Variant report

Variant	nsv966963
Chromosome Location	chr3:158466917-158469526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158439507..158442032-chr3:158469243..158472227,2	K562	blood:
2	chr3:158460949..158465729-chr3:158466898..158470534,5	K562	blood:
3	chr3:158465698..158468442-chr3:158472152..158473893,2	MCF-7	breast:
4	chr3:158287892..158289839-chr3:158465574..158467235,2	K562	blood:
5	chr3:158461736..158463794-chr3:158468012..158469829,2	K562	blood:

Variant related genes	Relation type
ENSG00000178053	chromatin interactions
ENSG00000243150	chromatin interactions
ENSG00000118855	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369364688	chr3:158466935-158466936	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs528578951	chr3:158466943-158466944	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs547041626	chr3:158466975-158466976	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs546453183	chr3:158467010-158467011	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs540567951	chr3:158467014-158467015	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs114121431	chr3:158467031-158467032	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs188040010	chr3:158467032-158467033	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572264369	chr3:158467091-158467092	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs535439714	chr3:158467095-158467096	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373078073	chr3:158467187-158467188	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs531933884	chr3:158467188-158467189	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs550888196	chr3:158467194-158467195	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs534613857	chr3:158467202-158467203	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569207582	chr3:158467272-158467273	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375193943	chr3:158467293-158467294	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544040182	chr3:158467323-158467324	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142531304	chr3:158467354-158467355	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573342431	chr3:158467358-158467359	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533673343	chr3:158467376-158467377	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111679132	chr3:158467397-158467398	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191279276	chr3:158467406-158467407	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544206291	chr3:158467407-158467408	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562811085	chr3:158467408-158467409	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184728215	chr3:158467454-158467455	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139244076	chr3:158467480-158467481	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560110636	chr3:158467541-158467542	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529020481	chr3:158467587-158467588	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547045585	chr3:158467606-158467607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189175745	chr3:158467611-158467612	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546810262	chr3:158467733-158467734	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141451799	chr3:158467816-158467817	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113715760	chr3:158467842-158467843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181594556	chr3:158467844-158467845	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551652654	chr3:158467854-158467855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539750420	chr3:158467885-158467886	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150432923	chr3:158467902-158467903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377612426	chr3:158467928-158467929	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534389992	chr3:158467949-158467950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73158329	chr3:158467950-158467951	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113243687	chr3:158467983-158467984	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75615475	chr3:158468005-158468006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138134879	chr3:158468054-158468055	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374123021	chr3:158468102-158468103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200222937	chr3:158468111-158468112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149569662	chr3:158468184-158468185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544988872	chr3:158468228-158468229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372716246	chr3:158468230-158468231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536801293	chr3:158468259-158468260	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560377361	chr3:158468289-158468290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs55816047	chr3:158468293-158468294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158449800-158483000	Weak transcription	Fetal Heart	heart
2	chr3:158450800-158468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:158450800-158485400	Weak transcription	Psoas Muscle	Psoas
4	chr3:158451000-158484200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:158451000-158485800	Weak transcription	Fetal Kidney	kidney
6	chr3:158453400-158467400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:158453400-158467600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:158453600-158486400	Weak transcription	Esophagus	oesophagus
9	chr3:158457200-158468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:158457400-158486000	Weak transcription	Right Ventricle	heart
11	chr3:158457800-158486200	Weak transcription	Pancreas	Pancrea
12	chr3:158458000-158471200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:158459600-158468400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr3:158460000-158468600	Strong transcription	Fetal Intestine Large	intestine
15	chr3:158460400-158486000	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:158460800-158469400	Weak transcription	Ovary	ovary
17	chr3:158461600-158468400	Strong transcription	Fetal Intestine Small	intestine
18	chr3:158461600-158468600	Strong transcription	Fetal Stomach	stomach
19	chr3:158462600-158468000	Genic enhancers	K562	blood
20	chr3:158462800-158471200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:158463400-158467600	Weak transcription	Dnd41	blood
22	chr3:158463600-158468000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:158463800-158467600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:158464400-158467000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:158464400-158467000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:158464400-158467000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:158464400-158472600	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:158464800-158467400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:158464800-158467800	Strong transcription	Hela-S3	cervix
30	chr3:158465000-158468200	Strong transcription	Primary T cells from cord blood	blood
31	chr3:158465200-158467800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:158465400-158467000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:158465400-158467800	Weak transcription	Thymus	Thymus
34	chr3:158465400-158469200	Weak transcription	NH-A	brain
35	chr3:158465400-158469800	Weak transcription	HSMMtube	muscle
36	chr3:158465400-158480000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:158465600-158467200	Weak transcription	Liver	Liver
38	chr3:158465800-158480200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:158466000-158467000	Strong transcription	Brain Germinal Matrix	brain
40	chr3:158466000-158467200	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr3:158466000-158472800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:158466000-158486000	Weak transcription	Aorta	Aorta
43	chr3:158466000-158486200	Weak transcription	Gastric	stomach
44	chr3:158466200-158482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:158466200-158486200	Weak transcription	Brain Angular Gyrus	brain
46	chr3:158466200-158486200	Weak transcription	Fetal Brain Male	brain
47	chr3:158466400-158468200	Weak transcription	Brain Anterior Caudate	brain
48	chr3:158466600-158469000	Strong transcription	Fetal Lung	lung
49	chr3:158466600-158469400	Strong transcription	Osteobl	bone
50	chr3:158466600-158469600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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