Variant report

Variant	rs573039452
Chromosome Location	chr9:101471608-101471609
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	REST	chr9:101471019-101472181	ECC-1	luminal epithelium:	n/a	chr9:101471384-101471394 chr9:101471411-101471424
2	POLR2A	chr9:101470565-101471917	H1-neurons	neurons:	n/a	n/a
3	E2F6	chr9:101471300-101471936	H1-hESC	embryonic stem cell:	n/a	chr9:101471705-101471715 chr9:101471712-101471721
4	RAD21	chr9:101471607-101472293	H1-hESC	embryonic stem cell:	n/a	chr9:101472046-101472060 chr9:101472042-101472061 chr9:101471608-101471622
5	UBTF	chr9:101471327-101471769	K562	blood:	n/a	n/a
6	MAX	chr9:101471158-101471888	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr9:101471132-101471777	H1-neurons	neurons:	n/a	n/a
8	REST	chr9:101471563-101471870	HL-60	blood:	n/a	n/a
9	POLR2A	chr9:101470975-101472120	H1-neurons	neurons:	n/a	n/a
10	SUZ12	chr9:101469080-101471855	NT2-D1	testis:	n/a	n/a
11	REST	chr9:101470992-101472124	H1-neurons	neurons:	n/a	chr9:101471384-101471394 chr9:101471411-101471424
12	GABPA	chr9:101471496-101471779	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr9:101471070-101473423	HL-60	blood:	n/a	chr9:101471384-101471394 chr9:101472860-101472869 chr9:101472855-101472864 chr9:101471411-101471424 chr9:101472849-101472869 chr9:101472373-101472391 chr9:101472849-101472869 chr9:101472931-101472944 chr9:101472856-101472869
14	ZNF263	chr9:101471138-101473084	HEK293-T-REx	kidney:	n/a	n/a
15	UBTF	chr9:101471287-101471874	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:101390132..101392094-chr9:101471584..101473721,2	MCF-7	breast:

Variant related genes	Relation type
GABBR2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv893616	chr9:101371017-101472921	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv825007	chr9:101467848-101476292	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3338088	chr9:101469131-101473529	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv819653	chr9:101469511-101472192	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3498543	chr9:101469881-101473129	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3498544	chr9:101469881-101473129	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3423249	chr9:101470556-101473104	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101469000-101471800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr9:101469200-101471800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr9:101469200-101471800	Enhancers	Liver	Liver
4	chr9:101469200-101472000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr9:101469200-101472000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr9:101469200-101472000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr9:101469200-101472000	Active TSS	Brain Angular Gyrus	brain
8	chr9:101469200-101472200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:101469400-101472000	Active TSS	Brain Anterior Caudate	brain
10	chr9:101469600-101472000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr9:101469600-101472000	Bivalent/Poised TSS	A549	lung
12	chr9:101470000-101472200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr9:101470400-101471800	Active TSS	Psoas Muscle	Psoas
14	chr9:101470600-101471800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:101470600-101471800	Active TSS	HUVEC	blood vessel
16	chr9:101470800-101471800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:101470800-101471800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr9:101470800-101471800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr9:101470800-101471800	Bivalent Enhancer	Esophagus	oesophagus
20	chr9:101470800-101471800	Active TSS	Fetal Brain Female	brain
21	chr9:101470800-101471800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr9:101470800-101471800	Bivalent/Poised TSS	NHLF	lung
23	chr9:101470800-101472000	Active TSS	Brain Cingulate Gyrus	brain
24	chr9:101470800-101472200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr9:101470800-101472400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:101471000-101471800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:101471000-101471800	Active TSS	Aorta	Aorta
28	chr9:101471000-101471800	Bivalent/Poised TSS	HSMM	muscle
29	chr9:101471000-101472000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:101471200-101471800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:101471200-101471800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:101471200-101471800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:101471200-101471800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr9:101471200-101471800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr9:101471200-101471800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:101471200-101471800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
37	chr9:101471200-101471800	Flanking Active TSS	Pancreas	Pancrea
38	chr9:101471200-101471800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr9:101471200-101472000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr9:101471200-101472000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:101471200-101472000	Bivalent/Poised TSS	HepG2	liver
42	chr9:101471200-101472200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:101471400-101471800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:101471400-101472000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr9:101471400-101472000	Bivalent Enhancer	Lung	lung
46	chr9:101471400-101472000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr9:101471400-101472000	Bivalent/Poised TSS	K562	blood
48	chr9:101471400-101472200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:101471400-101472200	Bivalent Enhancer	Spleen	Spleen
50	chr9:101471600-101471800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast

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