Variant report

Variant	rs546927750
Chromosome Location	chr5:179233980-179233981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:323)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:179233801-179234039	MCF-7	breast:	n/a	n/a
2	JUND	chr5:179233770-179234110	K562	blood:	n/a	chr5:179233991-179234000
3	E2F6	chr5:179233723-179234109	K562	blood:	n/a	n/a
4	MAX	chr5:179233714-179234688	ECC-1	luminal epithelium:	n/a	n/a
5	YY1	chr5:179233705-179234064	K562	blood:	n/a	chr5:179233986-179234000
6	TCF12	chr5:179233711-179234774	A549	lung:	n/a	n/a
7	POLR2A	chr5:179233032-179234049	GM12891	blood:	n/a	n/a
8	ETS1	chr5:179233744-179234112	K562	blood:	n/a	n/a
9	MAZ	chr5:179233779-179234534	HepG2	liver:	n/a	n/a
10	RAD21	chr5:179233716-179234144	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr5:179232922-179234644	MCF10A-Er-Src	breast:	n/a	n/a
12	TAF7	chr5:179233664-179234045	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:179233963-179233983	GM13976	blood:	n/a	n/a
14	MEF2A	chr5:179233758-179234131	GM12878	blood:	n/a	n/a
15	MAX	chr5:179233748-179234675	SK-N-SH	brain:	n/a	n/a
16	MAZ	chr5:179232317-179234572	Hela-S3	cervix:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
17	POLR2A	chr5:179233376-179234601	Gliobla	brain:	n/a	n/a
18	TAF1	chr5:179233735-179234549	H1-neurons	neurons:	n/a	n/a
19	MAX	chr5:179233758-179234141	K562	blood:	n/a	n/a
20	SIN3AK20	chr5:179233706-179234685	PANC-1	pancreas:	n/a	n/a
21	ZNF143	chr5:179233754-179234581	GM12878	blood:	n/a	n/a
22	RCOR1	chr5:179233717-179234747	IMR90	lung:	n/a	n/a
23	POLR2A	chr5:179233718-179234077	U87	brain:	n/a	n/a
24	EGR1	chr5:179233738-179234153	H1-hESC	embryonic stem cell:	n/a	chr5:179233986-179233996
25	TBL1XR1	chr5:179233915-179234133	K562	blood:	n/a	n/a
26	SMC3	chr5:179233894-179234020	K562	blood:	n/a	n/a
27	MXI1	chr5:179233831-179234012	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr5:179233769-179234108	PFSK-1	brain:	n/a	n/a
29	CREB1	chr5:179233854-179234095	A549	lung:	n/a	n/a
30	MAX	chr5:179233786-179234121	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:179232771-179234571	GM18951	blood:	n/a	n/a
32	RCOR1	chr5:179233832-179234064	HepG2	liver:	n/a	n/a
33	ZBTB7A	chr5:179233707-179234586	K562	blood:	n/a	n/a
34	HDAC2	chr5:179233719-179234530	MCF-7	breast:	n/a	n/a
35	EP300	chr5:179233821-179234010	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:179233053-179234095	GM10847	blood:	n/a	n/a
37	POLR2A	chr5:179233681-179234167	K562	blood:	n/a	n/a
38	EBF1	chr5:179233911-179234020	GM12878	blood:	n/a	n/a
39	MAX	chr5:179233719-179234718	A549	lung:	n/a	n/a
40	POLR2A	chr5:179233702-179234706	SK-N-MC	brain:	n/a	n/a
41	YY1	chr5:179233799-179234108	H1-hESC	embryonic stem cell:	n/a	chr5:179233986-179234000
42	SP1	chr5:179233717-179234075	H1-hESC	embryonic stem cell:	n/a	chr5:179233986-179233998 chr5:179233988-179233997 chr5:179233986-179233998 chr5:179234009-179234016
43	BCLAF1	chr5:179233740-179234111	K562	blood:	n/a	chr5:179233991-179234004 chr5:179234014-179234027 chr5:179234081-179234094
44	CHD2	chr5:179233914-179234206	K562	blood:	n/a	n/a
45	POLR2A	chr5:179232512-179234564	MCF-7	breast:	n/a	n/a
46	TCF12	chr5:179233755-179234059	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:179233088-179234566	MCF10A-Er-Src	breast:	n/a	n/a
48	MXI1	chr5:179232522-179234065	GM12878	blood:	n/a	n/a
49	EGR1	chr5:179233785-179234106	GM12878	blood:	n/a	chr5:179233986-179233996
50	CTCF	chr5:179233893-179234039	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
2	chr5:179125105..179126720-chr5:179232704..179234457,2	MCF-7	breast:
3	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
4	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
5	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
6	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
7	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
8	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
9	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
10	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
11	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
12	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
13	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
14	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
15	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:

No data

Variant related genes	Relation type
MGAT4B	TF binding region
SQSTM1	TF binding region
ENSG00000197226	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS 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 miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
11	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv870188	chr5:179218824-179235424	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
13	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
14	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
15	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
16	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
17	nsv600668	chr5:179227865-179242581	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv3403342	chr5:179231746-179236044	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv3427312	chr5:179232371-179234919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv3325781	chr5:179232971-179235519	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv988291	chr5:179233076-179240737	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179232000-179234800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:179232000-179235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:179232200-179234600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:179232200-179234600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:179232200-179234600	Active TSS	NHEK	skin
6	chr5:179232200-179234800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:179232200-179234800	Active TSS	Colon Smooth Muscle	Colon
8	chr5:179232400-179234400	Active TSS	Aorta	Aorta
9	chr5:179232400-179234600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:179232400-179234600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:179232400-179234600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:179232400-179234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:179232400-179234600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:179232400-179234600	Active TSS	Brain Substantia Nigra	brain
15	chr5:179232400-179234600	Active TSS	Fetal Kidney	kidney
16	chr5:179232400-179234600	Active TSS	HSMMtube	muscle
17	chr5:179232400-179234600	Active TSS	NHDF-Ad	bronchial
18	chr5:179232400-179234600	Active TSS	NHLF	lung
19	chr5:179232400-179234800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:179232400-179234800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:179232400-179235000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:179232400-179235000	Active TSS	A549	lung
23	chr5:179232400-179235200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:179232600-179234400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:179232600-179234400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:179232600-179234600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:179232600-179234600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:179232600-179234600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:179232600-179234600	Active TSS	Liver	Liver
30	chr5:179232600-179234600	Active TSS	Brain Anterior Caudate	brain
31	chr5:179232600-179234600	Active TSS	Brain Cingulate Gyrus	brain
32	chr5:179232600-179234600	Active TSS	Brain Hippocampus Middle	brain
33	chr5:179232600-179234600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr5:179232600-179234600	Active TSS	Esophagus	oesophagus
35	chr5:179232600-179234600	Active TSS	Fetal Lung	lung
36	chr5:179232600-179234600	Active TSS	Ovary	ovary
37	chr5:179232600-179234600	Active TSS	Right Ventricle	heart
38	chr5:179232600-179234600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr5:179232600-179234600	Active TSS	Small Intestine	intestine
40	chr5:179232600-179234600	Active TSS	GM12878-XiMat	blood
41	chr5:179232600-179234600	Active TSS	NH-A	brain
42	chr5:179232600-179234800	Active TSS	Brain Angular Gyrus	brain
43	chr5:179232600-179234800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr5:179232600-179234800	Active TSS	Psoas Muscle	Psoas
45	chr5:179232600-179234800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr5:179232600-179234800	Active TSS	Hela-S3	cervix
47	chr5:179232600-179234800	Active TSS	Osteobl	bone
48	chr5:179232600-179235000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:179232600-179235000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr5:179232600-179235000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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