Variant report

Variant	esv3351705
Chromosome Location	chr4:74700588-74702986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:428)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:74702213-74702624	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr4:74702563-74702790	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD2	chr4:74702288-74702901	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr4:74701980-74703004	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:74702280-74702430	HRE	kidney:	n/a	n/a
6	CTCF	chr4:74702560-74702710	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr4:74702400-74702550	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr4:74702360-74702510	HCM	heart:	n/a	n/a
9	CTCF	chr4:74702320-74702470	HMF	breast:	n/a	n/a
10	GTF2F1	chr4:74702373-74702377	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr4:74702684-74702717	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr4:74702243-74702584	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr4:74702063-74702068	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr4:74702321-74702567	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr4:74702782-74702871	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:74702237-74702496	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:74702160-74702986	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:74702220-74702673	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:74702250-74702786	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:74702228-74702512	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:74702572-74702949	HL-60	blood:	n/a	n/a
22	RAD21	chr4:74702231-74702797	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chr4:74702327-74702917	H1-hESC	embryonic stem cell:	n/a	n/a
24	SPI1	chr4:74702574-74703074	HL-60	blood:	n/a	n/a
25	SPI1	chr4:74701889-74702314	HL-60	blood:	n/a	n/a
26	TAF1	chr4:74702233-74702736	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr4:74702152-74702893	H1-hESC	embryonic stem cell:	n/a	n/a
28	TBP	chr4:74702330-74702847	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF7L2	chr4:74702887-74703409	PANC-1	pancreas:	n/a	n/a
30	TEAD4	chr4:74702098-74702813	H1-hESC	embryonic stem cell:	n/a	n/a
31	TEAD4	chr4:74702144-74702546	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF143	chr4:74702267-74702795	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZNF263	chr4:74702140-74702922	HEK293-T-REx	kidney:	n/a	chr4:74702408-74702429 chr4:74702219-74702228

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:74702175-74702225	BE2_C	brain:	n/a
2	chr4:74702175-74702225	BE2_C	brain:	n/a
3	chr4:74702421-74702471	HCF	heart:	n/a
4	chr4:74702448-74702498	ovcar-3	ovarian:	n/a
5	chr4:74702713-74702763	HRE	kidney:	n/a
6	chr4:74702621-74702671	HL-60	blood:	n/a
7	chr4:74702175-74702225	PANC-1	pancreas:	n/a
8	chr4:74702175-74702225	NT2-D1	testis:	n/a
9	chr4:74702621-74702671	AoSMC	blood vessel:	n/a
10	chr4:74702421-74702471	GM12891	blood:	n/a
11	chr4:74702448-74702498	HMEC	breast:	n/a
12	chr4:74702075-74702125	AG04450	lung:	fetal
13	chr4:74702728-74702778	GM12891	blood:	n/a
14	chr4:74702448-74702498	CMK	blood:	n/a
15	chr4:74702621-74702671	U87	brain:	n/a
16	chr4:74702713-74702763	Caco-2	colon:	n/a
17	chr4:74702421-74702471	HRE	kidney:	n/a
18	chr4:74702713-74702763	SK-N-SH_RA	brain:	n/a
19	chr4:74702175-74702225	HCPEpiC	choroid plexus:	n/a
20	chr4:74702448-74702498	NHBE	bronchial:	n/a
21	chr4:74702713-74702763	ECC-1	luminal epithelium:	n/a
22	chr4:74702075-74702125	HCPEpiC	choroid plexus:	n/a
23	chr4:74702448-74702498	Hela-S3	cervix:	n/a
24	chr4:74702421-74702471	NHBE	bronchial:	n/a
25	chr4:74702621-74702671	HCF	heart:	n/a
26	chr4:74702448-74702498	AG10803	skin:	n/a
27	chr4:74702621-74702671	AG10803	skin:	n/a
28	chr4:74702448-74702498	RPTEC	kidney:	n/a
29	chr4:74702713-74702763	GM12891	blood:	n/a
30	chr4:74702421-74702471	RPTEC	kidney:	n/a
31	chr4:74702448-74702498	MCF-7	breast:	n/a
32	chr4:74702075-74702125	HRE	kidney:	n/a
33	chr4:74702448-74702498	HCPEpiC	choroid plexus:	n/a
34	chr4:74702713-74702763	U87	brain:	n/a
35	chr4:74702713-74702763	SK-N-SH	brain:	n/a
36	chr4:74702175-74702225	MCF-7	breast:	n/a
37	chr4:74702621-74702671	BE2_C	brain:	n/a
38	chr4:74702421-74702471	NT2-D1	testis:	n/a
39	chr4:74702728-74702778	PrEC	prostate:	n/a
40	chr4:74702075-74702125	SK-N-SH_RA	brain:	n/a
41	chr4:74702175-74702225	Hepatocyte	liver:	n/a
42	chr4:74702713-74702763	AG04450	lung:	fetal
43	chr4:74702713-74702763	AG10803	skin:	n/a
44	chr4:74702075-74702125	HMEC	breast:	n/a
45	chr4:74702728-74702778	BJ	skin:	n/a
46	chr4:74702421-74702471	BJ	skin:	n/a
47	chr4:74702175-74702225	NH-A	brain:	n/a
48	chr4:74702421-74702471	HRPEpiC	eye:	n/a
49	chr4:74702175-74702225	NB4	blood:	n/a
50	chr4:74702075-74702125	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74699293..74701017-chr4:74704249..74705826,2	K562	blood:

No data

Variant related genes	Relation type
CXCL6	TF binding region
CXCL6	CpG island

Extended variants
information (count: 134 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367889055	chr4:74700633-74700634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541841237	chr4:74700672-74700673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371648091	chr4:74700689-74700690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187062613	chr4:74700733-74700734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191051187	chr4:74700736-74700737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182808332	chr4:74700761-74700762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552358335	chr4:74700763-74700764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564274419	chr4:74700778-74700779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532608745	chr4:74700781-74700782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367703921	chr4:74700789-74700790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550810167	chr4:74700803-74700804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372908165	chr4:74700824-74700825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569367483	chr4:74700825-74700826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11930978	chr4:74700826-74700827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548218936	chr4:74700871-74700872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369594656	chr4:74700923-74700924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372298122	chr4:74700930-74700931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202061826	chr4:74700960-74700961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186719536	chr4:74700969-74700970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190035987	chr4:74700970-74700971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141544629	chr4:74700995-74700996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60648136	chr4:74700997-74700998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534225105	chr4:74701017-74701018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201778580	chr4:74701034-74701035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199695616	chr4:74701043-74701044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368977338	chr4:74701071-74701072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558699463	chr4:74701097-74701098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577040172	chr4:74701098-74701099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538468372	chr4:74701099-74701100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555966018	chr4:74701122-74701123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113240581	chr4:74701129-74701130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574524557	chr4:74701165-74701166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62312417	chr4:74701171-74701172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560197471	chr4:74701198-74701199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572320914	chr4:74701206-74701207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546139305	chr4:74701209-74701210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376374078	chr4:74701210-74701211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531389242	chr4:74701221-74701222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370788502	chr4:74701225-74701226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549975472	chr4:74701299-74701300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373224701	chr4:74701304-74701305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376690963	chr4:74701323-74701324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370920343	chr4:74701335-74701336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530222195	chr4:74701336-74701337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148215373	chr4:74701349-74701350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566551076	chr4:74701384-74701385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183336972	chr4:74701385-74701386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552439582	chr4:74701409-74701410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571153553	chr4:74701431-74701432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140560787	chr4:74701493-74701494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	22522925	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74695200-74701800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:74695400-74702000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:74698800-74701800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:74698800-74702000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:74698800-74702200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:74699000-74702000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:74699000-74702000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:74699000-74702000	Weak transcription	NHLF	lung
9	chr4:74699200-74702000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74699200-74702200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:74699200-74702200	Weak transcription	NH-A	brain
12	chr4:74699400-74702000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:74699400-74702000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:74699400-74702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:74699400-74702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:74699400-74702000	Weak transcription	NHDF-Ad	bronchial
17	chr4:74699400-74702000	Weak transcription	Osteobl	bone
18	chr4:74699400-74702400	Weak transcription	HSMM	muscle
19	chr4:74699600-74702400	Weak transcription	HMEC	breast
20	chr4:74699800-74702000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:74699800-74702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:74699800-74702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:74699800-74702200	Weak transcription	NHEK	skin
24	chr4:74701800-74702000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:74701800-74702000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:74701800-74702000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:74701800-74702200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr4:74702000-74702200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:74702000-74702200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:74702000-74702200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:74702000-74702200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:74702000-74702200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:74702000-74702200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr4:74702000-74702200	Enhancers	Primary T cells from cord blood	blood
35	chr4:74702000-74702200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:74702000-74702200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:74702000-74702200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:74702000-74702200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:74702000-74702200	Enhancers	Adipose Nuclei	Adipose
40	chr4:74702000-74702200	Enhancers	Liver	Liver
41	chr4:74702000-74702200	Enhancers	Brain Anterior Caudate	brain
42	chr4:74702000-74702200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr4:74702000-74702200	Enhancers	Colonic Mucosa	Colon
44	chr4:74702000-74702200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
45	chr4:74702000-74702200	Enhancers	Esophagus	oesophagus
46	chr4:74702000-74702200	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr4:74702000-74702200	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr4:74702000-74702200	Enhancers	Stomach Mucosa	stomach
49	chr4:74702000-74702200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:74702000-74702400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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