Variant report

Variant	rs531733154
Chromosome Location	chr5:92923552-92923553
allele	C/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	chr5:92922854-92923988	U87	brain:	n/a	n/a
2	POLR2A	chr5:92923438-92923611	HepG2	liver:	n/a	n/a
3	CTCF	chr5:92923420-92923570	HBMEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:92922860-92923655	U87	brain:	n/a	n/a
5	CTCF	chr5:92923540-92923690	HPAF	blood vessel:	n/a	n/a
6	SIN3A	chr5:92923500-92924114	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:92923400-92923657	HepG2	liver:	n/a	n/a
8	TCF12	chr5:92923327-92923612	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr5:92923245-92925427	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr5:92922829-92924122	IMR90	lung:	n/a	n/a
11	SUZ12	chr5:92922767-92925376	NT2-D1	testis:	n/a	n/a
12	CTBP2	chr5:92923176-92924632	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:92923521-92924189	MCF-7	breast:	n/a	n/a
14	CHD1	chr5:92912776-92927520	IMR90	lung:	n/a	chr5:92914877-92914887 chr5:92926304-92926314 chr5:92917311-92917321 chr5:92918655-92918665 chr5:92918684-92918694 chr5:92920697-92920707 chr5:92920384-92920394 chr5:92915468-92915478 chr5:92917327-92917337 chr5:92920376-92920386
15	POLR2A	chr5:92922933-92923833	HepG2	liver:	n/a	n/a
16	MXI1	chr5:92922722-92925132	IMR90	lung:	n/a	n/a
17	POLR2A	chr5:92923317-92924647	HepG2	liver:	n/a	n/a
18	POLR2A	chr5:92922834-92923820	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
NR2F1-AS1	TF binding region
NR2F1	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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1794960	chr5:92919821-92932305	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1837322	chr5:92919821-92933747	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3350173	chr5:92923496-92925444	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
2	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
3	chr5:92914600-92924600	Active TSS	HSMM	muscle
4	chr5:92914600-92924800	Active TSS	Right Atrium	heart
5	chr5:92914800-92926000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:92915200-92923600	Active TSS	NH-A	brain
7	chr5:92916200-92927600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:92916400-92925200	Active TSS	Brain Substantia Nigra	brain
9	chr5:92918000-92925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:92919800-92925400	Active TSS	Brain Germinal Matrix	brain
11	chr5:92920600-92924600	Active TSS	Fetal Kidney	kidney
12	chr5:92920800-92929400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:92921000-92925400	Bivalent/Poised TSS	Fetal Lung	lung
14	chr5:92921000-92927800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:92922000-92925000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:92922200-92923600	Weak transcription	HMEC	breast
17	chr5:92922200-92924600	Active TSS	Brain Cingulate Gyrus	brain
18	chr5:92922200-92931400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:92922200-92934200	Weak transcription	HSMMtube	muscle
20	chr5:92922600-92923800	Flanking Active TSS	Hela-S3	cervix
21	chr5:92922600-92929200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:92922800-92924000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr5:92922800-92924200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
24	chr5:92922800-92924400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:92922800-92925000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:92922800-92925000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:92922800-92927000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
28	chr5:92922800-92927800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:92922800-92929800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:92923000-92923800	Bivalent/Poised TSS	Placenta	Placenta
31	chr5:92923000-92924000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:92923200-92923600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:92923200-92923600	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr5:92923200-92923600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr5:92923200-92923600	Flanking Active TSS	Ovary	ovary
36	chr5:92923200-92923800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr5:92923200-92923800	Bivalent Enhancer	Fetal Thymus	thymus
38	chr5:92923200-92924000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:92923200-92924000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:92923200-92924000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr5:92923200-92924000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr5:92923200-92924000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr5:92923200-92924000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr5:92923200-92924000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr5:92923200-92924200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:92923200-92924200	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr5:92923200-92924600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:92923200-92924600	Bivalent Enhancer	Fetal Intestine Large	intestine
49	chr5:92923200-92924600	ZNF genes & repeats	Lung	lung
50	chr5:92923200-92924800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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