Variant report

Variant	esv3379316
Chromosome Location	chr4:74977405-74978942
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	CTCF	chr4:74977980-74978130	HCFaa	heart:	n/a	n/a
2	CTCF	chr4:74977880-74978030	AoAF	blood vessel:	n/a	n/a
3	CTCF	chr4:74977820-74977970	RPTEC	kidney:	n/a	n/a
4	CTCF	chr4:74977820-74977970	NHEK	skin:	n/a	n/a
5	CTCF	chr4:74977900-74978050	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr4:74977870-74978058	NHEK	skin:	n/a	n/a
7	CTCF	chr4:74977900-74978050	HMEC	breast:	n/a	n/a
8	CTCF	chr4:74978000-74978150	SAEC	small airway:	n/a	n/a
9	CTCF	chr4:74977840-74977990	HMEC	breast:	n/a	n/a
10	CTCF	chr4:74977860-74978010	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr4:74977900-74978050	NHEK	skin:	n/a	n/a
12	CTCF	chr4:74977960-74978110	RPTEC	kidney:	n/a	n/a
13	CTCF	chr4:74977860-74978010	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr4:74977860-74978010	SAEC	small airway:	n/a	n/a
15	CTCF	chr4:74977940-74978090	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr4:74977920-74978070	HBMEC	blood vessel:	n/a	n/a
17	EP300	chr4:74977496-74978258	ECC-1	luminal epithelium:	n/a	n/a
18	FOS	chr4:74977690-74978067	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:74978495-74978695	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
20	FOS	chr4:74977693-74978009	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:74977683-74978045	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:74978443-74978751	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
23	FOS	chr4:74978442-74978793	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
24	FOS	chr4:74977638-74978044	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:74978455-74978794	MCF10A-Er-Src	breast:	n/a	chr4:74978612-74978622 chr4:74978613-74978621 chr4:74978612-74978622 chr4:74978612-74978622 chr4:74978612-74978622
26	MAX	chr4:74977768-74978605	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr4:74977701-74978101	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr4:74977692-74978084	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr4:74978325-74978646	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr4:74978107-74978652	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr4:74977987-74978044	Gliobla	brain:	n/a	n/a
32	POLR2A	chr4:74977195-74978407	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr4:74977589-74978072	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr4:74977710-74977994	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr4:74977850-74978130	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr4:74977693-74978001	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr4:74977699-74977989	MCF10A-Er-Src	breast:	n/a	n/a
38	TCF12	chr4:74977564-74978709	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74976407..74978358-chr4:74989024..74991226,2	K562	blood:
2	chr4:74975401..74977757-chr4:74979234..74981426,2	K562	blood:
3	chr4:74975738..74977942-chr4:74982143..74984309,2	K562	blood:
4	chr4:74969971..74972171-chr4:74976711..74978462,2	K562	blood:
5	chr4:74976042..74977879-chr4:75018790..75020773,2	K562	blood:
6	chr4:74902531..74904905-chr4:74978906..74980803,2	K562	blood:

Variant related genes	Relation type
MTHFD2L	TF binding region
ENSG00000163738	chromatin interactions
ENSG00000163734	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554261563	chr4:74977413-74977414	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527905374	chr4:74977446-74977447	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574155858	chr4:74977487-74977488	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs149253858	chr4:74977488-74977489	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570494105	chr4:74977497-74977498	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185395828	chr4:74977568-74977569	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539628715	chr4:74977577-74977578	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555694887	chr4:74977634-74977635	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188694110	chr4:74977647-74977648	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535330851	chr4:74977653-74977654	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28576753	chr4:74977712-74977713	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146176407	chr4:74977716-74977717	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545716778	chr4:74977719-74977720	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559001379	chr4:74977751-74977752	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577315166	chr4:74977761-74977762	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1371799	chr4:74977837-74977838	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
17	rs185777339	chr4:74977858-74977859	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530136692	chr4:74977863-74977864	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542516052	chr4:74977888-74977889	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139248536	chr4:74977930-74977931	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144036672	chr4:74977931-74977932	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552540352	chr4:74977932-74977933	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs146124202	chr4:74977951-74977952	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs72652939	chr4:74977957-74977958	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35274961	chr4:74977969-74977970	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs532126391	chr4:74978010-74978011	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs374611097	chr4:74978012-74978013	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368607528	chr4:74978028-74978029	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549481530	chr4:74978032-74978033	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567690758	chr4:74978143-74978144	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372067539	chr4:74978157-74978158	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs117058099	chr4:74978174-74978175	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs553637001	chr4:74978177-74978178	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148763292	chr4:74978207-74978208	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565878436	chr4:74978230-74978231	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539619102	chr4:74978236-74978237	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536937422	chr4:74978336-74978337	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1866755	chr4:74978340-74978341	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs576198626	chr4:74978345-74978346	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191074528	chr4:74978357-74978358	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs556720091	chr4:74978420-74978421	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574867439	chr4:74978426-74978427	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563177406	chr4:74978466-74978467	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542283107	chr4:74978467-74978468	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs531831699	chr4:74978519-74978520	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574867184	chr4:74978528-74978529	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs142465919	chr4:74978542-74978543	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs512947	chr4:74978558-74978559	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564490181	chr4:74978565-74978566	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs183712324	chr4:74978581-74978582	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74966800-74978000	Weak transcription	Gastric	stomach
2	chr4:74971800-74977800	Weak transcription	Brain Anterior Caudate	brain
3	chr4:74972000-74982000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:74972200-74978000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:74972800-74980200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74973000-74978600	Enhancers	HUVEC	blood vessel
7	chr4:74973400-74980200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74974200-74981000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:74974400-74978000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:74974600-74978000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:74975200-74977800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:74975400-74977600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:74975400-74977600	Weak transcription	Right Atrium	heart
14	chr4:74975400-74977800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:74975400-74978000	Weak transcription	Aorta	Aorta
16	chr4:74975600-74978000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:74975600-74978000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:74975600-74978000	Weak transcription	Pancreas	Pancrea
19	chr4:74975600-74980000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:74975600-74980800	Enhancers	NHDF-Ad	bronchial
21	chr4:74975800-74977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:74975800-74978000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:74975800-74978600	Enhancers	HSMMtube	muscle
24	chr4:74975800-74980000	Enhancers	HMEC	breast
25	chr4:74975800-74980800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:74975800-74980800	Enhancers	Osteobl	bone
27	chr4:74975800-74981800	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:74975800-74982600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:74976000-74977600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:74976000-74980200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:74976000-74982200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:74976000-74982600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:74976000-74984400	Enhancers	Hela-S3	cervix
34	chr4:74976200-74977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:74976200-74979000	Enhancers	NH-A	brain
36	chr4:74976600-74977800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:74976600-74978400	Enhancers	A549	lung
38	chr4:74976600-74978600	Enhancers	HSMM	muscle
39	chr4:74976600-74978800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:74976600-74979200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:74976600-74979600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:74976600-74980800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:74977000-74978400	Enhancers	Adipose Nuclei	Adipose
44	chr4:74977000-74978400	Enhancers	Left Ventricle	heart
45	chr4:74977000-74978400	Enhancers	Stomach Mucosa	stomach
46	chr4:74977000-74980800	Enhancers	Placenta	Placenta
47	chr4:74977200-74981000	Weak transcription	Liver	Liver
48	chr4:74977200-74982200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:74977200-74983000	Weak transcription	Fetal Intestine Large	intestine
50	chr4:74977400-74977600	Enhancers	Sigmoid Colon	Sigmoid Colon

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