Variant report

Variant	esv2422027
Chromosome Location	chr4:106936604-106946435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:106945040-106945190	GM12875	blood:	n/a	n/a
2	CTCF	chr4:106943400-106943550	GM12873	blood:	n/a	n/a
3	CTCF	chr4:106939880-106940030	HepG2	liver:	n/a	n/a
4	EP300	chr4:106940971-106941220	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr4:106940774-106941297	SK-N-SH	brain:	n/a	n/a
6	ESR1	chr4:106938930-106939370	ECC-1	luminal epithelium:	n/a	n/a
7	GATA3	chr4:106940917-106941484	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr4:106940777-106941477	SK-N-SH	brain:	n/a	n/a
9	JUND	chr4:106940936-106941421	SK-N-SH	brain:	n/a	n/a
10	MAFF	chr4:106945491-106945654	HepG2	liver:	n/a	chr4:106945610-106945628
11	MAFK	chr4:106945461-106945745	HepG2	liver:	n/a	chr4:106945613-106945633
12	MAFK	chr4:106945487-106945756	HepG2	liver:	n/a	chr4:106945613-106945633
13	MAX	chr4:106938139-106938178	NB4	blood:	n/a	chr4:106938140-106938150 chr4:106938156-106938166
14	MAZ	chr4:106936968-106937015	HepG2	liver:	n/a	n/a
15	MEF2A	chr4:106940876-106941444	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr4:106940900-106941417	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr4:106940820-106941419	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr4:106940805-106941344	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr4:106940955-106941290	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr4:106944598-106944723	GM12878	blood:	n/a	n/a
21	RCOR1	chr4:106942989-106943240	K562	blood:	n/a	n/a
22	RXRA	chr4:106940864-106941358	SK-N-SH	brain:	n/a	n/a
23	STAT3	chr4:106942208-106942315	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF12	chr4:106940811-106941438	SK-N-SH	brain:	n/a	n/a
25	TCF12	chr4:106940900-106941465	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr4:106942906-106943182	K562	blood:	n/a	n/a
27	TEAD4	chr4:106942917-106943280	K562	blood:	n/a	n/a
28	TEAD4	chr4:106940775-106941269	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106933880..106935775-chr4:106939732..106941383,2	K562	blood:
2	chr4:106934510..106937161-chr4:106937686..106939688,2	K562	blood:
3	chr4:106934510..106937161-chr4:106937686..106939688,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBCK-1	chr4:106940966-106943635	XLOC_004040
2	lnc-TBCK-1	chr4:106939826-106939916	XLOC_004040

No data

Variant related genes	Relation type
ENSG00000249635	TF binding region

Extended variants
information (count: 334 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10001483	chr4:106936604-106936605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548196355	chr4:106936606-106936607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548718218	chr4:106936619-106936620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188872524	chr4:106936655-106936656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534352556	chr4:106936668-106936669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552030647	chr4:106936703-106936704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571868975	chr4:106936715-106936716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139018887	chr4:106936756-106936757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142351913	chr4:106936848-106936849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530495386	chr4:106936885-106936886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574329933	chr4:106936888-106936889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536733147	chr4:106936941-106936942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72958898	chr4:106936988-106936989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573250980	chr4:106937014-106937015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545092770	chr4:106937026-106937027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140857146	chr4:106937049-106937050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199925947	chr4:106937052-106937053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201075464	chr4:106937053-106937054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564369218	chr4:106937060-106937061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191682946	chr4:106937081-106937082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368312722	chr4:106937095-106937096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534818741	chr4:106937146-106937147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577866256	chr4:106937159-106937160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543559431	chr4:106937335-106937336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78446793	chr4:106937360-106937361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145952017	chr4:106937403-106937404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115959230	chr4:106937412-106937413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566209229	chr4:106937424-106937425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528050074	chr4:106937437-106937438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551106363	chr4:106937444-106937445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571870159	chr4:106937481-106937482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138578754	chr4:106937573-106937574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11944630	chr4:106937630-106937631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567843634	chr4:106937632-106937633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34357030	chr4:106937641-106937642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368166770	chr4:106937669-106937670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149278981	chr4:106937705-106937706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536324975	chr4:106937707-106937708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114125066	chr4:106937709-106937710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573388859	chr4:106937746-106937747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376649658	chr4:106937802-106937803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369733503	chr4:106937806-106937807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144507848	chr4:106937897-106937898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554982527	chr4:106937900-106937901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558680888	chr4:106937914-106937915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575644378	chr4:106937939-106937940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148446436	chr4:106937987-106937988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142621816	chr4:106938124-106938125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537423571	chr4:106938145-106938146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183594133	chr4:106938183-106938184	Weak transcription	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
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
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
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106935000-106948400	Weak transcription	Aorta	Aorta
2	chr4:106938600-106940000	Enhancers	Brain Germinal Matrix	brain
3	chr4:106938800-106939200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:106938800-106939400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:106939000-106939400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:106939000-106939400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:106939200-106939400	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:106939800-106942400	Enhancers	NHDF-Ad	bronchial
9	chr4:106940400-106941600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:106940400-106941600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:106940400-106942000	Enhancers	HSMM	muscle
12	chr4:106940400-106943000	Enhancers	HSMMtube	muscle
13	chr4:106940600-106941600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:106940800-106941600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:106940800-106941800	Enhancers	Osteobl	bone
16	chr4:106941000-106941400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:106941000-106941800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:106941000-106943200	Enhancers	Fetal Heart	heart
19	chr4:106941000-106944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:106941200-106941400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:106941200-106941400	Enhancers	Left Ventricle	heart
22	chr4:106941200-106944400	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:106941400-106943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:106941800-106942000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:106942000-106942400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:106942000-106942600	Weak transcription	HSMM	muscle
27	chr4:106942400-106942800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:106942600-106942800	Enhancers	HSMM	muscle
29	chr4:106942800-106943400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:106943000-106943800	Enhancers	Left Ventricle	heart
31	chr4:106943000-106945400	Weak transcription	Fetal Intestine Small	intestine
32	chr4:106943200-106943600	Flanking Active TSS	Fetal Heart	heart
33	chr4:106943400-106944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:106943600-106944400	Enhancers	Fetal Heart	heart
35	chr4:106945400-106945600	ZNF genes & repeats	Fetal Intestine Small	intestine

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