Variant report

Variant	esv275483
Chromosome Location	chr4:48336371-48338344
allele	n/a
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	ATF1	chr4:48336827-48337337	K562	blood:	n/a	n/a
2	BHLHE40	chr4:48336786-48337379	K562	blood:	n/a	n/a
3	CCNT2	chr4:48336927-48337248	K562	blood:	n/a	n/a
4	CEBPB	chr4:48336265-48336567	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr4:48336996-48337317	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr4:48336333-48336513	IMR90	lung:	n/a	n/a
7	CEBPB	chr4:48336277-48336535	K562	blood:	n/a	n/a
8	CTCF	chr4:48337839-48337921	GM10248	blood:	n/a	n/a
9	CTCF	chr4:48337822-48337933	Kidney_OC	kidney:	n/a	n/a
10	CUX1	chr4:48336830-48337321	K562	blood:	n/a	n/a
11	ELK1	chr4:48336912-48336969	Hela-S3	cervix:	n/a	n/a
12	EP300	chr4:48336978-48337302	Hela-S3	cervix:	n/a	n/a
13	EP300	chr4:48336778-48337305	K562	blood:	n/a	n/a
14	GATA2	chr4:48336940-48337214	K562	blood:	n/a	n/a
15	GATA3	chr4:48336762-48337444	MCF-7	breast:	n/a	n/a
16	GATA3	chr4:48336789-48337421	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr4:48336742-48337469	SK-N-SH	brain:	n/a	n/a
18	IRF1	chr4:48336906-48337144	K562	blood:	n/a	n/a
19	JUND	chr4:48336934-48337256	K562	blood:	n/a	chr4:48337204-48337212
20	MAX	chr4:48336905-48337388	K562	blood:	n/a	n/a
21	MAX	chr4:48337027-48337235	Hela-S3	cervix:	n/a	n/a
22	MAX	chr4:48336976-48337350	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr4:48336213-48336379	K562	blood:	n/a	n/a
24	MAZ	chr4:48336834-48337267	K562	blood:	n/a	n/a
25	MAZ	chr4:48337042-48337222	Hela-S3	cervix:	n/a	n/a
26	MYC	chr4:48336877-48337251	K562	blood:	n/a	n/a
27	NR2F2	chr4:48336893-48337272	MCF-7	breast:	n/a	n/a
28	POLR2A	chr4:48337227-48337365	ProgFib	skin:	n/a	n/a
29	POLR2A	chr4:48337006-48337031	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr4:48336580-48336706	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:48337123-48337189	K562	blood:	n/a	n/a
32	POLR2A	chr4:48336516-48336527	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:48337119-48337166	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr4:48337210-48337218	K562	blood:	n/a	n/a
35	POLR2A	chr4:48337226-48337235	K562	blood:	n/a	n/a
36	POLR2A	chr4:48337198-48337199	ProgFib	skin:	n/a	n/a
37	RCOR1	chr4:48336943-48337187	Hela-S3	cervix:	n/a	n/a
38	RCOR1	chr4:48336842-48337311	K562	blood:	n/a	n/a
39	RCOR1	chr4:48336817-48337357	K562	blood:	n/a	n/a
40	RCOR1	chr4:48336323-48336511	K562	blood:	n/a	n/a
41	RFX5	chr4:48336994-48337224	Hela-S3	cervix:	n/a	n/a
42	SMC3	chr4:48336833-48336919	Hela-S3	cervix:	n/a	n/a
43	STAT1	chr4:48336715-48337370	Hela-S3	cervix:	n/a	chr4:48337080-48337091 chr4:48337081-48337090 chr4:48337010-48337022 chr4:48337082-48337091 chr4:48337079-48337093
44	STAT5A	chr4:48336817-48337275	K562	blood:	n/a	chr4:48337081-48337090 chr4:48337010-48337022 chr4:48337082-48337091 chr4:48337079-48337093
45	STAT5A	chr4:48336860-48337307	K562	blood:	n/a	chr4:48337081-48337090 chr4:48337010-48337022 chr4:48337082-48337091 chr4:48337079-48337093
46	TCF7L2	chr4:48336831-48337438	Hela-S3	cervix:	n/a	n/a
47	TEAD4	chr4:48336731-48337381	K562	blood:	n/a	n/a
48	ZNF263	chr4:48336673-48337643	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48330630..48332591-chr4:48335471..48337148,2	K562	blood:
2	chr4:48270541..48273741-chr4:48337743..48341343,4	K562	blood:
3	chr4:48329154..48338368-chr4:48340296..48348694,15	MCF-7	breast:

Variant related genes	Relation type
SLAIN2	TF binding region
ENSG00000135605	chromatin interactions
ENSG00000109171	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17609346	chr4:48336371-48336372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547824060	chr4:48336378-48336379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147954236	chr4:48336592-48336593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537795649	chr4:48336596-48336597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186571097	chr4:48336608-48336609	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs6830856	chr4:48336617-48336618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10050106	chr4:48336693-48336694	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188284992	chr4:48336702-48336703	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs180959631	chr4:48336706-48336707	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79854882	chr4:48336713-48336714	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186435595	chr4:48336723-48336724	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116286946	chr4:48336724-48336725	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559597369	chr4:48336744-48336745	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191236915	chr4:48336774-48336775	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs309873	chr4:48336820-48336821	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563255722	chr4:48336832-48336833	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530602473	chr4:48336865-48336866	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550403606	chr4:48336876-48336877	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77053830	chr4:48336948-48336949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76627893	chr4:48336968-48336969	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548135401	chr4:48336973-48336974	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141799338	chr4:48336979-48336980	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs309872	chr4:48336985-48336986	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183550330	chr4:48336996-48336997	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145528278	chr4:48337020-48337021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55824146	chr4:48337044-48337045	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186762997	chr4:48337075-48337076	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190729883	chr4:48337121-48337122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs67977239	chr4:48337166-48337167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183200906	chr4:48337186-48337187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534489923	chr4:48337226-48337227	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79261296	chr4:48337264-48337265	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577834785	chr4:48337287-48337288	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187939983	chr4:48337330-48337331	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563252166	chr4:48337353-48337354	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199911724	chr4:48337396-48337397	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79451805	chr4:48337401-48337402	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560940737	chr4:48337430-48337431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191220959	chr4:48337468-48337469	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115652757	chr4:48337510-48337511	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559814337	chr4:48337514-48337515	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7680001	chr4:48337515-48337516	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182256902	chr4:48337521-48337522	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188155185	chr4:48337555-48337556	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150094156	chr4:48337608-48337609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553005822	chr4:48337802-48337803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2008107	chr4:48337805-48337806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373474671	chr4:48337812-48337813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534524025	chr4:48337830-48337831	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553104525	chr4:48337877-48337878	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48330000-48342400	Weak transcription	Esophagus	oesophagus
2	chr4:48331000-48336400	Enhancers	NHEK	skin
3	chr4:48331000-48337400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:48331200-48336400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:48331600-48339400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:48331600-48339600	Weak transcription	Stomach Mucosa	stomach
7	chr4:48331600-48340800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:48332600-48339200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:48333000-48341800	Weak transcription	A549	lung
10	chr4:48333000-48342400	Weak transcription	Left Ventricle	heart
11	chr4:48333800-48338400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:48334000-48341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:48334200-48336600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:48334200-48337200	Weak transcription	NHLF	lung
15	chr4:48334200-48339600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:48334200-48340200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:48334200-48342000	Weak transcription	Fetal Heart	heart
18	chr4:48334200-48342000	Weak transcription	HSMM	muscle
19	chr4:48334200-48342200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:48334200-48342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:48334400-48336800	Weak transcription	HSMMtube	muscle
22	chr4:48334400-48337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:48334400-48342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:48334800-48337000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:48334800-48341600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:48335200-48336800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:48335600-48336800	Enhancers	K562	blood
28	chr4:48335600-48338400	Enhancers	Hela-S3	cervix
29	chr4:48335600-48339600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:48335800-48336400	Enhancers	HMEC	breast
31	chr4:48335800-48342000	Weak transcription	Fetal Kidney	kidney
32	chr4:48336000-48336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:48336000-48337600	Enhancers	Placenta	Placenta
34	chr4:48336000-48338000	Weak transcription	NHDF-Ad	bronchial
35	chr4:48336200-48336400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:48336200-48336400	Enhancers	Osteobl	bone
37	chr4:48336200-48336800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:48336200-48338200	Enhancers	Psoas Muscle	Psoas
39	chr4:48336400-48338400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:48336400-48338800	Weak transcription	NHEK	skin
41	chr4:48336400-48339000	Weak transcription	HMEC	breast
42	chr4:48336400-48339400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:48336400-48342000	Weak transcription	Osteobl	bone
44	chr4:48336600-48337000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:48336600-48338400	Enhancers	Fetal Muscle Leg	muscle
46	chr4:48336800-48337400	Enhancers	HSMMtube	muscle
47	chr4:48336800-48337600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr4:48336800-48337600	Flanking Active TSS	K562	blood
49	chr4:48336800-48337800	Enhancers	Fetal Thymus	thymus
50	chr4:48336800-48339200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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