Variant report

Variant	nsv967775
Chromosome Location	chr4:100821049-100822139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100819394..100821526-chr4:100823145..100825504,2	K562	blood:
2	chr4:100819072..100821321-chr4:100870712..100873019,2	MCF-7	breast:
3	chr4:100820568..100823308-chr4:100824900..100827243,2	K562	blood:
4	chr4:100815138..100817913-chr4:100819745..100821681,2	K562	blood:
5	chr4:100814584..100817913-chr4:100818324..100821681,5	K562	blood:
6	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
7	chr4:100815631..100818960-chr4:100821744..100826195,4	K562	blood:
8	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
9	chr4:100815313..100817672-chr4:100818504..100822549,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164031	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000109270	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140678806	chr4:100821089-100821090	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs569607702	chr4:100821095-100821096	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs190852455	chr4:100821178-100821179	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs182992083	chr4:100821243-100821244	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556227099	chr4:100821276-100821277	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs537049917	chr4:100821291-100821292	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376663041	chr4:100821313-100821314	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs542553740	chr4:100821330-100821331	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs560611406	chr4:100821346-100821347	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs572658252	chr4:100821355-100821356	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs545990192	chr4:100821389-100821390	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs564311363	chr4:100821417-100821418	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs531706678	chr4:100821418-100821419	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558236840	chr4:100821425-100821426	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs55943142	chr4:100821454-100821455	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs187530923	chr4:100821466-100821467	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs115432576	chr4:100821487-100821488	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs529269218	chr4:100821535-100821536	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs548505343	chr4:100821661-100821662	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs566665778	chr4:100821673-100821674	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs28714567	chr4:100821675-100821676	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs569584338	chr4:100821788-100821789	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs534049565	chr4:100821832-100821833	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs552424412	chr4:100821872-100821873	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs190297884	chr4:100821879-100821880	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs535317313	chr4:100821976-100821977	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs182499811	chr4:100821986-100821987	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs187369334	chr4:100822002-100822003	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs538149815	chr4:100822090-100822091	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100815600-100840000	Weak transcription	Small Intestine	intestine
2	chr4:100816000-100823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:100816000-100829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:100816000-100839800	Weak transcription	Esophagus	oesophagus
5	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:100816000-100867000	Weak transcription	Lung	lung
7	chr4:100816200-100821200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:100816200-100821600	Weak transcription	NHDF-Ad	bronchial
9	chr4:100816200-100822000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:100816200-100822000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:100816200-100822000	Weak transcription	Liver	Liver
12	chr4:100816200-100822000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:100816200-100822000	Weak transcription	NH-A	brain
14	chr4:100816200-100822000	Weak transcription	Osteobl	bone
15	chr4:100816200-100822400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:100816200-100822800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:100816200-100822800	Weak transcription	Fetal Kidney	kidney
18	chr4:100816200-100823000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:100816200-100823000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:100816200-100823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:100816200-100823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:100816200-100823200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:100816200-100823200	Weak transcription	Ovary	ovary
24	chr4:100816200-100823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:100816200-100823400	Weak transcription	Brain Anterior Caudate	brain
26	chr4:100816200-100823400	Weak transcription	HSMMtube	muscle
27	chr4:100816200-100823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:100816200-100823800	Weak transcription	Brain Angular Gyrus	brain
29	chr4:100816200-100827000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:100816200-100827200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:100816200-100827400	Weak transcription	K562	blood
32	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
34	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
36	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
37	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
38	chr4:100816200-100851400	Weak transcription	A549	lung
39	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:100816200-100853600	Weak transcription	NHLF	lung
41	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:100816400-100821600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:100816400-100821600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:100816400-100821800	Weak transcription	Placenta	Placenta
45	chr4:100816400-100822000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:100816400-100822000	Weak transcription	Fetal Thymus	thymus
47	chr4:100816400-100822200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:100816400-100822200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:100816400-100822400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:100816400-100822800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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