Variant report

Variant	esv12978
Chromosome Location	chr4:107234806-107235341
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	BHLHE40	chr4:107234291-107234938	K562	blood:	n/a	n/a
2	HEY1	chr4:107234781-107235214	HepG2	liver:	n/a	n/a
3	IRF1	chr4:107234047-107235176	K562	blood:	n/a	chr4:107234392-107234404 chr4:107234392-107234409
4	POLR2A	chr4:107234819-107234862	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:107233370-107235724	K562	blood:	n/a	n/a
6	POLR2A	chr4:107234789-107234818	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:107158622..107160496-chr4:107233252..107235582,2	MCF-7	breast:
2	chr4:107217698..107220197-chr4:107235297..107237150,2	MCF-7	breast:
3	chr4:107226289..107231817-chr4:107234990..107238909,9	MCF-7	breast:

Variant related genes	Relation type
AIMP1	TF binding region
TBCK	TF binding region
ENSG00000145348	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546079939	chr4:107234812-107234813	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs563224516	chr4:107234844-107234845	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs531797428	chr4:107234868-107234869	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542373787	chr4:107234876-107234877	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374623036	chr4:107234877-107234878	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs562165247	chr4:107234886-107234887	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs527737248	chr4:107234908-107234909	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs117381664	chr4:107234929-107234930	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376143710	chr4:107234939-107234940	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs570847429	chr4:107234956-107234957	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542195508	chr4:107234963-107234964	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs533415334	chr4:107234985-107234986	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs182282191	chr4:107235018-107235019	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3762945	chr4:107235064-107235065	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs537768982	chr4:107235189-107235190	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs186890868	chr4:107235213-107235214	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs190437230	chr4:107235235-107235236	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs533266166	chr4:107235239-107235240	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs79877965	chr4:107235240-107235241	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs373881647	chr4:107235260-107235261	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs533602489	chr4:107235262-107235263	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs547902423	chr4:107235338-107235339	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 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
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
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107114600-107236000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:107155600-107236000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr4:107178000-107236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:107178000-107236200	Weak transcription	Right Ventricle	heart
5	chr4:107178000-107236600	Weak transcription	Esophagus	oesophagus
6	chr4:107178000-107236600	Weak transcription	Pancreas	Pancrea
7	chr4:107178200-107236000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:107198800-107235600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:107202800-107236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:107204000-107235800	Weak transcription	Psoas Muscle	Psoas
11	chr4:107204000-107236200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:107205600-107236000	Weak transcription	Brain Anterior Caudate	brain
13	chr4:107209200-107236000	Weak transcription	HMEC	breast
14	chr4:107213200-107235600	Weak transcription	Fetal Kidney	kidney
15	chr4:107213200-107236200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:107213400-107236000	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:107213400-107236200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:107215600-107236000	Weak transcription	Brain Germinal Matrix	brain
19	chr4:107215600-107236200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:107215800-107236600	Weak transcription	Small Intestine	intestine
21	chr4:107215800-107236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:107216000-107235600	Weak transcription	Fetal Intestine Small	intestine
23	chr4:107216200-107236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:107216200-107236200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:107216200-107236200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:107216400-107235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:107216400-107236000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:107216400-107236200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:107216400-107236200	Weak transcription	Thymus	Thymus
30	chr4:107216400-107236600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:107217800-107236000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:107218800-107236200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:107220200-107235600	Weak transcription	Fetal Brain Male	brain
34	chr4:107221200-107236000	Weak transcription	Placenta	Placenta
35	chr4:107221200-107236000	Weak transcription	HUVEC	blood vessel
36	chr4:107221200-107236600	Weak transcription	Left Ventricle	heart
37	chr4:107221400-107236000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:107221400-107236000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:107221400-107236200	Weak transcription	Fetal Stomach	stomach
40	chr4:107221800-107236200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:107223600-107236000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:107223600-107236200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:107223600-107236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:107224000-107236200	Weak transcription	Stomach Mucosa	stomach
45	chr4:107224000-107236400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:107226200-107235600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:107226200-107235800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:107227400-107236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:107228000-107235600	Weak transcription	Fetal Intestine Large	intestine
50	chr4:107228000-107236200	Weak transcription	Fetal Muscle Leg	muscle

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