatin interaction
ENSG00000271757	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440498	chr11:76090729-76093277	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr11:76090200-76093400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:76090400-76092800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:76090400-76093000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:76090600-76092600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:76090600-76092600	Active TSS	HSMM	muscle
6	chr11:76090600-76093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:76090600-76093000	Active TSS	Pancreas	Pancrea
8	chr11:76090600-76093400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:76090600-76093400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:76090600-76093400	Active TSS	Lung	lung
11	chr11:76090800-76092400	Active TSS	HMEC	breast
12	chr11:76090800-76092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:76090800-76092800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:76090800-76092800	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr11:76090800-76092800	Active TSS	NHLF	lung
16	chr11:76090800-76093000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:76090800-76093000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:76090800-76093000	Active TSS	Right Ventricle	heart
19	chr11:76090800-76093000	Active TSS	NHDF-Ad	bronchial
20	chr11:76090800-76093200	Active TSS	Fetal Muscle Trunk	muscle
21	chr11:76090800-76093400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:76090800-76093400	Active TSS	A549	lung
23	chr11:76091000-76092800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:76091000-76092800	Active TSS	Esophagus	oesophagus
25	chr11:76091000-76092800	Active TSS	Gastric	stomach
26	chr11:76091000-76092800	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr11:76091000-76093000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:76091000-76093000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:76091000-76093000	Active TSS	Aorta	Aorta
30	chr11:76091000-76093200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:76091000-76093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:76091000-76093400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:76091200-76092400	Active TSS	Dnd41	blood
34	chr11:76091200-76092400	Active TSS	GM12878-XiMat	blood
35	chr11:76091200-76092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:76091200-76092600	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:76091200-76092600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr11:76091200-76092600	Active TSS	Fetal Lung	lung
39	chr11:76091200-76092600	Active TSS	Small Intestine	intestine
40	chr11:76091200-76092600	Active TSS	Hela-S3	cervix
41	chr11:76091200-76092600	Active TSS	HSMMtube	muscle
42	chr11:76091200-76092600	Active TSS	NH-A	brain
43	chr11:76091200-76092600	Active TSS	NHEK	skin
44	chr11:76091200-76092600	Active TSS	Osteobl	bone
45	chr11:76091200-76092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:76091200-76092800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:76091200-76092800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:76091200-76092800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:76091200-76092800	Active TSS	Brain Anterior Caudate	brain
50	chr11:76091200-76092800	Active TSS	Brain Hippocampus Middle	brain

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