Variant report

Variant	rs562822424
Chromosome Location	chr5:74350129-74350130
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	TAF1	chr5:74348875-74350581	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr5:74349452-74350465	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr5:74349979-74350422	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr5:74349194-74350559	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:74349233-74350506	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr5:74349546-74350495	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF7L2	chr5:74349163-74350312	PANC-1	pancreas:	n/a	n/a
8	TAF1	chr5:74349916-74350315	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr5:74349300-74350258	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:74349465-74350678	SK-N-MC	brain:	n/a	n/a
11	MAX	chr5:74348107-74350140	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
12	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr5:74349635-74350310	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:74348902-74350505	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:74349985-74350581	H1-hESC	embryonic stem cell:	n/a	chr5:74350503-74350512
16	SIN3A	chr5:74348209-74350460	H1-hESC	embryonic stem cell:	n/a	chr5:74350029-74350040 chr5:74348893-74348906 chr5:74349002-74349015
17	TAF7	chr5:74347951-74350547	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:74349236-74350677	SK-N-MC	brain:	n/a	n/a
19	NRF1	chr5:74349557-74350224	SK-N-SH	brain:	n/a	chr5:74349628-74349637
20	POLR2A	chr5:74349623-74350415	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr5:74350013-74350679	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr5:74348686-74350492	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr5:74349073-74350549	IMR90	lung:	n/a	n/a
24	POLR2A	chr5:74340910-74352626	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr5:74349637-74350554	H1-hESC	embryonic stem cell:	n/a	chr5:74350503-74350512
26	POLR2A	chr5:74348072-74351062	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr5:74349551-74350155	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74349473..74351177-chr5:74531614..74533984,2	MCF-7	breast:
2	chr5:74349068..74351249-chr5:74356524..74358401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250889	TF binding region
ENSG00000145700	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3439111	chr5:74348021-74350569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv598669	chr5:74348841-74351228	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
6	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
7	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
8	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:74347400-74350400	Active TSS	Gastric	stomach
11	chr5:74347600-74350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:74347600-74350200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:74347600-74350200	Active TSS	Fetal Intestine Large	intestine
14	chr5:74347600-74350400	Active TSS	Aorta	Aorta
15	chr5:74347600-74350400	Active TSS	Colon Smooth Muscle	Colon
16	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:74347800-74350200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:74347800-74350200	Active TSS	Brain Angular Gyrus	brain
20	chr5:74347800-74350200	Active TSS	Stomach Smooth Muscle	stomach
21	chr5:74347800-74350200	Active TSS	A549	lung
22	chr5:74348000-74350200	Active TSS	Right Atrium	heart
23	chr5:74348000-74350200	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr5:74348000-74350200	Active TSS	HSMMtube	muscle
25	chr5:74348000-74350400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:74348000-74350400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:74348000-74350400	Flanking Bivalent TSS/Enh	Dnd41	blood
28	chr5:74348000-74350600	Active TSS	Psoas Muscle	Psoas
29	chr5:74348000-74351000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr5:74348200-74350200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:74348200-74350200	Active TSS	Brain Substantia Nigra	brain
32	chr5:74348200-74350200	Active TSS	Esophagus	oesophagus
33	chr5:74348200-74350200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr5:74348200-74350200	Active TSS	HSMM	muscle
35	chr5:74348200-74350400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:74348200-74350400	Active TSS	Ovary	ovary
37	chr5:74348400-74350200	Active TSS	Fetal Kidney	kidney
38	chr5:74348400-74350200	Active TSS	Fetal Lung	lung
39	chr5:74348600-74350200	Active TSS	Fetal Stomach	stomach
40	chr5:74348600-74350400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:74348800-74350200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr5:74348800-74350600	Active TSS	Colonic Mucosa	Colon
43	chr5:74349200-74350200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:74349200-74350400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:74349200-74350800	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:74349600-74350200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:74349600-74350200	Active TSS	Fetal Heart	heart
48	chr5:74349600-74350200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr5:74349600-74350200	Flanking Active TSS	HUVEC	blood vessel
50	chr5:74349600-74350400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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