Variant report

Variant	rs150752758
Chromosome Location	chr5:179234626-179234627
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:179233714-179234688	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr5:179233711-179234774	A549	lung:	n/a	n/a
3	POLR2A	chr5:179232922-179234644	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr5:179234147-179234744	A549	lung:	n/a	n/a
5	MAX	chr5:179233748-179234675	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr5:179234480-179234630	GM12865	blood:	n/a	n/a
7	SIN3AK20	chr5:179233706-179234685	PANC-1	pancreas:	n/a	n/a
8	RCOR1	chr5:179233717-179234747	IMR90	lung:	n/a	n/a
9	MAX	chr5:179233719-179234718	A549	lung:	n/a	n/a
10	POLR2A	chr5:179233702-179234706	SK-N-MC	brain:	n/a	n/a
11	CTCF	chr5:179234500-179234650	GM12871	blood:	n/a	n/a
12	POLR2A	chr5:179234217-179234631	HCT-116	colon:	n/a	n/a
13	MAX	chr5:179234207-179234671	SK-N-SH	brain:	n/a	n/a
14	SP1	chr5:179233673-179234637	A549	lung:	n/a	chr5:179233986-179233998 chr5:179233988-179233997 chr5:179233986-179233998 chr5:179234009-179234016
15	POLR2A	chr5:179232343-179234662	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr5:179233546-179234683	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr5:179233683-179234640	K562	blood:	n/a	n/a
18	MAX	chr5:179233718-179234691	ECC-1	luminal epithelium:	n/a	n/a
19	HMGN3	chr5:179232471-179234681	K562	blood:	n/a	n/a
20	MAX	chr5:179233703-179234668	HepG2	liver:	n/a	n/a
21	POLR2A	chr5:179233697-179234738	GM12878	blood:	n/a	n/a
22	RCOR1	chr5:179234309-179234659	HepG2	liver:	n/a	n/a
23	E2F6	chr5:179234107-179234644	A549	lung:	n/a	chr5:179234412-179234423
24	POLR2A	chr5:179233689-179234715	U87	brain:	n/a	n/a
25	POLR2A	chr5:179233692-179234643	PANC-1	pancreas:	n/a	n/a
26	ZBTB7A	chr5:179232461-179234657	K562	blood:	n/a	chr5:179233377-179233384
27	FOXP2	chr5:179234227-179234661	PFSK-1	brain:	n/a	n/a
28	MAX	chr5:179233699-179234708	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:179231839-179234641	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:179233707-179234635	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:179233680-179234638	HL-60	blood:	n/a	n/a
32	YY1	chr5:179234196-179234706	GM12892	blood:	n/a	n/a
33	CEBPB	chr5:179234596-179234796	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:179232134-179234679	PFSK-1	brain:	n/a	n/a
35	HCFC1	chr5:179233673-179234666	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:179232508-179234778	ProgFib	skin:	n/a	n/a
37	POLR2A	chr5:179233249-179234757	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr5:179234218-179234688	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:179233336-179234660	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr5:179231675-179234766	SK-N-SH	brain:	n/a	n/a
41	PAX5	chr5:179234295-179234636	GM12892	blood:	n/a	n/a
42	POLR2A	chr5:179228779-179234761	K562	blood:	n/a	n/a
43	MAX	chr5:179231886-179234746	A549	lung:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
44	REST	chr5:179232847-179234771	H1-neurons	neurons:	n/a	chr5:179233245-179233254 chr5:179234285-179234298
45	MAZ	chr5:179232608-179234648	K562	blood:	n/a	chr5:179232753-179232763 chr5:179232882-179232892 chr5:179233343-179233353
46	POLR2A	chr5:179232930-179234629	H1-neurons	neurons:	n/a	n/a
47	CTCF	chr5:179234500-179234650	BJ	skin:	n/a	n/a
48	CTCF	chr5:179234500-179234650	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr5:179233753-179234690	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr5:179233695-179234709	U87	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179234594-179234644	BE2_C	brain:	n/a
2	chr5:179234594-179234644	Jurkat	blood:	n/a
3	chr5:179234594-179234644	HUVEC	blood vessel:	n/a
4	chr5:179234594-179234644	AG10803	skin:	n/a
5	chr5:179234594-179234644	GM06990	blood:	n/a
6	chr5:179234594-179234644	HCT-116	colon:	n/a
7	chr5:179234594-179234644	SAEC	small airway:	n/a
8	chr5:179234594-179234644	IMR90	lung:	fetal
9	chr5:179234594-179234644	ProgFib	skin:	n/a
10	chr5:179234594-179234644	Hepatocyte	liver:	n/a
11	chr5:179234594-179234644	NH-A	brain:	n/a
12	chr5:179234594-179234644	K562	blood:	n/a
13	chr5:179234594-179234644	HEK293	kidney:	embryo
14	chr5:179234594-179234644	RPTEC	kidney:	n/a
15	chr5:179234594-179234644	PANC-1	pancreas:	n/a
16	chr5:179234594-179234644	GM19239	blood:	n/a
17	chr5:179234594-179234644	AG09319	gingival:	n/a
18	chr5:179234594-179234644	HepG2	liver:	n/a
19	chr5:179234594-179234644	A549	lung:	n/a
20	chr5:179234594-179234644	HRE	kidney:	n/a
21	chr5:179234594-179234644	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:179234594-179234644	SK-N-MC	brain:	n/a
23	chr5:179234594-179234644	NT2-D1	testis:	n/a
24	chr5:179234594-179234644	PFSK-1	brain:	n/a
25	chr5:179234594-179234644	HL-60	blood:	n/a
26	chr5:179234594-179234644	HIPEpiC	eye:	n/a
27	chr5:179234594-179234644	ovcar-3	ovarian:	n/a
28	chr5:179234594-179234644	GM12878	blood:	n/a
29	chr5:179234594-179234644	MCF10A-Er-Src	breast:	n/a
30	chr5:179234594-179234644	AG04449	skin:	fetal
31	chr5:179234594-179234644	H1-hESC	embryonic stem cell:	embryo
32	chr5:179234594-179234644	HCF	heart:	n/a
33	chr5:179234594-179234644	U87	brain:	n/a
34	chr5:179234594-179234644	AG04450	lung:	fetal
35	chr5:179234594-179234644	BJ	skin:	n/a
36	chr5:179234594-179234644	NB4	blood:	n/a
37	chr5:179234594-179234644	ECC-1	luminal epithelium:	n/a
38	chr5:179234594-179234644	GM12891	blood:	n/a
39	chr5:179234594-179234644	Caco-2	colon:	n/a
40	chr5:179234594-179234644	LNCaP	prostate:	n/a
41	chr5:179234594-179234644	AG09309	skin:	n/a
42	chr5:179234594-179234644	HMEC	breast:	n/a
43	chr5:179234594-179234644	HEEpiC	esophagus:	n/a
44	chr5:179234594-179234644	SKMC	muscle:	n/a
45	chr5:179234594-179234644	HNPCEpiC	eye:	n/a
46	chr5:179234594-179234644	SK-N-SH_RA	brain:	n/a
47	chr5:179234594-179234644	NHBE	bronchial:	n/a
48	chr5:179234594-179234644	HCPEpiC	choroid plexus:	n/a
49	chr5:179234594-179234644	T-47D	breast:	n/a
50	chr5:179234594-179234644	GM12892	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
2	chr5:179159604..179161312-chr5:179232221..179234868,2	MCF-7	breast:
3	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
4	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
5	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
6	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
7	chr20:52209726..52211321-chr5:179232492..179235462,2	MCF-7	breast:
8	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
9	chr5:179234572..179235304-chr5:179245240..179246114,2	HCT-116	colon:
10	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
11	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
12	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630

No data

Variant related genes	Relation type
SQSTM1	TF binding region
MGAT4B	TF binding region
MGAT4B	CpG island
SQSTM1	CpG island
ENSG00000161011	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000171940	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:126 , 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	chr5:179232200-179234800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:179232200-179234800	Active TSS	Colon Smooth Muscle	Colon
5	chr5:179232400-179234800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:179232400-179234800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:179232400-179235000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr5:179232400-179235000	Active TSS	A549	lung
9	chr5:179232400-179235200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr5:179232600-179234800	Active TSS	Brain Angular Gyrus	brain
11	chr5:179232600-179234800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:179232600-179234800	Active TSS	Psoas Muscle	Psoas
13	chr5:179232600-179234800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:179232600-179234800	Active TSS	Hela-S3	cervix
15	chr5:179232600-179234800	Active TSS	Osteobl	bone
16	chr5:179232600-179235000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:179232600-179235000	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr5:179232600-179235000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:179232600-179235000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:179232600-179235000	Active TSS	Fetal Intestine Large	intestine
21	chr5:179232600-179235000	Active TSS	HepG2	liver
22	chr5:179232600-179235000	Active TSS	HSMM	muscle
23	chr5:179232600-179235400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:179232800-179234800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr5:179232800-179234800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:179232800-179234800	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr5:179232800-179234800	Weak transcription	Fetal Brain Male	brain
28	chr5:179232800-179234800	Active TSS	Placenta	Placenta
29	chr5:179232800-179234800	Active TSS	Left Ventricle	heart
30	chr5:179232800-179234800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:179232800-179235000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:179232800-179235000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:179232800-179235000	Active TSS	Fetal Brain Female	brain
34	chr5:179232800-179235000	Active TSS	Fetal Intestine Small	intestine
35	chr5:179232800-179235000	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:179232800-179235200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:179232800-179235200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr5:179232800-179235400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:179232800-179235600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:179233000-179235000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr5:179233200-179235000	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr5:179233200-179235000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:179233200-179235200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:179233200-179235200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr5:179233200-179235200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:179233400-179235400	Active TSS	Brain Germinal Matrix	brain
47	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:179234200-179235200	Flanking Active TSS	Colonic Mucosa	Colon
49	chr5:179234200-179235400	Flanking Active TSS	Dnd41	blood
50	chr5:179234400-179234800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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