Variant report

Variant	nsv967244
Chromosome Location	chr3:155376242-155382118
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	chr3:155379377..155381344-chr3:155382651..155384726,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMPS-4	chr3:155375664-155376401	NONHSAT092839

Extended variants
information (count: 177 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs566058818	chr3:155376277-155376278	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189116688	chr3:155376299-155376300	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548693253	chr3:155376324-155376325	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs181105940	chr3:155376349-155376350	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs570084904	chr3:155376367-155376368	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs184264942	chr3:155376410-155376411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540211085	chr3:155376422-155376423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556288332	chr3:155376437-155376438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577795302	chr3:155376438-155376439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6787497	chr3:155376465-155376466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs16825215	chr3:155376544-155376545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571695967	chr3:155376701-155376702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188801715	chr3:155376729-155376730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6441007	chr3:155376765-155376766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560727849	chr3:155376852-155376853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6441008	chr3:155376891-155376892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142621558	chr3:155376902-155376903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9879136	chr3:155376943-155376944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs180773783	chr3:155377067-155377068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13326969	chr3:155377071-155377072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112128178	chr3:155377091-155377092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112258988	chr3:155377110-155377111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13075428	chr3:155377132-155377133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7633226	chr3:155377138-155377139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13316648	chr3:155377174-155377175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373539450	chr3:155377235-155377236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7611587	chr3:155377249-155377250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368718845	chr3:155377293-155377294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548534881	chr3:155377299-155377300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186267317	chr3:155377335-155377336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7611680	chr3:155377358-155377359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552416481	chr3:155377412-155377413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112179748	chr3:155377429-155377430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191928517	chr3:155377433-155377434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538483547	chr3:155377489-155377490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371065534	chr3:155377518-155377519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146130342	chr3:155377539-155377540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376441840	chr3:155377554-155377555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147780829	chr3:155377560-155377561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544540314	chr3:155377579-155377580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575991067	chr3:155377588-155377589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543483648	chr3:155377602-155377603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558415171	chr3:155377656-155377657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35123304	chr3:155377714-155377715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541598260	chr3:155377715-155377716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2049049	chr3:155377735-155377736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182425732	chr3:155377758-155377759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560009773	chr3:155377776-155377777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185677517	chr3:155377862-155377863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542192506	chr3:155377869-155377870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	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
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155357400-155379000	Weak transcription	Gastric	stomach
2	chr3:155366600-155379000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:155366600-155379000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:155367400-155376800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:155375000-155378600	Weak transcription	A549	lung
6	chr3:155375400-155379000	Weak transcription	Thymus	Thymus
7	chr3:155376000-155376400	Enhancers	Fetal Intestine Small	intestine
8	chr3:155376200-155378600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:155376200-155379000	Weak transcription	Fetal Thymus	thymus
10	chr3:155376400-155376800	Weak transcription	Fetal Intestine Small	intestine
11	chr3:155376800-155377000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:155376800-155377000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:155376800-155377000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:155376800-155377000	Enhancers	Duodenum Mucosa	Duodenum
15	chr3:155376800-155377000	Enhancers	Fetal Intestine Small	intestine
16	chr3:155376800-155377000	Enhancers	Pancreas	Pancrea
17	chr3:155377000-155377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:155377000-155377800	Weak transcription	Stomach Mucosa	stomach
19	chr3:155377000-155378800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:155377000-155378800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:155377000-155378800	Weak transcription	Fetal Intestine Small	intestine
22	chr3:155377200-155379000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:155377200-155379000	Weak transcription	Pancreas	Pancrea
24	chr3:155377800-155378000	Enhancers	Stomach Mucosa	stomach
25	chr3:155378000-155378800	Weak transcription	Stomach Mucosa	stomach
26	chr3:155378200-155380200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:155378400-155379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:155378400-155379400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:155378600-155381200	Enhancers	A549	lung
30	chr3:155378800-155379400	Enhancers	Stomach Mucosa	stomach
31	chr3:155378800-155379800	Enhancers	Duodenum Mucosa	Duodenum
32	chr3:155378800-155380000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:155378800-155380200	Enhancers	Fetal Intestine Small	intestine
34	chr3:155378800-155380200	Enhancers	HepG2	liver
35	chr3:155378800-155385400	Enhancers	Fetal Intestine Large	intestine
36	chr3:155379000-155379400	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:155379000-155379400	Enhancers	Fetal Lung	lung
38	chr3:155379000-155379400	Enhancers	Gastric	stomach
39	chr3:155379000-155379400	Enhancers	Pancreas	Pancrea
40	chr3:155379000-155379800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:155379000-155380000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:155379000-155380000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr3:155379000-155380000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:155379000-155380000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:155379000-155380000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:155379000-155380000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr3:155379000-155380000	Enhancers	Fetal Thymus	thymus
48	chr3:155379000-155380000	Enhancers	Thymus	Thymus
49	chr3:155379000-155380200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:155379000-155382000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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