Variant report

Variant	nsv820308
Chromosome Location	chr4:48165642-48166304
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	chr4:48164755..48167571-chr4:48169298..48171997,3	MCF-7	breast:
2	chr4:48159219..48161571-chr4:48166028..48167531,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200060189	chr4:48165710-48165711	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142459783	chr4:48165724-48165725	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191626703	chr4:48165752-48165753	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs16861083	chr4:48165757-48165758	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377589211	chr4:48165803-48165804	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183880320	chr4:48165816-48165817	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556407049	chr4:48165819-48165820	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386674298	chr4:48165834-48165835	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202222241	chr4:48165835-48165836	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs66919045	chr4:48165836-48165837	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10632072	chr4:48165849-48165850	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139950746	chr4:48165889-48165890	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10541518	chr4:48165890-48165891	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397750038	chr4:48165893-48165894	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541804778	chr4:48165925-48165926	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76771743	chr4:48165940-48165941	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2704398	chr4:48165989-48165990	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572082189	chr4:48166002-48166003	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545868434	chr4:48166031-48166032	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7678246	chr4:48166045-48166046	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532707418	chr4:48166061-48166062	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550930539	chr4:48166068-48166069	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563175850	chr4:48166160-48166161	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12649067	chr4:48166213-48166214	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112212410	chr4:48166241-48166242	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150893550	chr4:48166299-48166300	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550347259	chr4:48166300-48166301	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533950240	chr4:48166302-48166303	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48156000-48168000	Weak transcription	Esophagus	oesophagus
2	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
4	chr4:48158400-48168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:48158400-48168000	Weak transcription	Gastric	stomach
6	chr4:48158400-48169600	Weak transcription	K562	blood
7	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
9	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
10	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
11	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
12	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
15	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
16	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
18	chr4:48158600-48167600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
21	chr4:48158800-48167800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48158800-48168000	Weak transcription	Fetal Intestine Large	intestine
23	chr4:48158800-48168800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
28	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:48159600-48166000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr4:48159600-48167600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:48159600-48169800	Strong transcription	GM12878-XiMat	blood
32	chr4:48159800-48169600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:48160400-48168000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:48160400-48168800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:48164200-48171200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:48164600-48165800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:48164600-48166600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:48164800-48174400	Weak transcription	HSMM	muscle
40	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
41	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:48165000-48165800	Weak transcription	Osteobl	bone
43	chr4:48165000-48170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:48165000-48171400	Weak transcription	Fetal Heart	heart
45	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:48165600-48165800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:48165600-48165800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:48165600-48166200	Active TSS	Liver	Liver
49	chr4:48165800-48166000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:48165800-48166000	Enhancers	Osteobl	bone

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