Variant report

Variant	rs545511257
Chromosome Location	chr11:8102738-8102739
allele	G/T
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	chr11:8102691-8102964	A549	lung:	n/a	n/a
2	POLR2A	chr11:8102422-8102996	A549	lung:	n/a	n/a
3	POLR2A	chr11:8102500-8102979	HUVEC	blood vessel:	n/a	n/a
4	MXI1	chr11:8101827-8108407	SK-N-SH	brain:	n/a	chr11:8104003-8104018 chr11:8103574-8103583
5	POLR2A	chr11:8102699-8102861	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:8102570-8102946	HepG2	liver:	n/a	n/a
7	CTCF	chr11:8102724-8102859	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr11:8102286-8102925	H1-hESC	embryonic stem cell:	n/a	chr11:8102415-8102424 chr11:8102601-8102610 chr11:8102440-8102447 chr11:8102766-8102777 chr11:8102439-8102447 chr11:8102767-8102782 chr11:8102431-8102446 chr11:8102439-8102447 chr11:8102438-8102448 chr11:8102766-8102777 chr11:8102804-8102813
9	CREB1	chr11:8102469-8102915	A549	lung:	n/a	n/a
10	POLR2A	chr11:8102705-8102880	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:8102544-8102898	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:8102726-8102969	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:8102325-8102940	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:8102686-8102936	A549	lung:	n/a	n/a
15	MXI1	chr11:8102685-8103918	IMR90	lung:	n/a	chr11:8103574-8103583
16	TAF1	chr11:8102686-8102952	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOXP2	chr11:8102702-8102896	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr11:8102488-8102914	A549	lung:	n/a	n/a
19	POLR2A	chr11:8102657-8103038	ProgFib	skin:	n/a	n/a
20	POLR2A	chr11:8102689-8103504	HepG2	liver:	n/a	n/a
21	CTCF	chr11:8102600-8102750	HEK293	kidney:	n/a	n/a
22	REST	chr11:8101910-8103001	H1-neurons	neurons:	n/a	chr11:8102894-8102904 chr11:8102887-8102900
23	MAX	chr11:8102200-8102848	A549	lung:	n/a	n/a
24	MAX	chr11:8102410-8103616	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:8102727-8102923	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAZ	chr11:8102102-8104439	IMR90	lung:	n/a	chr11:8104328-8104341 chr11:8104330-8104340 chr11:8104050-8104059 chr11:8104330-8104339 chr11:8104331-8104338 chr11:8104330-8104339 chr11:8103843-8103853 chr11:8104329-8104340 chr11:8104329-8104339 chr11:8104129-8104140
27	POLR2A	chr11:8102271-8104651	H1-neurons	neurons:	n/a	n/a
28	MAX	chr11:8102141-8103803	A549	lung:	n/a	n/a
29	POLR2A	chr11:8102695-8102919	A549	lung:	n/a	n/a
30	POLR2A	chr11:8102276-8102998	H1-neurons	neurons:	n/a	n/a
31	MAX	chr11:8102198-8102933	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr11:8102397-8103031	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr11:8102604-8102946	Gliobla	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8102717-8102767	NB4	blood:	n/a
2	chr11:8102717-8102767	A549	lung:	n/a
3	chr11:8102717-8102767	HEEpiC	esophagus:	n/a
4	chr11:8102717-8102767	ovcar-3	ovarian:	n/a
5	chr11:8102717-8102767	HL-60	blood:	n/a
6	chr11:8102717-8102767	BE2_C	brain:	n/a
7	chr11:8102717-8102767	PANC-1	pancreas:	n/a
8	chr11:8102717-8102767	GM19239	blood:	n/a
9	chr11:8102717-8102767	NH-A	brain:	n/a
10	chr11:8102717-8102767	RPTEC	kidney:	n/a
11	chr11:8102717-8102767	SK-N-SH	brain:	n/a
12	chr11:8102717-8102767	SAEC	small airway:	n/a
13	chr11:8102717-8102767	HRCEpiC	kidney:	n/a
14	chr11:8102717-8102767	HEK293	kidney:	embryo
15	chr11:8102717-8102767	HepG2	liver:	n/a
16	chr11:8102717-8102767	Hepatocyte	liver:	n/a
17	chr11:8102717-8102767	ProgFib	skin:	n/a
18	chr11:8102717-8102767	HIPEpiC	eye:	n/a
19	chr11:8102717-8102767	AG09319	gingival:	n/a
20	chr11:8102717-8102767	PFSK-1	brain:	n/a
21	chr11:8102717-8102767	NHDF-neo	bronchial:	n/a
22	chr11:8102717-8102767	HMEC	breast:	n/a
23	chr11:8102717-8102767	LNCaP	prostate:	n/a
24	chr11:8102717-8102767	AoSMC	blood vessel:	n/a
25	chr11:8102717-8102767	HCM	heart:	n/a
26	chr11:8102717-8102767	HNPCEpiC	eye:	n/a
27	chr11:8102717-8102767	CMK	blood:	n/a
28	chr11:8102717-8102767	H1-hESC	embryonic stem cell:	embryo
29	chr11:8102717-8102767	HCT-116	colon:	n/a
30	chr11:8102717-8102767	NHBE	bronchial:	n/a
31	chr11:8102717-8102767	Caco-2	colon:	n/a
32	chr11:8102717-8102767	NT2-D1	testis:	n/a
33	chr11:8102717-8102767	Hela-S3	cervix:	n/a
34	chr11:8102717-8102767	BJ	skin:	n/a
35	chr11:8102717-8102767	AG04449	skin:	fetal
36	chr11:8102717-8102767	U87	brain:	n/a
37	chr11:8102717-8102767	AG09309	skin:	n/a
38	chr11:8102717-8102767	MCF-7	breast:	n/a
39	chr11:8102717-8102767	GM12891	blood:	n/a
40	chr11:8102717-8102767	T-47D	breast:	n/a
41	chr11:8102717-8102767	HAEpiC	amniotic membrane:	n/a
42	chr11:8102717-8102767	GM06990	blood:	n/a
43	chr11:8102717-8102767	AG10803	skin:	n/a
44	chr11:8102717-8102767	HCPEpiC	choroid plexus:	n/a
45	chr11:8102717-8102767	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:8102717-8102767	HRE	kidney:	n/a
47	chr11:8102717-8102767	HCF	heart:	n/a
48	chr11:8102717-8102767	AG04450	lung:	fetal
49	chr11:8102717-8102767	ECC-1	luminal epithelium:	n/a
50	chr11:8102717-8102767	IMR90	lung:	fetal

Variant related genes	Relation type
TUB	TF binding region
TUB	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3421936	chr11:8101601-8104149	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3412612	chr11:8102026-8104049	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8101800-8103400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:8102000-8103200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:8102000-8103200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:8102000-8103200	Active TSS	Brain Anterior Caudate	brain
5	chr11:8102000-8103200	Active TSS	Colon Smooth Muscle	Colon
6	chr11:8102000-8103200	Active TSS	Osteobl	bone
7	chr11:8102000-8103400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:8102000-8103400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:8102000-8103400	Active TSS	Brain Angular Gyrus	brain
10	chr11:8102000-8103400	Active TSS	Fetal Brain Female	brain
11	chr11:8102000-8103400	Active TSS	Fetal Kidney	kidney
12	chr11:8102000-8103600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:8102200-8102800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
14	chr11:8102200-8103000	Active TSS	Esophagus	oesophagus
15	chr11:8102200-8103200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr11:8102200-8103200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:8102200-8103200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:8102200-8103200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:8102200-8103200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
20	chr11:8102200-8103200	Active TSS	Brain Cingulate Gyrus	brain
21	chr11:8102200-8103200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:8102200-8103200	Active TSS	Brain Substantia Nigra	brain
23	chr11:8102200-8103200	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr11:8102200-8103200	Active TSS	Left Ventricle	heart
25	chr11:8102200-8103200	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:8102200-8103200	Active TSS	Right Atrium	heart
27	chr11:8102200-8103200	Active TSS	Right Ventricle	heart
28	chr11:8102200-8103400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:8102200-8103400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:8102200-8103400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:8102200-8103400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:8102200-8103400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:8102200-8103400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:8102200-8103400	Active TSS	Ovary	ovary
35	chr11:8102200-8103400	Bivalent/Poised TSS	Thymus	Thymus
36	chr11:8102200-8103400	Active TSS	HSMM	muscle
37	chr11:8102200-8103400	Active TSS	NHDF-Ad	bronchial
38	chr11:8102200-8103600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:8102200-8103600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:8102200-8103600	Active TSS	Aorta	Aorta
41	chr11:8102200-8103600	Active TSS	Psoas Muscle	Psoas
42	chr11:8102200-8103600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr11:8102200-8103800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:8102200-8103800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
45	chr11:8102400-8103200	Active TSS	Fetal Lung	lung
46	chr11:8102400-8103200	Bivalent/Poised TSS	Fetal Stomach	stomach
47	chr11:8102400-8103200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr11:8102400-8103200	Bivalent/Poised TSS	NHEK	skin
49	chr11:8102400-8103400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:8102400-8103400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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