Variant report

Variant	nsv522327
Chromosome Location	chr3:179417976-179420666
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	chr3:179409591..179411693-chr3:179419157..179421200,3	K562	blood:
2	chr3:179412916..179414518-chr3:179418011..179420570,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4854948	chr3:179417976-179417977	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188105852	chr3:179418039-179418040	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199757373	chr3:179418059-179418060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562010285	chr3:179418065-179418066	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527901126	chr3:179418105-179418106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557401822	chr3:179418154-179418155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114928139	chr3:179418163-179418164	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549188822	chr3:179418169-179418170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6785332	chr3:179418217-179418218	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564432975	chr3:179418355-179418356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374101352	chr3:179418364-179418365	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376397556	chr3:179418376-179418377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528576576	chr3:179418377-179418378	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182022465	chr3:179418399-179418400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374330907	chr3:179418444-179418445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544919852	chr3:179418445-179418446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114065489	chr3:179418456-179418457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530722829	chr3:179418457-179418458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201327529	chr3:179418477-179418478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550423733	chr3:179418489-179418490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566941862	chr3:179418518-179418519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529671574	chr3:179418526-179418527	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34548582	chr3:179418564-179418565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115407660	chr3:179418575-179418576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145130887	chr3:179418651-179418652	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569028851	chr3:179418687-179418688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148662430	chr3:179418700-179418701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143321271	chr3:179418764-179418765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375786336	chr3:179418798-179418799	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149046448	chr3:179418811-179418812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144680708	chr3:179418823-179418824	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370081055	chr3:179418851-179418852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558073198	chr3:179418877-179418878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373616106	chr3:179418933-179418934	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368884896	chr3:179418940-179418941	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370980401	chr3:179418950-179418951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571772695	chr3:179418977-179418978	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113745652	chr3:179418984-179418985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557659108	chr3:179419015-179419016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142192254	chr3:179419025-179419026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543084567	chr3:179419070-179419071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570185919	chr3:179419083-179419084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553327333	chr3:179419102-179419103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9833074	chr3:179419175-179419176	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73054616	chr3:179419223-179419224	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185494023	chr3:179419226-179419227	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190057855	chr3:179419262-179419263	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543978765	chr3:179419337-179419338	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181704198	chr3:179419343-179419344	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529931914	chr3:179419360-179419361	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179372600-179425200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:179380600-179418800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:179384800-179425000	Weak transcription	Brain Anterior Caudate	brain
4	chr3:179384800-179428400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:179384800-179443800	Weak transcription	Esophagus	oesophagus
6	chr3:179385000-179439200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:179385000-179448400	Weak transcription	Fetal Brain Male	brain
8	chr3:179385400-179419000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:179391000-179444000	Weak transcription	Pancreas	Pancrea
10	chr3:179391000-179452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:179391400-179426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:179391400-179439200	Weak transcription	NHEK	skin
13	chr3:179391600-179424000	Weak transcription	Hela-S3	cervix
14	chr3:179392600-179425000	Weak transcription	Aorta	Aorta
15	chr3:179394400-179419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:179397000-179419200	Weak transcription	Liver	Liver
17	chr3:179397200-179423800	Weak transcription	HSMMtube	muscle
18	chr3:179397800-179439200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr3:179398600-179421800	Weak transcription	Brain Substantia Nigra	brain
20	chr3:179399000-179426400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:179399000-179434000	Weak transcription	A549	lung
22	chr3:179399000-179459800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:179399200-179425000	Weak transcription	Brain Germinal Matrix	brain
24	chr3:179399600-179425000	Weak transcription	Lung	lung
25	chr3:179400000-179421600	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:179400000-179424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:179400800-179426800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:179401400-179424200	Weak transcription	Right Ventricle	heart
29	chr3:179402200-179425000	Weak transcription	Thymus	Thymus
30	chr3:179402200-179425200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:179402600-179425000	Weak transcription	Fetal Intestine Large	intestine
32	chr3:179402600-179428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:179402800-179421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:179404000-179421400	Weak transcription	Primary B cells from cord blood	blood
35	chr3:179404000-179424000	Weak transcription	HepG2	liver
36	chr3:179404200-179422600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:179404200-179425000	Weak transcription	Placenta	Placenta
38	chr3:179404400-179426600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:179404800-179426600	Weak transcription	GM12878-XiMat	blood
40	chr3:179405600-179419000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:179405800-179429200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:179406000-179425000	Weak transcription	Fetal Brain Female	brain
43	chr3:179406200-179419200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:179406200-179503000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:179406400-179418400	Weak transcription	Dnd41	blood
46	chr3:179406600-179449400	Weak transcription	Spleen	Spleen
47	chr3:179407000-179423800	Weak transcription	NHDF-Ad	bronchial
48	chr3:179407000-179426400	Weak transcription	NHLF	lung
49	chr3:179407000-179426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:179407000-179428400	Weak transcription	Osteobl	bone

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