Variant report

Variant	rs577538507
Chromosome Location	chr9:72286537-72286538
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	chr9:72286150-72288240	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr9:72286001-72288515	SK-N-SH	brain:	n/a	chr9:72287629-72287642 chr9:72288204-72288214 chr9:72287510-72287523 chr9:72287953-72287962 chr9:72288010-72288019
3	SMC3	chr9:72286221-72288597	SK-N-SH	brain:	n/a	chr9:72286908-72286918 chr9:72287103-72287113
4	CTCF	chr9:72286520-72286670	AG04449	skin:	n/a	n/a
5	MAZ	chr9:72286272-72288380	IMR90	lung:	n/a	chr9:72287424-72287434 chr9:72286293-72286302
6	POLR2A	chr9:72286082-72288205	H1-neurons	neurons:	n/a	n/a
7	RAD21	chr9:72285926-72288545	SK-N-SH	brain:	n/a	chr9:72287629-72287643 chr9:72286908-72286918 chr9:72287509-72287523 chr9:72287335-72287348
8	REST	chr9:72286012-72288556	H1-neurons	neurons:	n/a	chr9:72287119-72287126 chr9:72288032-72288045 chr9:72287792-72287806

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:
2	chr9:72265675..72268152-chr9:72283798..72286751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261447	TF binding region
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3389299	chr9:72286157-72289005	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72285200-72286600	Flanking Active TSS	Fetal Brain Female	brain
2	chr9:72285400-72286600	Flanking Active TSS	Fetal Brain Male	brain
3	chr9:72285400-72286800	Flanking Active TSS	Liver	Liver
4	chr9:72285400-72288400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:72285600-72286600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr9:72285600-72286600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:72285600-72286600	Bivalent Enhancer	Spleen	Spleen
8	chr9:72286000-72286600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:72286000-72286600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:72286000-72286600	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr9:72286000-72286600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr9:72286000-72286600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr9:72286000-72286600	Flanking Active TSS	Fetal Kidney	kidney
14	chr9:72286000-72286600	Flanking Active TSS	Fetal Lung	lung
15	chr9:72286000-72286600	Flanking Active TSS	NHDF-Ad	bronchial
16	chr9:72286000-72286800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:72286000-72286800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr9:72286000-72286800	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr9:72286000-72287000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr9:72286000-72287600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr9:72286000-72288200	Active TSS	Brain Substantia Nigra	brain
22	chr9:72286200-72286600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
23	chr9:72286200-72286600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:72286200-72286600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:72286200-72286600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:72286200-72286600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:72286200-72286600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:72286200-72286600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr9:72286200-72286600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:72286200-72286600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:72286200-72286600	Flanking Active TSS	Fetal Heart	heart
32	chr9:72286200-72286600	Flanking Active TSS	Ovary	ovary
33	chr9:72286200-72286600	Enhancers	Pancreas	Pancrea
34	chr9:72286200-72286800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:72286200-72286800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr9:72286200-72286800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr9:72286200-72286800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr9:72286200-72286800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr9:72286200-72286800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr9:72286200-72286800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr9:72286200-72286800	Flanking Active TSS	NH-A	brain
42	chr9:72286200-72286800	Flanking Active TSS	NHLF	lung
43	chr9:72286200-72287000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:72286200-72287000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr9:72286200-72287000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr9:72286200-72287000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr9:72286200-72287200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr9:72286200-72287200	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr9:72286200-72287600	Active TSS	Osteobl	bone
50	chr9:72286200-72288000	Active TSS	Colonic Mucosa	Colon

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