Variant report

Variant	nsv1008449
Chromosome Location	chr3:146803-231447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:169328..170327-chr3:184848..185564,2	MCF-7	breast:
2	chr3:217250..219144-chr3:222760..225297,2	MCF-7	breast:
3	chr3:188824..190368-chr3:386265..388997,2	MCF-7	breast:
4	chr3:169328..170327-chr3:184848..185564,2	MCF-7	breast:
5	chr3:217250..219144-chr3:222760..225297,2	MCF-7	breast:
6	chr3:163984..165661-chr3:172610..174560,2	K562	blood:
7	chr3:163984..165661-chr3:172610..174560,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL5RA-17	chr3:147879-148034	l_2301_chr3:147013-148034_heart
2	lnc-IL5RA-17	chr3:147014-147245	l_2301_chr3:147013-148034_heart
3	lnc-IL5RA-16	chr3:153782-154143	NONHSAT087554
4	lnc-IL5RA-16	chr3:153927-154143	NONHSAT087555
5	lnc-IL5RA-16	chr3:157540-157620	NONHSAT087554
6	lnc-IL5RA-16	chr3:172879-173007	NONHSAT087554
7	lnc-IL5RA-16	chr3:157540-157624	NONHSAT087555

No data

Extended variants
information (count: 2251 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2251 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557694524	chr3:146803-146804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573011845	chr3:146817-146818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540026915	chr3:146822-146823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78941062	chr3:146831-146832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534803482	chr3:146847-146848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552852049	chr3:146852-146853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73816934	chr3:146863-146864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541861398	chr3:146886-146887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143887827	chr3:146906-146907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531137995	chr3:146910-146911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552818710	chr3:146953-146954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146868820	chr3:146972-146973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528705651	chr3:147007-147008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546832558	chr3:147008-147009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548800545	chr3:147010-147011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17050287	chr3:147065-147066	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181149042	chr3:147085-147086	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs557040510	chr3:147111-147112	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs140716959	chr3:147113-147114	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs1568091	chr3:147115-147116	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs553799359	chr3:147177-147178	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs558057262	chr3:147179-147180	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs565679556	chr3:147214-147215	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs73096852	chr3:147217-147218	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555133114	chr3:147224-147225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574639896	chr3:147235-147236	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541900087	chr3:147273-147274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186383068	chr3:147288-147289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536309353	chr3:147311-147312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530827448	chr3:147315-147316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545849537	chr3:147319-147320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145373235	chr3:147342-147343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528739263	chr3:147344-147345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115740756	chr3:147345-147346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386657242	chr3:147349-147350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191644203	chr3:147363-147364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550678947	chr3:147364-147365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568946891	chr3:147368-147369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576680293	chr3:147371-147372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149163638	chr3:147373-147374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143303947	chr3:147387-147388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148294736	chr3:147403-147404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555171794	chr3:147419-147420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80021469	chr3:147441-147442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537615151	chr3:147503-147504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183033016	chr3:147510-147511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79368279	chr3:147513-147514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7429216	chr3:147520-147521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73816935	chr3:147536-147537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573524604	chr3:147538-147539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143800-149000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:144800-149000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:145600-147800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:145800-152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:146000-152800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:146200-147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:146200-152200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:146200-152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:146400-148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:146400-149000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:146800-149200	Weak transcription	Brain Germinal Matrix	brain
12	chr3:147600-149600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:148000-150000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:149000-149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:149000-149600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:149000-149600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:149200-149400	Enhancers	Brain Germinal Matrix	brain
18	chr3:149400-149800	Weak transcription	Brain Germinal Matrix	brain
19	chr3:149400-152000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:149600-152200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:149600-152400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:149600-152600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:149800-153400	Enhancers	Brain Germinal Matrix	brain
24	chr3:150000-152200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:151800-152800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:152000-154200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:152200-154000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:152200-154000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:152200-154200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:152200-154200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:152400-153200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:152400-153600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:152400-154000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:152600-153600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:152600-154000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:152800-153400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:152800-153400	Enhancers	Fetal Brain Female	brain
38	chr3:152800-153600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:152800-153600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:152800-153600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:152800-153600	Enhancers	Esophagus	oesophagus
42	chr3:152800-153600	Enhancers	HMEC	breast
43	chr3:152800-153800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:152800-153800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr3:152800-154000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:153000-153600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:154000-156000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:154000-159400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:159400-160200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:159600-160600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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