Variant report

Variant	rs574292283
Chromosome Location	chr11:8102426-8102427
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	POLR2A	chr11:8102422-8102996	A549	lung:	n/a	n/a
2	CTCF	chr11:8102420-8102570	GM12871	blood:	n/a	n/a
3	RCOR1	chr11:8102402-8102512	HepG2	liver:	n/a	n/a
4	MXI1	chr11:8101827-8108407	SK-N-SH	brain:	n/a	chr11:8104003-8104018 chr11:8103574-8103583
5	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
6	KAP1	chr11:8101930-8102486	HEK293	kidney:	n/a	n/a
7	POLR2A	chr11:8102325-8102940	PFSK-1	brain:	n/a	n/a
8	SIN3A	chr11:8102295-8102638	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr11:8101910-8103001	H1-neurons	neurons:	n/a	chr11:8102894-8102904 chr11:8102887-8102900
10	MAX	chr11:8102200-8102848	A549	lung:	n/a	n/a
11	MAX	chr11:8102410-8103616	HepG2	liver:	n/a	n/a
12	BACH1	chr11:8102356-8102660	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr11:8102241-8102569	H1-hESC	embryonic stem cell:	n/a	n/a
14	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
15	ZNF143	chr11:8102196-8102658	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:8102271-8104651	H1-neurons	neurons:	n/a	n/a
17	MAX	chr11:8102141-8103803	A549	lung:	n/a	n/a
18	CTCF	chr11:8102400-8102550	HMF	breast:	n/a	n/a
19	POLR2A	chr11:8102276-8102998	H1-neurons	neurons:	n/a	n/a
20	MAX	chr11:8102198-8102933	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr11:8101856-8102735	IMR90	lung:	n/a	n/a
22	MAX	chr11:8102397-8103031	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
TUB	TF binding region

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:111 , 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	chr11:8102000-8102600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:8102000-8102600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:8102000-8102600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:8102000-8102600	Flanking Active TSS	Fetal Brain Male	brain
6	chr11:8102000-8102600	Enhancers	Fetal Heart	heart
7	chr11:8102000-8102600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr11:8102000-8102600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:8102000-8103200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:8102000-8103200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:8102000-8103200	Active TSS	Brain Anterior Caudate	brain
12	chr11:8102000-8103200	Active TSS	Colon Smooth Muscle	Colon
13	chr11:8102000-8103200	Active TSS	Osteobl	bone
14	chr11:8102000-8103400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:8102000-8103400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:8102000-8103400	Active TSS	Brain Angular Gyrus	brain
17	chr11:8102000-8103400	Active TSS	Fetal Brain Female	brain
18	chr11:8102000-8103400	Active TSS	Fetal Kidney	kidney
19	chr11:8102000-8103600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr11:8102200-8102600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:8102200-8102600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:8102200-8102600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:8102200-8102600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:8102200-8102600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:8102200-8102600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr11:8102200-8102600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
29	chr11:8102200-8102600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:8102200-8102600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr11:8102200-8102600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:8102200-8102600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:8102200-8102600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
43	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
44	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	Placenta	Placenta
46	chr11:8102200-8102600	Flanking Active TSS	Pancreas	Pancrea
47	chr11:8102200-8102600	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr11:8102200-8102600	Flanking Active TSS	HMEC	breast
49	chr11:8102200-8102600	Flanking Active TSS	NH-A	brain
50	chr11:8102200-8102800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood

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