Variant report

Variant	rs372740005
Chromosome Location	chr9:72286681-72286682
allele	A/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	CTBP2	chr9:72286573-72287153	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:72286150-72288240	H1-neurons	neurons:	n/a	n/a
3	CTCF	chr9:72286560-72286710	AoAF	blood vessel:	n/a	n/a
4	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
5	SIN3AK20	chr9:72286680-72286970	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMC3	chr9:72286221-72288597	SK-N-SH	brain:	n/a	chr9:72286908-72286918 chr9:72287103-72287113
7	CTCF	chr9:72286540-72286690	NHDF-neo	bronchial:	n/a	n/a
8	REST	chr9:72286572-72287295	H1-neurons	neurons:	n/a	chr9:72287119-72287126
9	CTCF	chr9:72286560-72286710	BJ	skin:	n/a	n/a
10	MAZ	chr9:72286272-72288380	IMR90	lung:	n/a	chr9:72287424-72287434 chr9:72286293-72286302
11	POLR2A	chr9:72286082-72288205	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr9:72286620-72286770	BJ	skin:	n/a	n/a
13	SIN3A	chr9:72286562-72287271	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr9:72285926-72288545	SK-N-SH	brain:	n/a	chr9:72287629-72287643 chr9:72286908-72286918 chr9:72287509-72287523 chr9:72287335-72287348
15	CTCF	chr9:72286580-72286730	SK-N-SH_RA	brain:	n/a	n/a
16	TAF1	chr9:72286580-72288270	H1-neurons	neurons:	n/a	n/a
17	CTCF	chr9:72286540-72286690	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr9:72286620-72286770	AG04449	skin:	n/a	n/a
19	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72285400-72286800	Flanking Active TSS	Liver	Liver
2	chr9:72285400-72288400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:72286000-72286800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:72286000-72286800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr9:72286000-72286800	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr9:72286000-72287000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr9:72286000-72287600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr9:72286000-72288200	Active TSS	Brain Substantia Nigra	brain
9	chr9:72286200-72286800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:72286200-72286800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr9:72286200-72286800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr9:72286200-72286800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr9:72286200-72286800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr9:72286200-72286800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr9:72286200-72286800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
16	chr9:72286200-72286800	Flanking Active TSS	NH-A	brain
17	chr9:72286200-72286800	Flanking Active TSS	NHLF	lung
18	chr9:72286200-72287000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr9:72286200-72287000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr9:72286200-72287000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr9:72286200-72287000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
22	chr9:72286200-72287200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr9:72286200-72287200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr9:72286200-72287600	Active TSS	Osteobl	bone
25	chr9:72286200-72288000	Active TSS	Colonic Mucosa	Colon
26	chr9:72286200-72288200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr9:72286200-72288200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr9:72286200-72288600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:72286400-72286800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr9:72286400-72286800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:72286400-72286800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr9:72286400-72286800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:72286400-72286800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:72286400-72286800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
35	chr9:72286400-72287000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
36	chr9:72286400-72287000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr9:72286400-72287000	Flanking Active TSS	Esophagus	oesophagus
38	chr9:72286400-72287200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr9:72286400-72287200	Flanking Active TSS	Placenta	Placenta
40	chr9:72286400-72287600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr9:72286400-72287600	Active TSS	Primary T cells from cord blood	blood
42	chr9:72286400-72287800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr9:72286400-72288000	Active TSS	Rectal Smooth Muscle	rectum
44	chr9:72286400-72288000	Active TSS	HSMM	muscle
45	chr9:72286400-72288200	Active TSS	Brain Cingulate Gyrus	brain
46	chr9:72286400-72288200	Active TSS	Brain Hippocampus Middle	brain
47	chr9:72286400-72288400	Active TSS	Aorta	Aorta
48	chr9:72286400-72288400	Active TSS	HSMMtube	muscle
49	chr9:72286400-72288600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr9:72286600-72286800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell

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