Variant report

Variant	rs536251886
Chromosome Location	chr5:43557837-43557838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr5:43556200-43557837	GM12878	blood:	n/a	n/a
2	MYBL2	chr5:43556813-43557879	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:43555808-43557990	GM12878	blood:	n/a	n/a
4	NFYB	chr5:43557713-43557925	K562	blood:	n/a	n/a
5	POLR2A	chr5:43555881-43557925	GM12892	blood:	n/a	n/a
6	MAX	chr5:43556078-43558002	A549	lung:	n/a	n/a
7	POLR2A	chr5:43556407-43557906	HCT-116	colon:	n/a	n/a
8	NFYB	chr5:43557747-43557941	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:43556303-43557875	IMR90	lung:	n/a	n/a
10	HMGN3	chr5:43556349-43557934	K562	blood:	n/a	n/a
11	ZNF263	chr5:43556138-43557943	HEK293-T-REx	kidney:	n/a	chr5:43557064-43557073
12	POLR2A	chr5:43556072-43558000	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr5:43556420-43557890	HepG2	liver:	n/a	n/a
14	POLR2A	chr5:43556130-43557999	GM12892	blood:	n/a	n/a
15	HEY1	chr5:43556293-43557877	HepG2	liver:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
16	HEY1	chr5:43555845-43557980	K562	blood:	n/a	chr5:43557250-43557265 chr5:43557215-43557230 chr5:43557204-43557219 chr5:43556977-43556992 chr5:43557212-43557227 chr5:43557297-43557312
17	HCFC1	chr5:43554074-43558030	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:43556780-43557913	K562	blood:	n/a	n/a
19	ARID3A	chr5:43557047-43557889	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:43556356-43557879	GM12891	blood:	n/a	n/a
21	MTA3	chr5:43556818-43558010	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:43555831-43558028	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr5:43556099-43557893	K562	blood:	n/a	n/a
24	RCOR1	chr5:43556992-43557867	K562	blood:	n/a	n/a
25	POLR2A	chr5:43556189-43557868	GM12891	blood:	n/a	n/a
26	POLR2A	chr5:43556065-43557887	PANC-1	pancreas:	n/a	n/a
27	CREB1	chr5:43556766-43557901	HepG2	liver:	n/a	n/a
28	MYC	chr5:43556263-43557861	NB4	blood:	n/a	n/a
29	POLR2A	chr5:43557560-43557939	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:43555970-43557950	GM12891	blood:	n/a	n/a
31	POLR2A	chr5:43556124-43557930	GM12891	blood:	n/a	n/a
32	MAX	chr5:43556280-43558044	HCT-116	colon:	n/a	n/a
33	NFYB	chr5:43557715-43558011	GM12878	blood:	n/a	n/a
34	CEBPB	chr5:43557686-43557903	K562	blood:	n/a	n/a
35	MAX	chr5:43556153-43557895	K562	blood:	n/a	n/a
36	POLR2A	chr5:43555412-43557931	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:43555957-43557941	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:43556785-43557913	H1-neurons	neurons:	n/a	n/a
39	MYC	chr5:43557647-43557855	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr5:43556786-43557965	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:43555985-43557841	GM12878	blood:	n/a	n/a
42	ZEB1	chr5:43556944-43558021	HepG2	liver:	n/a	chr5:43557562-43557573 chr5:43557562-43557573
43	POLR2A	chr5:43556705-43557856	PBDE	blood:	n/a	n/a
44	POLR2A	chr5:43555974-43557858	K562	blood:	n/a	n/a
45	POLR2A	chr5:43555893-43557933	GM12878	blood:	n/a	n/a
46	TBL1XR1	chr5:43556898-43557857	GM12878	blood:	n/a	n/a
47	PML	chr5:43556059-43557878	GM12878	blood:	n/a	n/a
48	MAX	chr5:43556098-43557847	NB4	blood:	n/a	n/a
49	REST	chr5:43555735-43558010	H1-neurons	neurons:	n/a	n/a
50	MAX	chr5:43556819-43557973	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
2	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
3	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
4	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
5	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
6	chr5:43557377..43557920-chr6:26123924..26124717,2	Hela-S3	cervix:
7	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
8	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
9	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
10	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
11	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:
12	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
13	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
14	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
15	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:
16	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:

No data

Variant related genes	Relation type
PAIP1	TF binding region
ENSG00000112992	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000249286	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000235527	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv1792602	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases
9	esv1802364	chr5:43556410-43561759	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43554800-43558400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:43555200-43558000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:43555200-43558000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:43555200-43558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:43555400-43558000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr5:43555400-43558000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr5:43555400-43558000	Active TSS	Fetal Intestine Large	intestine
8	chr5:43555600-43558000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:43555600-43558000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:43555600-43558000	Active TSS	Fetal Brain Female	brain
11	chr5:43555800-43558000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:43555800-43558000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:43555800-43558000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:43555800-43558000	Active TSS	Fetal Kidney	kidney
15	chr5:43556000-43558000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr5:43556000-43558000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:43556000-43558000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:43556000-43558000	Active TSS	Colonic Mucosa	Colon
19	chr5:43556000-43558000	Active TSS	Esophagus	oesophagus
20	chr5:43556000-43558000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr5:43556200-43558000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:43556200-43558000	Active TSS	Brain Angular Gyrus	brain
23	chr5:43556200-43558000	Active TSS	Brain Hippocampus Middle	brain
24	chr5:43556200-43558000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:43556200-43558000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:43556200-43558000	Active TSS	Rectal Smooth Muscle	rectum
27	chr5:43556400-43558000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:43556400-43558000	Active TSS	Brain Anterior Caudate	brain
29	chr5:43556400-43558000	Active TSS	Stomach Smooth Muscle	stomach
30	chr5:43556600-43558000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:43557200-43558000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr5:43557400-43558000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr5:43557400-43558000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr5:43557400-43558000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:43557400-43558000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:43557400-43558000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr5:43557400-43558000	Flanking Active TSS	Dnd41	blood
38	chr5:43557400-43558000	Flanking Active TSS	Hela-S3	cervix
39	chr5:43557400-43558000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:43557400-43558000	Flanking Active TSS	Osteobl	bone
41	chr5:43557600-43558000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr5:43557600-43558000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:43557600-43558000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr5:43557600-43558000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:43557600-43558000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr5:43557600-43558000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:43557600-43558000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr5:43557600-43558000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr5:43557600-43558000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr5:43557600-43558000	Flanking Active TSS	Fetal Intestine Small	intestine

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