Variant report

Variant	rs557469895
Chromosome Location	chr11:8102325-8102326
allele	C/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	MXI1	chr11:8101827-8108407	SK-N-SH	brain:	n/a	chr11:8104003-8104018 chr11:8103574-8103583
2	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
3	KAP1	chr11:8101930-8102486	HEK293	kidney:	n/a	n/a
4	POLR2A	chr11:8102325-8102940	PFSK-1	brain:	n/a	n/a
5	SIN3A	chr11:8102295-8102638	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr11:8101910-8103001	H1-neurons	neurons:	n/a	chr11:8102894-8102904 chr11:8102887-8102900
7	MAX	chr11:8102200-8102848	A549	lung:	n/a	n/a
8	TEAD4	chr11:8102241-8102569	H1-hESC	embryonic stem cell:	n/a	n/a
9	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
10	ZNF143	chr11:8102196-8102658	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:8102271-8104651	H1-neurons	neurons:	n/a	n/a
12	MAX	chr11:8102141-8103803	A549	lung:	n/a	n/a
13	POLR2A	chr11:8102276-8102998	H1-neurons	neurons:	n/a	n/a
14	MAX	chr11:8102198-8102933	H1-hESC	embryonic stem cell:	n/a	n/a
15	RCOR1	chr11:8101856-8102735	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:8102311-8102361	AG04449	skin:	fetal
2	chr11:8102311-8102361	AG09309	skin:	n/a
3	chr11:8102311-8102361	CMK	blood:	n/a
4	chr11:8102311-8102361	HIPEpiC	eye:	n/a
5	chr11:8102311-8102361	PANC-1	pancreas:	n/a
6	chr11:8102311-8102361	NB4	blood:	n/a
7	chr11:8102311-8102361	IMR90	lung:	fetal
8	chr11:8102311-8102361	HRE	kidney:	n/a
9	chr11:8102311-8102361	HepG2	liver:	n/a
10	chr11:8102311-8102361	HAEpiC	amniotic membrane:	n/a
11	chr11:8102311-8102361	HCM	heart:	n/a
12	chr11:8102311-8102361	NHBE	bronchial:	n/a
13	chr11:8102311-8102361	LNCaP	prostate:	n/a
14	chr11:8102311-8102361	BE2_C	brain:	n/a
15	chr11:8102311-8102361	NHDF-neo	bronchial:	n/a
16	chr11:8102311-8102361	ECC-1	luminal epithelium:	n/a
17	chr11:8102311-8102361	HUVEC	blood vessel:	n/a
18	chr11:8102311-8102361	GM06990	blood:	n/a
19	chr11:8102311-8102361	PFSK-1	brain:	n/a
20	chr11:8102311-8102361	MCF10A-Er-Src	breast:	n/a
21	chr11:8102311-8102361	NT2-D1	testis:	n/a
22	chr11:8102311-8102361	BJ	skin:	n/a
23	chr11:8102311-8102361	MCF-7	breast:	n/a
24	chr11:8102311-8102361	HCPEpiC	choroid plexus:	n/a
25	chr11:8102311-8102361	GM12892	blood:	n/a
26	chr11:8102311-8102361	HNPCEpiC	eye:	n/a
27	chr11:8102311-8102361	T-47D	breast:	n/a
28	chr11:8102311-8102361	K562	blood:	n/a
29	chr11:8102311-8102361	HRCEpiC	kidney:	n/a
30	chr11:8102311-8102361	AoSMC	blood vessel:	n/a
31	chr11:8102311-8102361	HMEC	breast:	n/a
32	chr11:8102311-8102361	ovcar-3	ovarian:	n/a
33	chr11:8102311-8102361	SKMC	muscle:	n/a
34	chr11:8102311-8102361	AG09319	gingival:	n/a
35	chr11:8102311-8102361	PrEC	prostate:	n/a
36	chr11:8102311-8102361	SAEC	small airway:	n/a
37	chr11:8102311-8102361	Hepatocyte	liver:	n/a
38	chr11:8102311-8102361	AG10803	skin:	n/a
39	chr11:8102311-8102361	HEEpiC	esophagus:	n/a
40	chr11:8102311-8102361	HL-60	blood:	n/a
41	chr11:8102311-8102361	H1-hESC	embryonic stem cell:	embryo
42	chr11:8102311-8102361	NH-A	brain:	n/a
43	chr11:8102311-8102361	A549	lung:	n/a
44	chr11:8102311-8102361	ProgFib	skin:	n/a
45	chr11:8102311-8102361	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:8102311-8102361	HCT-116	colon:	n/a
47	chr11:8102311-8102361	U87	brain:	n/a
48	chr11:8102311-8102361	GM12891	blood:	n/a
49	chr11:8102311-8102361	SK-N-SH	brain:	n/a
50	chr11:8102311-8102361	HEK293	kidney:	embryo

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8101800-8103400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:8102000-8102400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr11:8102000-8102600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:8102000-8102600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:8102000-8102600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:8102000-8102600	Flanking Active TSS	Fetal Brain Male	brain
7	chr11:8102000-8102600	Enhancers	Fetal Heart	heart
8	chr11:8102000-8102600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr11:8102000-8102600	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:8102000-8103200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:8102000-8103200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:8102000-8103200	Active TSS	Brain Anterior Caudate	brain
13	chr11:8102000-8103200	Active TSS	Colon Smooth Muscle	Colon
14	chr11:8102000-8103200	Active TSS	Osteobl	bone
15	chr11:8102000-8103400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:8102000-8103400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:8102000-8103400	Active TSS	Brain Angular Gyrus	brain
18	chr11:8102000-8103400	Active TSS	Fetal Brain Female	brain
19	chr11:8102000-8103400	Active TSS	Fetal Kidney	kidney
20	chr11:8102000-8103600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:8102200-8102400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:8102200-8102400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:8102200-8102400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr11:8102200-8102400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr11:8102200-8102400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr11:8102200-8102400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr11:8102200-8102400	Flanking Active TSS	Fetal Lung	lung
28	chr11:8102200-8102400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr11:8102200-8102400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:8102200-8102400	Enhancers	Spleen	Spleen
31	chr11:8102200-8102400	Flanking Active TSS	A549	lung
32	chr11:8102200-8102400	Bivalent/Poised TSS	HUVEC	blood vessel
33	chr11:8102200-8102400	Bivalent/Poised TSS	NHLF	lung
34	chr11:8102200-8102600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:8102200-8102600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:8102200-8102600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:8102200-8102600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:8102200-8102600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:8102200-8102600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr11:8102200-8102600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
43	chr11:8102200-8102600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:8102200-8102600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
46	chr11:8102200-8102600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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