Variant report

Variant	nsv1014395
Chromosome Location	chr3:144268563-144283849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 544 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16855618	chr3:144268563-144268564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537980457	chr3:144268564-144268565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555994747	chr3:144268582-144268583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113786367	chr3:144268594-144268595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574328983	chr3:144268617-144268618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187495491	chr3:144268626-144268627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553998687	chr3:144268680-144268681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116767920	chr3:144268701-144268702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545570173	chr3:144268731-144268732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374280011	chr3:144268771-144268772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563984106	chr3:144268795-144268796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12631899	chr3:144268855-144268856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372743289	chr3:144268908-144268909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71307980	chr3:144268940-144268941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191509011	chr3:144268953-144268954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562841122	chr3:144268969-144268970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530074023	chr3:144268988-144268989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146001016	chr3:144269045-144269046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139903954	chr3:144269076-144269077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546267914	chr3:144269150-144269151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373736268	chr3:144269168-144269169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143501221	chr3:144269206-144269207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552796966	chr3:144269231-144269232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2575187	chr3:144269269-144269270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562069475	chr3:144269283-144269284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146283785	chr3:144269291-144269292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184887770	chr3:144269293-144269294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568077357	chr3:144269297-144269298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139189272	chr3:144269300-144269301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11914724	chr3:144269301-144269302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562170658	chr3:144269307-144269308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572004575	chr3:144269343-144269344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539386934	chr3:144269364-144269365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192743998	chr3:144269418-144269419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16855622	chr3:144269422-144269423	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75992402	chr3:144269450-144269451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548029007	chr3:144269460-144269461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543270285	chr3:144269466-144269467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562987409	chr3:144269472-144269473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574865875	chr3:144269499-144269500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559569454	chr3:144269503-144269504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542205256	chr3:144269506-144269507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560148043	chr3:144269527-144269528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184487151	chr3:144269528-144269529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2694958	chr3:144269597-144269598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74961006	chr3:144269629-144269630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564791605	chr3:144269635-144269636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531907034	chr3:144269636-144269637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550141121	chr3:144269647-144269648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568125150	chr3:144269667-144269668	Weak transcription	n/a	n/a	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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144266400-144268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:144266400-144269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:144266600-144269000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:144266600-144269400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:144266600-144271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:144266800-144268800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:144267000-144269000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:144267200-144268600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr3:144267200-144268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:144267200-144269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:144267400-144268800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:144267800-144268800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:144268200-144269200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:144268400-144269000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:144268400-144269000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:144268400-144272400	Weak transcription	Fetal Lung	lung
17	chr3:144268800-144269200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:144268800-144271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:144268800-144272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:144268800-144272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:144269000-144270800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:144269000-144271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:144269000-144271800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:144269000-144274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:144269200-144272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:144269200-144272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:144269400-144272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:144270800-144273000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:144271000-144271200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:144271000-144272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:144271200-144271800	Enhancers	Fetal Intestine Small	intestine
32	chr3:144271400-144272400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:144271800-144272800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr3:144271800-144272800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:144271800-144273000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:144271800-144275200	Weak transcription	Fetal Intestine Small	intestine
37	chr3:144272000-144272800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:144272000-144272800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:144272000-144273000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:144272200-144273000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:144272200-144273200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:144272400-144272600	Enhancers	Fetal Lung	lung
43	chr3:144272400-144272800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:144272400-144273000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr3:144272800-144274000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:144274000-144274200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:144274000-144277000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:144274200-144274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:144274800-144275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:144275000-144275400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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