Variant report

Variant	nsv293467
Chromosome Location	chr4:124332747-124335560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124331362..124333358-chr4:124337314..124340093,2	K562	blood:
2	chr4:124319548..124321314-chr4:124331962..124333855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164056	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557745362	chr4:124332757-124332758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571180106	chr4:124332758-124332759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149336784	chr4:124332760-124332761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529737846	chr4:124332780-124332781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373066408	chr4:124332785-124332786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs449103	chr4:124332804-124332805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573746790	chr4:124332848-124332849	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs442351	chr4:124332929-124332930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200360205	chr4:124332942-124332943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201024234	chr4:124332951-124332952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373495369	chr4:124332989-124332990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188190267	chr4:124333096-124333097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371996504	chr4:124333125-124333126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs550500557	chr4:124333148-124333149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569142091	chr4:124333168-124333169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368244661	chr4:124333172-124333173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564893527	chr4:124333200-124333201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572098710	chr4:124333215-124333216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540912446	chr4:124333308-124333309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs58889642	chr4:124333383-124333384	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374870691	chr4:124333392-124333393	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570147694	chr4:124333429-124333430	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76862452	chr4:124333454-124333455	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549564682	chr4:124333486-124333487	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570271794	chr4:124333520-124333521	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537596484	chr4:124333571-124333572	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562807998	chr4:124333628-124333629	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs366043	chr4:124333649-124333650	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551490217	chr4:124333668-124333669	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs407317	chr4:124333710-124333711	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs533973584	chr4:124333730-124333731	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192760748	chr4:124333733-124333734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567552767	chr4:124333745-124333746	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375183960	chr4:124333769-124333770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566137674	chr4:124333829-124333830	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536017468	chr4:124333894-124333895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528066223	chr4:124333965-124333966	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184457516	chr4:124334076-124334077	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76649568	chr4:124334136-124334137	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576024843	chr4:124334140-124334141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538715357	chr4:124334175-124334176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs923982	chr4:124334279-124334280	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572059496	chr4:124334280-124334281	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs74429551	chr4:124334356-124334357	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560584649	chr4:124334365-124334366	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs61042813	chr4:124334370-124334371	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs542826361	chr4:124334378-124334379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35558826	chr4:124334420-124334421	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs536136026	chr4:124334433-124334434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs188439085	chr4:124334454-124334455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124321400-124337200	Weak transcription	A549	lung
2	chr4:124321800-124337400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:124322400-124334000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:124322800-124339000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:124323400-124332800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:124323600-124334400	Weak transcription	Gastric	stomach
7	chr4:124323800-124332800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:124323800-124333200	Weak transcription	Primary T cells from cord blood	blood
9	chr4:124323800-124337400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:124323800-124339400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:124324000-124333600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:124324000-124334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:124324000-124334000	Weak transcription	NHDF-Ad	bronchial
14	chr4:124324000-124339000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:124324000-124339600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:124324400-124334200	Weak transcription	Spleen	Spleen
17	chr4:124324400-124337200	Weak transcription	Ovary	ovary
18	chr4:124324600-124332800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:124324600-124332800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:124324600-124333200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:124324600-124333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:124324600-124333200	Weak transcription	Thymus	Thymus
23	chr4:124324600-124333200	Weak transcription	HSMMtube	muscle
24	chr4:124324600-124334000	Weak transcription	Aorta	Aorta
25	chr4:124324600-124334200	Weak transcription	Fetal Stomach	stomach
26	chr4:124324600-124334400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:124324600-124337200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:124324600-124337200	Weak transcription	HMEC	breast
29	chr4:124324800-124337200	Weak transcription	Placenta	Placenta
30	chr4:124325000-124333600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:124326200-124333800	Weak transcription	Colon Smooth Muscle	Colon
32	chr4:124326400-124333600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:124326600-124334000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:124326600-124336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:124326800-124332800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:124326800-124333200	Weak transcription	Fetal Intestine Large	intestine
37	chr4:124326800-124334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:124327000-124332800	Weak transcription	Fetal Lung	lung
39	chr4:124327000-124333200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:124327000-124334400	Weak transcription	HUVEC	blood vessel
41	chr4:124327000-124336800	Weak transcription	HSMM	muscle
42	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
43	chr4:124327800-124333200	Weak transcription	NHLF	lung
44	chr4:124328200-124333000	Weak transcription	Liver	Liver
45	chr4:124328400-124332800	Weak transcription	Fetal Intestine Small	intestine
46	chr4:124328400-124332800	Weak transcription	Left Ventricle	heart
47	chr4:124328400-124335000	Weak transcription	Stomach Mucosa	stomach
48	chr4:124328400-124337400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:124329000-124333000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:124329000-124333200	Weak transcription	Rectal Mucosa Donor 31	rectum

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