Variant report

Variant	esv3354284
Chromosome Location	chr4:100274829-100279127
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	FOXA1	chr4:100275622-100275912	HepG2	liver:	n/a	n/a
2	FOXA1	chr4:100275676-100275938	HepG2	liver:	n/a	n/a
3	FOXA1	chr4:100275631-100275897	HepG2	liver:	n/a	n/a
4	NFYB	chr4:100274895-100275131	K562	blood:	n/a	n/a
5	NFYB	chr4:100276928-100277274	K562	blood:	n/a	n/a
6	NFYB	chr4:100276985-100277259	GM12878	blood:	n/a	n/a
7	SPI1	chr4:100278243-100278460	GM12891	blood:	n/a	chr4:100278341-100278350

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

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

Extended variants
information (count: 213 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	rs202142689	chr4:100274878-100274879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112375134	chr4:100274886-100274887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1629838	chr4:100274896-100274897	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201083139	chr4:100274946-100274947	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs199602852	chr4:100274947-100274948	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577301003	chr4:100274958-100274959	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200393334	chr4:100274963-100274964	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs35963940	chr4:100274965-100274966	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs11499824	chr4:100274983-100274984	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11499825	chr4:100275013-100275014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200664311	chr4:100275026-100275027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368165084	chr4:100275027-100275028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201814124	chr4:100275030-100275031	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs369998035	chr4:100275075-100275076	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556385336	chr4:100275078-100275079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542900439	chr4:100275079-100275080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs561205525	chr4:100275081-100275082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573069939	chr4:100275082-100275083	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553111330	chr4:100275086-100275087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs574751087	chr4:100275122-100275123	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564949924	chr4:100275151-100275152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143305777	chr4:100275158-100275159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535046677	chr4:100275212-100275213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182545533	chr4:100275220-100275221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562106611	chr4:100275221-100275222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529681737	chr4:100275295-100275296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2584453	chr4:100275305-100275306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566852440	chr4:100275349-100275350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36095748	chr4:100275386-100275387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377369362	chr4:100275414-100275415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552703540	chr4:100275416-100275417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570978424	chr4:100275418-100275419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34484557	chr4:100275445-100275446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568331250	chr4:100275453-100275454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186870108	chr4:100275495-100275496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543688858	chr4:100275515-100275516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191648630	chr4:100275564-100275565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571581049	chr4:100275566-100275567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535896661	chr4:100275579-100275580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554880485	chr4:100275623-100275624	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368280745	chr4:100275629-100275630	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142381102	chr4:100275630-100275631	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs55908313	chr4:100275632-100275633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573142557	chr4:100275653-100275654	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532117111	chr4:100275677-100275678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565044545	chr4:100275678-100275679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs576973857	chr4:100275697-100275698	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541086563	chr4:100275699-100275700	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs559107871	chr4:100275738-100275739	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs537064828	chr4:100275741-100275742	Weak transcription	TF binding region	1 gene(s)	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100273800-100275000	Enhancers	Fetal Muscle Leg	muscle
2	chr4:100274000-100275000	Enhancers	Fetal Intestine Large	intestine
3	chr4:100274000-100275000	Enhancers	Fetal Intestine Small	intestine
4	chr4:100274200-100275000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr4:100274200-100275000	Enhancers	Small Intestine	intestine
6	chr4:100274200-100275000	Enhancers	Stomach Mucosa	stomach
7	chr4:100274400-100275000	Enhancers	Ovary	ovary
8	chr4:100274400-100279000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:100274600-100275000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:100274600-100275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:100274600-100275000	Enhancers	Adipose Nuclei	Adipose
12	chr4:100274600-100284600	Weak transcription	Aorta	Aorta
13	chr4:100274800-100275000	Enhancers	Colonic Mucosa	Colon
14	chr4:100274800-100278800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:100274800-100279400	Weak transcription	Liver	Liver
16	chr4:100275000-100279000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:100275000-100279000	Weak transcription	Adipose Nuclei	Adipose
18	chr4:100277200-100278000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:100277400-100277600	Enhancers	Dnd41	blood
20	chr4:100277600-100278000	Flanking Active TSS	Dnd41	blood
21	chr4:100278000-100278600	Enhancers	Dnd41	blood
22	chr4:100278000-100279000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:100278800-100279400	Enhancers	Duodenum Mucosa	Duodenum
24	chr4:100278800-100279400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:100279000-100279200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:100279000-100279200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:100279000-100279800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:100279000-100279800	Enhancers	Adipose Nuclei	Adipose

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