Variant report

Variant	rs570925126
Chromosome Location	chr11:76091719-76091720
allele	C/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	PAX5	chr11:76091490-76091827	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:76091458-76092747	Gliobla	brain:	n/a	n/a
3	HEY1	chr11:76091708-76092691	HepG2	liver:	n/a	chr11:76092114-76092129 chr11:76092111-76092126
4	MAX	chr11:76091064-76091909	MCF-7	breast:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
5	ZNF143	chr11:76091212-76092713	Hela-S3	cervix:	n/a	chr11:76092165-76092180 chr11:76091675-76091685 chr11:76091907-76091925
6	MAZ	chr11:76090859-76093234	IMR90	lung:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
7	POLR2A	chr11:76091614-76092524	A549	lung:	n/a	n/a
8	POLR2A	chr11:76091168-76092689	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr11:76091271-76092521	K562	blood:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
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	POLR2A	chr11:76091303-76092720	K562	blood:	n/a	n/a
17	SIN3AK20	chr11:76091246-76091924	K562	blood:	n/a	n/a
18	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
19	POLR2A	chr11:76091086-76091882	H1-neurons	neurons:	n/a	n/a
20	UBTF	chr11:76091266-76092627	K562	blood:	n/a	n/a
21	EGR1	chr11:76091422-76091834	K562	blood:	n/a	chr11:76091609-76091619 chr11:76091611-76091625 chr11:76091614-76091627
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	CHD2	chr11:76091425-76092215	K562	blood:	n/a	chr11:76092132-76092142
27	POLR2A	chr11:76091314-76092645	K562	blood:	n/a	n/a
28	ELF1	chr11:76091600-76091904	K562	blood:	n/a	chr11:76091839-76091852 chr11:76091720-76091732
29	HEY1	chr11:76091649-76091971	K562	blood:	n/a	n/a
30	POLR2A	chr11:76091534-76092585	HCT-116	colon:	n/a	n/a
31	HCFC1	chr11:76090021-76093194	Hela-S3	cervix:	n/a	n/a
32	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
33	POLR2A	chr11:76091258-76092644	GM19099	blood:	n/a	n/a
34	ZNF143	chr11:76091246-76092472	GM12878	blood:	n/a	chr11:76092165-76092180 chr11:76091675-76091685 chr11:76091907-76091925
35	POLR2A	chr11:76091077-76092647	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:76091642-76092682	HUVEC	blood vessel:	n/a	n/a
37	SIN3A	chr11:76091073-76092795	H1-hESC	embryonic stem cell:	n/a	chr11:76092047-76092060 chr11:76091564-76091577
38	POLR2A	chr11:76091302-76092739	GM18951	blood:	n/a	n/a
39	TAF1	chr11:76091482-76092567	HepG2	liver:	n/a	n/a
40	MAX	chr11:76091206-76091920	ECC-1	luminal epithelium:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
41	TBP	chr11:76091462-76092615	K562	blood:	n/a	n/a
42	ELF1	chr11:76091708-76091952	K562	blood:	n/a	chr11:76091839-76091852 chr11:76091720-76091732
43	POLR2A	chr11:76091123-76092703	Hela-S3	cervix:	n/a	n/a
44	YY1	chr11:76091359-76092348	GM12892	blood:	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
45	POLR2A	chr11:76091258-76092649	Hela-S3	cervix:	n/a	n/a
46	MAX	chr11:76091142-76091938	K562	blood:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
47	SIN3AK20	chr11:76091105-76091932	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr11:76091249-76092600	K562	blood:	n/a	n/a
49	MYC	chr11:76091086-76092707	MCF10A-Er-Src	breast:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595
50	MYC	chr11:76091374-76092445	MCF-7	breast:	n/a	chr11:76091582-76091597 chr11:76091583-76091594 chr11:76091580-76091595

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:76091674-76091724	HIPEpiC	eye:	n/a
2	chr11:76091674-76091724	IMR90	lung:	fetal
3	chr11:76091674-76091724	HNPCEpiC	eye:	n/a
4	chr11:76091674-76091724	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:76091674-76091724	HRE	kidney:	n/a
6	chr11:76091674-76091724	K562	blood:	n/a
7	chr11:76091674-76091724	HCT-116	colon:	n/a
8	chr11:76091674-76091724	T-47D	breast:	n/a
9	chr11:76091674-76091724	NB4	blood:	n/a
10	chr11:76091674-76091724	HCPEpiC	choroid plexus:	n/a
11	chr11:76091674-76091724	ProgFib	skin:	n/a
12	chr11:76091674-76091724	SK-N-SH_RA	brain:	n/a
13	chr11:76091674-76091724	HCM	heart:	n/a
14	chr11:76091674-76091724	SK-N-SH	brain:	n/a
15	chr11:76091674-76091724	PrEC	prostate:	n/a
16	chr11:76091674-76091724	PFSK-1	brain:	n/a
17	chr11:76091674-76091724	SAEC	small airway:	n/a
18	chr11:76091674-76091724	GM06990	blood:	n/a
19	chr11:76091674-76091724	AG10803	skin:	n/a
20	chr11:76091674-76091724	NHDF-neo	bronchial:	n/a
21	chr11:76091674-76091724	LNCaP	prostate:	n/a
22	chr11:76091674-76091724	Jurkat	blood:	n/a
23	chr11:76091674-76091724	BE2_C	brain:	n/a
24	chr11:76091674-76091724	CMK	blood:	n/a
25	chr11:76091674-76091724	BJ	skin:	n/a
26	chr11:76091674-76091724	Hepatocyte	liver:	n/a
27	chr11:76091674-76091724	ovcar-3	ovarian:	n/a
28	chr11:76091674-76091724	HRPEpiC	eye:	n/a
29	chr11:76091674-76091724	SKMC	muscle:	n/a
30	chr11:76091674-76091724	RPTEC	kidney:	n/a
31	chr11:76091674-76091724	Hela-S3	cervix:	n/a
32	chr11:76091674-76091724	GM19239	blood:	n/a
33	chr11:76091674-76091724	AG04449	skin:	fetal
34	chr11:76091674-76091724	HAEpiC	amniotic membrane:	n/a
35	chr11:76091674-76091724	AG04450	lung:	fetal
36	chr11:76091674-76091724	MCF10A-Er-Src	breast:	n/a
37	chr11:76091674-76091724	ECC-1	luminal epithelium:	n/a
38	chr11:76091674-76091724	HUVEC	blood vessel:	n/a
39	chr11:76091674-76091724	NT2-D1	testis:	n/a
40	chr11:76091674-76091724	U87	brain:	n/a
41	chr11:76091674-76091724	Caco-2	colon:	n/a
42	chr11:76091674-76091724	HEK293	kidney:	embryo
43	chr11:76091674-76091724	MCF-7	breast:	n/a
44	chr11:76091674-76091724	NH-A	brain:	n/a
45	chr11:76091674-76091724	HCF	heart:	n/a
46	chr11:76091674-76091724	GM12878	blood:	n/a
47	chr11:76091674-76091724	AoSMC	blood vessel:	n/a
48	chr11:76091674-76091724	SK-N-MC	brain:	n/a
49	chr11:76091674-76091724	NHBE	bronchial:	n/a
50	chr11:76091674-76091724	GM12892	blood:	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	chr11:76091181..76093702-chr11:76114020..76116665,2	K562	blood:

Variant related genes	Relation type
ENSG00000179240	TF binding region
ENSG00000179240	CpG island
ENSG00000137492	Chromatin interaction
ENSG00000272301	Chromatin interaction
ENSG00000201756	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000271757	Chromatin interaction
ENSG00000158636	Chromatin interaction
ENSG00000255135	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	chr11:76090600-76091800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr11:76090600-76092600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:76090600-76092600	Active TSS	HSMM	muscle
7	chr11:76090600-76093000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:76090600-76093000	Active TSS	Pancreas	Pancrea
9	chr11:76090600-76093400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:76090600-76093400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:76090600-76093400	Active TSS	Lung	lung
12	chr11:76090800-76092400	Active TSS	HMEC	breast
13	chr11:76090800-76092800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:76090800-76092800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:76090800-76092800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:76090800-76092800	Active TSS	NHLF	lung
17	chr11:76090800-76093000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:76090800-76093000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:76090800-76093000	Active TSS	Right Ventricle	heart
20	chr11:76090800-76093000	Active TSS	NHDF-Ad	bronchial
21	chr11:76090800-76093200	Active TSS	Fetal Muscle Trunk	muscle
22	chr11:76090800-76093400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:76090800-76093400	Active TSS	A549	lung
24	chr11:76091000-76092800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:76091000-76092800	Active TSS	Esophagus	oesophagus
26	chr11:76091000-76092800	Active TSS	Gastric	stomach
27	chr11:76091000-76092800	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr11:76091000-76093000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:76091000-76093000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:76091000-76093000	Active TSS	Aorta	Aorta
31	chr11:76091000-76093200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:76091000-76093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:76091000-76093400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:76091200-76092400	Active TSS	Dnd41	blood
35	chr11:76091200-76092400	Active TSS	GM12878-XiMat	blood
36	chr11:76091200-76092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:76091200-76092600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:76091200-76092600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr11:76091200-76092600	Active TSS	Fetal Lung	lung
40	chr11:76091200-76092600	Active TSS	Small Intestine	intestine
41	chr11:76091200-76092600	Active TSS	Hela-S3	cervix
42	chr11:76091200-76092600	Active TSS	HSMMtube	muscle
43	chr11:76091200-76092600	Active TSS	NH-A	brain
44	chr11:76091200-76092600	Active TSS	NHEK	skin
45	chr11:76091200-76092600	Active TSS	Osteobl	bone
46	chr11:76091200-76092800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:76091200-76092800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:76091200-76092800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:76091200-76092800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:76091200-76092800	Active TSS	Brain Anterior Caudate	brain

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