Variant report

Variant	esv3420705
Chromosome Location	chr4:100273129-100277327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr4:100273786-100274058	T-47D	breast:	n/a	n/a
2	FOXA1	chr4:100275631-100275897	HepG2	liver:	n/a	n/a
3	FOXA1	chr4:100275676-100275938	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:100275622-100275912	HepG2	liver:	n/a	n/a
5	NFYB	chr4:100274895-100275131	K562	blood:	n/a	n/a
6	NFYB	chr4:100276928-100277274	K562	blood:	n/a	n/a
7	NFYB	chr4:100276985-100277259	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:100273612-100273698	ProgFib	skin:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100274039-100274089	PANC-1	pancreas:	n/a
2	chr4:100273995-100274045	ovcar-3	ovarian:	n/a
3	chr4:100274039-100274089	K562	blood:	n/a
4	chr4:100274710-100274760	RPTEC	kidney:	n/a
5	chr4:100274660-100274710	GM12892	blood:	n/a
6	chr4:100274710-100274760	SAEC	small airway:	n/a
7	chr4:100274660-100274710	BJ	skin:	n/a
8	chr4:100273995-100274045	LNCaP	prostate:	n/a
9	chr4:100273995-100274045	BE2_C	brain:	n/a
10	chr4:100274660-100274710	HCF	heart:	n/a
11	chr4:100274660-100274710	HNPCEpiC	eye:	n/a
12	chr4:100274710-100274760	Caco-2	colon:	n/a
13	chr4:100274660-100274710	HL-60	blood:	n/a
14	chr4:100273995-100274045	HMEC	breast:	n/a
15	chr4:100273995-100274045	GM12891	blood:	n/a
16	chr4:100274039-100274089	ProgFib	skin:	n/a
17	chr4:100273995-100274045	HEK293	kidney:	embryo
18	chr4:100273995-100274045	HRCEpiC	kidney:	n/a
19	chr4:100274710-100274760	HL-60	blood:	n/a
20	chr4:100274660-100274710	NB4	blood:	n/a
21	chr4:100274039-100274089	T-47D	breast:	n/a
22	chr4:100273995-100274045	GM06990	blood:	n/a
23	chr4:100273995-100274045	NHDF-neo	bronchial:	n/a
24	chr4:100274660-100274710	NHBE	bronchial:	n/a
25	chr4:100274710-100274760	H1-hESC	embryonic stem cell:	embryo
26	chr4:100273995-100274045	AG04450	lung:	fetal
27	chr4:100273995-100274045	HPAEpiC	pulmonary alveolar:	n/a
28	chr4:100273995-100274045	Caco-2	colon:	n/a
29	chr4:100274039-100274089	NHDF-neo	bronchial:	n/a
30	chr4:100274710-100274760	HCT-116	colon:	n/a
31	chr4:100274039-100274089	H1-hESC	embryonic stem cell:	embryo
32	chr4:100274710-100274760	AG09309	skin:	n/a
33	chr4:100273995-100274045	HUVEC	blood vessel:	n/a
34	chr4:100274660-100274710	AG09309	skin:	n/a
35	chr4:100274039-100274089	MCF10A-Er-Src	breast:	n/a
36	chr4:100274039-100274089	HUVEC	blood vessel:	n/a
37	chr4:100274710-100274760	ProgFib	skin:	n/a
38	chr4:100274039-100274089	Hepatocyte	liver:	n/a
39	chr4:100274660-100274710	GM12891	blood:	n/a
40	chr4:100273995-100274045	PrEC	prostate:	n/a
41	chr4:100274039-100274089	ovcar-3	ovarian:	n/a
42	chr4:100274710-100274760	PFSK-1	brain:	n/a
43	chr4:100274710-100274760	SKMC	muscle:	n/a
44	chr4:100274039-100274089	Caco-2	colon:	n/a
45	chr4:100274710-100274760	ovcar-3	ovarian:	n/a
46	chr4:100274039-100274089	NB4	blood:	n/a
47	chr4:100273995-100274045	HRPEpiC	eye:	n/a
48	chr4:100274039-100274089	AoSMC	blood vessel:	n/a
49	chr4:100274660-100274710	HCM	heart:	n/a
50	chr4:100274660-100274710	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100274015..100276033-chr4:100276643..100278857,2	K562	blood:

No data

Variant related genes	Relation type
ADH1C	TF binding region
ADH1C	CpG island
ENSG00000248144	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34761493	chr4:100273170-100273171	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11936869	chr4:100273173-100273174	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193095177	chr4:100273228-100273229	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528448046	chr4:100273246-100273247	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546625464	chr4:100273296-100273297	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536076289	chr4:100273332-100273333	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536910621	chr4:100273335-100273336	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184595501	chr4:100273342-100273343	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549519468	chr4:100273345-100273346	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566252664	chr4:100273346-100273347	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35221936	chr4:100273368-100273369	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs67512205	chr4:100273369-100273370	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10634918	chr4:100273372-100273373	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530011221	chr4:100273377-100273378	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189112940	chr4:100273422-100273423	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140391659	chr4:100273455-100273456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111397086	chr4:100273470-100273471	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565299377	chr4:100273487-100273488	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533052756	chr4:100273517-100273518	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181330442	chr4:100273518-100273519	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs36052336	chr4:100273594-100273595	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577605583	chr4:100273597-100273598	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537293342	chr4:100273633-100273634	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs55853380	chr4:100273669-100273670	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185590874	chr4:100273691-100273692	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567395934	chr4:100273699-100273700	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs35862892	chr4:100273702-100273703	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534583312	chr4:100273716-100273717	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552969081	chr4:100273734-100273735	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577588334	chr4:100273748-100273749	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs538914210	chr4:100273749-100273750	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs375338136	chr4:100273764-100273765	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189082966	chr4:100273766-100273767	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575737718	chr4:100273767-100273768	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542843719	chr4:100273772-100273773	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554629779	chr4:100273786-100273787	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541115853	chr4:100273803-100273804	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572969595	chr4:100273830-100273831	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369828432	chr4:100273835-100273836	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540351993	chr4:100273840-100273841	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72552717	chr4:100273864-100273865	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565086455	chr4:100273899-100273900	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181463769	chr4:100273933-100273934	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150712909	chr4:100273945-100273946	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs563649182	chr4:100273995-100273996	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs559691855	chr4:100273996-100273997	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs186711792	chr4:100273998-100273999	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs567484351	chr4:100274023-100274024	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs528165560	chr4:100274088-100274089	Flanking Active TSS Enhancers Weak transcription Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs368829611	chr4:100274096-100274097	Flanking Active TSS Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100245800-100274200	Weak transcription	Pancreas	Pancrea
2	chr4:100261200-100273800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:100261800-100273800	Weak transcription	Ovary	ovary
4	chr4:100263200-100273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:100264800-100274200	Weak transcription	Gastric	stomach
6	chr4:100268200-100274200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:100270000-100273200	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:100271000-100274000	Active TSS	Duodenum Mucosa	Duodenum
9	chr4:100271000-100274000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:100271400-100273800	Weak transcription	Fetal Lung	lung
11	chr4:100271600-100274000	Active TSS	Fetal Kidney	kidney
12	chr4:100271600-100274600	Active TSS	Rectal Smooth Muscle	rectum
13	chr4:100271800-100273800	Active TSS	Liver	Liver
14	chr4:100271800-100274200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr4:100272200-100274200	Weak transcription	Colonic Mucosa	Colon
16	chr4:100272600-100273800	Active TSS	Fetal Intestine Small	intestine
17	chr4:100272600-100274000	Active TSS	Fetal Intestine Large	intestine
18	chr4:100272800-100273200	Active TSS	Fetal Stomach	stomach
19	chr4:100272800-100273600	Active TSS	Adipose Nuclei	Adipose
20	chr4:100273000-100273800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:100273000-100273800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:100273000-100274200	Weak transcription	Stomach Mucosa	stomach
23	chr4:100273200-100273400	Active TSS	Fetal Muscle Leg	muscle
24	chr4:100273200-100274200	Weak transcription	Fetal Stomach	stomach
25	chr4:100273400-100273600	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:100273600-100273800	Active TSS	Fetal Muscle Leg	muscle
27	chr4:100273600-100274600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr4:100273800-100274000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:100273800-100274000	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr4:100273800-100274000	Flanking Active TSS	Ovary	ovary
31	chr4:100273800-100274200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr4:100273800-100274200	Active TSS	Fetal Muscle Trunk	muscle
33	chr4:100273800-100274200	Active TSS	Psoas Muscle	Psoas
34	chr4:100273800-100274400	Enhancers	Colon Smooth Muscle	Colon
35	chr4:100273800-100274400	Active TSS	Right Atrium	heart
36	chr4:100273800-100274600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:100273800-100274600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:100273800-100274800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:100273800-100274800	Flanking Active TSS	Liver	Liver
40	chr4:100273800-100274800	Flanking Active TSS	Fetal Lung	lung
41	chr4:100273800-100275000	Enhancers	Fetal Muscle Leg	muscle
42	chr4:100274000-100274200	Active TSS	Ovary	ovary
43	chr4:100274000-100274200	Weak transcription	Small Intestine	intestine
44	chr4:100274000-100274400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:100274000-100274600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:100274000-100274600	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr4:100274000-100274600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr4:100274000-100274600	Enhancers	NHLF	lung
49	chr4:100274000-100274800	Enhancers	Fetal Kidney	kidney
50	chr4:100274000-100275000	Enhancers	Fetal Intestine Large	intestine

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