Variant report

Variant	nsv819982
Chromosome Location	chr4:48173420-48178259
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48177121..48180289-chr4:48181668..48184747,3	MCF-7	breast:
2	chr4:48175041..48176757-chr4:48255815..48257585,2	K562	blood:
3	chr4:48173412..48176298-chr4:48428298..48430775,2	K562	blood:
4	chr4:48173393..48175271-chr4:48298166..48300256,2	K562	blood:
5	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:
6	chr4:48175434..48177430-chr4:48270272..48272228,2	K562	blood:
7	chr4:48174022..48176386-chr4:48181420..48183923,2	K562	blood:
8	chr4:48168015..48170294-chr4:48173927..48176191,2	K562	blood:
9	chr4:48175263..48177129-chr4:48197621..48199593,2	K562	blood:
10	chr4:48171039..48173617-chr4:48175205..48177661,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135605	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146497112	chr4:48173440-48173441	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75574368	chr4:48173453-48173454	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376894272	chr4:48173473-48173474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373167165	chr4:48173490-48173491	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77019888	chr4:48173500-48173501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76825940	chr4:48173503-48173504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78152072	chr4:48173504-48173505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74856610	chr4:48173505-48173506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552642185	chr4:48173527-48173528	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570525600	chr4:48173534-48173535	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7669393	chr4:48173547-48173548	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377095072	chr4:48173557-48173558	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146127075	chr4:48173567-48173568	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116421681	chr4:48173580-48173581	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192380562	chr4:48173689-48173690	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560137024	chr4:48173692-48173693	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553844324	chr4:48173766-48173767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529642289	chr4:48173774-48173775	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73244493	chr4:48173794-48173795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572080544	chr4:48173863-48173864	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4695339	chr4:48173880-48173881	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557858137	chr4:48173881-48173882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75570340	chr4:48173887-48173888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544827600	chr4:48173933-48173934	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4695340	chr4:48173947-48173948	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs77633024	chr4:48173966-48173967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542124829	chr4:48173976-48173977	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543034883	chr4:48173979-48173980	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140113871	chr4:48173985-48173986	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80067357	chr4:48173989-48173990	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555369021	chr4:48174079-48174080	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184716200	chr4:48174091-48174092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4695341	chr4:48174141-48174142	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs4695342	chr4:48174161-48174162	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4695343	chr4:48174173-48174174	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376091371	chr4:48174187-48174188	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12651371	chr4:48174235-48174236	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4695344	chr4:48174251-48174252	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs34546932	chr4:48174269-48174270	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55859400	chr4:48174284-48174285	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397788892	chr4:48174287-48174288	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398092355	chr4:48174288-48174289	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567690047	chr4:48174318-48174319	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565652962	chr4:48174336-48174337	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372443186	chr4:48174348-48174349	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116555889	chr4:48174396-48174397	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531064544	chr4:48174447-48174448	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71654897	chr4:48174452-48174453	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2661542	chr4:48174470-48174471	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62309327	chr4:48174474-48174475	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
3	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
5	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
6	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
8	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
13	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:48164800-48174400	Weak transcription	HSMM	muscle
16	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
17	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
20	chr4:48167000-48175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:48167200-48175400	Weak transcription	Placenta	Placenta
22	chr4:48169000-48180600	Weak transcription	Esophagus	oesophagus
23	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:48170000-48175200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:48170600-48174400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:48170600-48176800	Weak transcription	Liver	Liver
27	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:48171200-48174400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:48171200-48181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:48171400-48175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:48171600-48174600	Weak transcription	K562	blood
32	chr4:48172000-48175400	Genic enhancers	GM12878-XiMat	blood
33	chr4:48172200-48175600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:48172200-48176600	Weak transcription	Fetal Heart	heart
35	chr4:48172400-48174800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:48172400-48177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:48172600-48177400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:48172800-48174600	Weak transcription	Primary B cells from cord blood	blood
39	chr4:48173400-48175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:48173400-48177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:48173800-48188400	Weak transcription	Lung	lung
42	chr4:48174400-48175000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr4:48174400-48175200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:48174400-48176600	Enhancers	HSMM	muscle
45	chr4:48174400-48178000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:48174600-48175200	Enhancers	HSMMtube	muscle
47	chr4:48174600-48175200	Enhancers	K562	blood
48	chr4:48174600-48175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:48174600-48175800	Enhancers	Stomach Mucosa	stomach
50	chr4:48174600-48176000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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