Variant report

Variant	rs535737228
Chromosome Location	chr5:92919962-92919963
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	POLR2A	chr5:92919810-92921306	HepG2	liver:	n/a	n/a
2	NANOG	chr5:92919833-92920084	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:92919868-92920318	Gliobla	brain:	n/a	n/a
4	SIN3AK20	chr5:92919461-92920475	PANC-1	pancreas:	n/a	n/a
5	GABPA	chr5:92919848-92920158	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:92919425-92922226	Hela-S3	cervix:	n/a	n/a
7	CEBPD	chr5:92919928-92920415	HepG2	liver:	n/a	n/a
8	MXI1	chr5:92917513-92922404	SK-N-SH	brain:	n/a	chr5:92918848-92918863
9	SUZ12	chr5:92919590-92920259	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:92919868-92920358	HCT-116	colon:	n/a	n/a
11	EGR1	chr5:92919941-92920110	K562	blood:	n/a	chr5:92920035-92920049 chr5:92920017-92920031
12	POLR2A	chr5:92918370-92920285	HepG2	liver:	n/a	n/a
13	TCF12	chr5:92919795-92919986	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr5:92919731-92920302	GM12892	blood:	n/a	chr5:92919869-92919878 chr5:92920247-92920258 chr5:92920077-92920091
15	POLR2A	chr5:92919895-92920429	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:92919953-92920228	H1-neurons	neurons:	n/a	n/a
17	HEY1	chr5:92919557-92920260	HepG2	liver:	n/a	chr5:92919632-92919647
18	CHD1	chr5:92919424-92920196	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr5:92919429-92921750	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:92919701-92921892	HEK293	kidney:	n/a	n/a
21	YY1	chr5:92919618-92920005	H1-hESC	embryonic stem cell:	n/a	chr5:92919869-92919878
22	POLR2A	chr5:92919956-92920278	A549	lung:	n/a	n/a
23	YY1	chr5:92919949-92920338	SK-N-SH_RA	brain:	n/a	chr5:92920326-92920337 chr5:92920247-92920258 chr5:92920077-92920091
24	MAX	chr5:92919472-92920408	Hela-S3	cervix:	n/a	n/a
25	YY1	chr5:92919851-92920114	GM12891	blood:	n/a	chr5:92919869-92919878 chr5:92920077-92920091
26	POLR2A	chr5:92919528-92920315	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr5:92919538-92921594	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:92919628-92920348	A549	lung:	n/a	n/a
29	MAX	chr5:92919552-92920419	HepG2	liver:	n/a	n/a
30	POLR2A	chr5:92919913-92920393	H1-neurons	neurons:	n/a	n/a
31	UBTF	chr5:92919728-92920133	K562	blood:	n/a	n/a
32	EGR1	chr5:92919941-92920094	GM12878	blood:	n/a	chr5:92920035-92920049 chr5:92920017-92920031
33	POLR2A	chr5:92919908-92920357	HCT-116	colon:	n/a	n/a
34	POLR2A	chr5:92919917-92920317	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr5:92919519-92920583	HUVEC	blood vessel:	n/a	n/a
36	YY1	chr5:92919560-92920329	HepG2	liver:	n/a	chr5:92919869-92919878 chr5:92920247-92920258 chr5:92920077-92920091
37	MAZ	chr5:92918142-92920671	IMR90	lung:	n/a	chr5:92918679-92918689 chr5:92918682-92918692 chr5:92918653-92918663 chr5:92918596-92918606
38	TAF1	chr5:92919902-92920224	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr5:92919556-92920377	HUVEC	blood vessel:	n/a	n/a
40	TAF1	chr5:92919582-92920327	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:92919587-92920357	PANC-1	pancreas:	n/a	n/a
42	EGR1	chr5:92919553-92920272	H1-hESC	embryonic stem cell:	n/a	chr5:92920035-92920049 chr5:92920017-92920031
43	POLR2A	chr5:92919961-92920280	A549	lung:	n/a	n/a
44	POLR2A	chr5:92918245-92920378	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr5:92918280-92920333	IMR90	lung:	n/a	n/a
46	POLR2A	chr5:92917672-92920232	IMR90	lung:	n/a	n/a
47	POLR2A	chr5:92918332-92922151	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr5:92919577-92920356	HUVEC	blood vessel:	n/a	n/a
49	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
50	SMARCB1	chr5:92919547-92920289	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:92919342..92920132-chr9:33025119..33025739,2	HCT-116	colon:
2	chr5:92914959..92917781-chr5:92918156..92922060,3	MCF-7	breast:
3	chr5:92918392..92920422-chr5:92954459..92956574,2	MCF-7	breast:

Variant related genes	Relation type
NR2F1	TF binding region
NR2F1-AS1	TF binding region
ENSG00000251725	Chromatin interaction
ENSG00000237187	Chromatin interaction
ENSG00000137074	Chromatin interaction
ENSG00000086061	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv3423958	chr5:92919096-92921969	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
9	esv3468495	chr5:92919221-92922169	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
10	esv3468497	chr5:92919221-92922169	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
11	esv13340	chr5:92919794-92920972	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
12	nsv598943	chr5:92919821-92920426	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
13	nsv598944	chr5:92919821-92920660	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
14	nsv598945	chr5:92919821-92920731	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
15	nsv598946	chr5:92919821-92920782	Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
16	esv1799302	chr5:92919821-92920895	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
17	esv1802883	chr5:92919821-92920895	Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
18	esv1836889	chr5:92919821-92920895	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
19	esv1847887	chr5:92919821-92920895	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
20	nsv598947	chr5:92919821-92920895	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
21	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
22	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
23	nsv598948	chr5:92919936-92920731	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92913800-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
3	chr5:92914200-92921600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
5	chr5:92914400-92922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:92914400-92922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:92914600-92924600	Active TSS	HSMM	muscle
8	chr5:92914600-92924800	Active TSS	Right Atrium	heart
9	chr5:92914800-92920800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:92914800-92921800	Active TSS	Psoas Muscle	Psoas
11	chr5:92914800-92921800	Active TSS	Osteobl	bone
12	chr5:92914800-92923200	Active TSS	Ovary	ovary
13	chr5:92914800-92926000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:92915000-92921600	Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:92915000-92922200	Active TSS	HSMMtube	muscle
16	chr5:92915200-92921000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:92915200-92921000	Active TSS	NHLF	lung
18	chr5:92915200-92921600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:92915200-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:92915200-92923600	Active TSS	NH-A	brain
21	chr5:92916200-92921600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:92916200-92927600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:92916400-92923200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr5:92916400-92923400	Active TSS	Stomach Smooth Muscle	stomach
25	chr5:92916400-92925200	Active TSS	Brain Substantia Nigra	brain
26	chr5:92916800-92921600	Active TSS	Brain Cingulate Gyrus	brain
27	chr5:92917000-92920800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:92917000-92921000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:92917000-92921400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:92917200-92920000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr5:92917200-92921000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr5:92918000-92921600	Bivalent/Poised TSS	NHEK	skin
33	chr5:92918000-92925000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:92918400-92921800	Active TSS	A549	lung
35	chr5:92918400-92922600	Active TSS	Hela-S3	cervix
36	chr5:92918600-92920200	Active TSS	Right Ventricle	heart
37	chr5:92918600-92921000	Active TSS	Aorta	Aorta
38	chr5:92918600-92921400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:92918600-92921600	Active TSS	HUVEC	blood vessel
40	chr5:92919000-92921000	Active TSS	Brain Hippocampus Middle	brain
41	chr5:92919000-92921400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:92919000-92921600	Active TSS	HMEC	breast
43	chr5:92919000-92922000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr5:92919000-92923400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:92919200-92920400	Active TSS	Placenta	Placenta
46	chr5:92919200-92921000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr5:92919200-92921400	Active TSS	Rectal Smooth Muscle	rectum
48	chr5:92919400-92921000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:92919400-92921000	Active TSS	Fetal Lung	lung
50	chr5:92919400-92921200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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