Variant report

Variant	nsv819800
Chromosome Location	chr3:178921571-178922335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178865100..178867630-chr3:178921872..178925209,3	K562	blood:
2	chr3:178865505..178867284-chr3:178921537..178924390,2	MCF-7	breast:
3	chr3:178916179..178918433-chr3:178920259..178922667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121879	chromatin interactions
ENSG00000229102	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1131681	chr3:178921574-178921575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199552207	chr3:178921585-178921586	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200627037	chr3:178921589-178921590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201940827	chr3:178921596-178921597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200037333	chr3:178921618-178921619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200974059	chr3:178921624-178921625	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372932652	chr3:178921625-178921626	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527614998	chr3:178921628-178921629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2699895	chr3:178921639-178921640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545221404	chr3:178921695-178921696	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147229296	chr3:178921704-178921705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs9833206	chr3:178921747-178921748	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543853674	chr3:178921826-178921827	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140501787	chr3:178921838-178921839	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375778844	chr3:178921906-178921907	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181872738	chr3:178921961-178921962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186945329	chr3:178921987-178921988	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559849740	chr3:178921989-178921990	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528640832	chr3:178922018-178922019	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551999822	chr3:178922049-178922050	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs534991317	chr3:178922052-178922053	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565430909	chr3:178922098-178922099	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531246526	chr3:178922153-178922154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550655821	chr3:178922205-178922206	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369949302	chr3:178922206-178922207	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567687877	chr3:178922216-178922217	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs3729676	chr3:178922222-178922223	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs537013051	chr3:178922226-178922227	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375621437	chr3:178922247-178922248	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs547097563	chr3:178922262-178922263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201374205	chr3:178922264-178922265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs3729677	chr3:178922273-178922274	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2699896	chr3:178922274-178922275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs376542128	chr3:178922278-178922279	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs1131682	chr3:178922293-178922294	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs202162121	chr3:178922335-178922336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	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
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178899200-178951800	Weak transcription	K562	blood
2	chr3:178900000-178929800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:178906400-178962400	Weak transcription	HepG2	liver
4	chr3:178908000-178923600	Weak transcription	Fetal Brain Female	brain
5	chr3:178908800-178922800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:178909000-178931400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:178909000-178947000	Weak transcription	Ovary	ovary
8	chr3:178909400-178925400	Weak transcription	Aorta	Aorta
9	chr3:178911200-178953400	Weak transcription	Gastric	stomach
10	chr3:178912400-178924000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
12	chr3:178912600-178947800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:178913000-178925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:178913000-178925400	Weak transcription	Pancreas	Pancrea
15	chr3:178913000-178930800	Weak transcription	Left Ventricle	heart
16	chr3:178913000-178948200	Weak transcription	Psoas Muscle	Psoas
17	chr3:178913200-178945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:178913200-178947000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:178913200-178947000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:178913800-178954000	Weak transcription	Fetal Heart	heart
21	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
22	chr3:178914000-178928200	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:178914200-178928000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:178914200-178928000	Weak transcription	Brain Substantia Nigra	brain
25	chr3:178914200-178928200	Weak transcription	Brain Anterior Caudate	brain
26	chr3:178914600-178945200	Weak transcription	HMEC	breast
27	chr3:178914800-178921800	Weak transcription	Fetal Brain Male	brain
28	chr3:178914800-178922000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:178914800-178926400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:178914800-178927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:178914800-178927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:178914800-178928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:178914800-178928000	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:178914800-178928000	Weak transcription	Osteobl	bone
35	chr3:178914800-178928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:178914800-178933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:178914800-178941400	Weak transcription	GM12878-XiMat	blood
38	chr3:178914800-178942800	Weak transcription	NH-A	brain
39	chr3:178914800-178948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:178915400-178923400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:178915400-178929400	Weak transcription	HSMMtube	muscle
43	chr3:178915400-178931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:178915400-178946000	Weak transcription	Stomach Mucosa	stomach
45	chr3:178915400-178947000	Weak transcription	NHDF-Ad	bronchial
46	chr3:178915600-178921800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:178915600-178947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
49	chr3:178916600-178924000	Strong transcription	Dnd41	blood
50	chr3:178916600-178925800	Strong transcription	Monocytes-CD14+_RO01746	blood

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