Variant report

Variant	nsv1011730
Chromosome Location	chr3:24892941-24912030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24897875..24899735-chr3:24905907..24907899,2	K562	blood:
2	chr3:24897875..24899735-chr3:24905907..24907899,2	K562	blood:
3	chr3:24890880..24892601-chr3:24892985..24895206,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RARB-1	chr3:24900165-24900243	ENSG00000237838

Extended variants
information (count: 640 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576914125	chr3:24892959-24892960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73820098	chr3:24892983-24892984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552610285	chr3:24892989-24892990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116238698	chr3:24892990-24892991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116761847	chr3:24893023-24893024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561441780	chr3:24893078-24893079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115439358	chr3:24893096-24893097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543702905	chr3:24893127-24893128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562112356	chr3:24893129-24893130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552799088	chr3:24893136-24893137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2068901	chr3:24893218-24893219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs532554374	chr3:24893219-24893220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570144754	chr3:24893220-24893221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533045109	chr3:24893225-24893226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2068900	chr3:24893301-24893302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559856379	chr3:24893358-24893359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530132708	chr3:24893373-24893374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548586820	chr3:24893374-24893375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535102253	chr3:24893395-24893396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569878374	chr3:24893415-24893416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148182696	chr3:24893450-24893451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184749617	chr3:24893460-24893461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570636547	chr3:24893513-24893514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574747169	chr3:24893590-24893591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368107030	chr3:24893632-24893633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372347402	chr3:24893664-24893665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111551688	chr3:24893682-24893683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574162342	chr3:24893713-24893714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114489622	chr3:24893714-24893715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188767398	chr3:24893718-24893719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576702405	chr3:24893719-24893720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569853706	chr3:24893726-24893727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140212870	chr3:24893735-24893736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181709758	chr3:24893739-24893740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536169832	chr3:24893742-24893743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185438822	chr3:24893763-24893764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374350201	chr3:24893811-24893812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555995303	chr3:24893818-24893819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541604049	chr3:24893826-24893827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575929184	chr3:24893827-24893828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34638098	chr3:24893883-24893884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368783901	chr3:24893907-24893908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559920177	chr3:24893918-24893919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114884495	chr3:24893922-24893923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541903841	chr3:24893986-24893987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191327578	chr3:24894078-24894079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2362761	chr3:24894089-24894090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181473201	chr3:24894096-24894097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530772260	chr3:24894097-24894098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564723394	chr3:24894103-24894104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	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
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24888000-24897800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:24888000-24898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:24892800-24897600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:24894800-24896200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:24895400-24895800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:24895400-24896000	Enhancers	Fetal Kidney	kidney
7	chr3:24897600-24898800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:24897800-24898600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:24897800-24898600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:24897800-24898800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:24898000-24898200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:24898000-24898600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:24898200-24898600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:24898200-24898800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:24898200-24899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:24902600-24905400	Weak transcription	Fetal Lung	lung
17	chr3:24904800-24905000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:24905400-24906200	Enhancers	Fetal Lung	lung
19	chr3:24906600-24908600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:24907800-24908600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:24908000-24908600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr3:24908000-24908600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:24908800-24909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:24909000-24910400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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