Variant report

Variant	esv16289
Chromosome Location	chr17:45129809-45132651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOSR2-2	chr17:45131638-45133274	NONHSAT054261
2	lnc-RPRML-3	chr17:45129892-45131988	NONHSAT054259
3	lnc-GOSR2-2	chr17:45126422-45131777	NONHSAT054246
4	lnc-GOSR2-2	chr17:45131093-45131559	NONHSAT054261
5	lnc-GOSR2-2	chr17:45131884-45134124	NONHSAT054246

Extended variants
information (count: 129 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565641470	chr17:45129824-45129825	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs534582498	chr17:45129831-45129832	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs554281812	chr17:45129843-45129844	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs574407184	chr17:45129862-45129863	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142917038	chr17:45129869-45129870	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs2678708	chr17:45129870-45129871	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576616206	chr17:45129871-45129872	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs545605076	chr17:45129913-45129914	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs373709190	chr17:45129997-45129998	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559376480	chr17:45130026-45130027	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs569923332	chr17:45130027-45130028	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs542174537	chr17:45130031-45130032	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs139152358	chr17:45130044-45130045	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs530964210	chr17:45130058-45130059	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs143201266	chr17:45130096-45130097	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530933937	chr17:45130121-45130122	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs182267049	chr17:45130124-45130125	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs533518090	chr17:45130131-45130132	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs547236442	chr17:45130138-45130139	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs565732378	chr17:45130142-45130143	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs551397222	chr17:45130150-45130151	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs187553328	chr17:45130168-45130169	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534403225	chr17:45130172-45130173	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs118093615	chr17:45130192-45130193	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
25	rs567957594	chr17:45130209-45130210	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs570874581	chr17:45130229-45130230	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs536685968	chr17:45130236-45130237	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs146669427	chr17:45130308-45130309	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs141396287	chr17:45130325-45130326	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
30	rs539220097	chr17:45130329-45130330	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs374355107	chr17:45130365-45130366	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs552909113	chr17:45130398-45130399	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs143900529	chr17:45130428-45130429	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs192542529	chr17:45130478-45130479	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs146834179	chr17:45130480-45130481	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs113053913	chr17:45130495-45130496	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568362807	chr17:45130530-45130531	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs575539510	chr17:45130542-45130543	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs574398740	chr17:45130556-45130557	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs183638353	chr17:45130587-45130588	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs112065238	chr17:45130595-45130596	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs533683064	chr17:45130646-45130647	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs368530011	chr17:45130657-45130658	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113562973	chr17:45130663-45130664	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs547350110	chr17:45130707-45130708	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs560457276	chr17:45130719-45130720	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs529536367	chr17:45130752-45130753	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs547964818	chr17:45130761-45130762	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs564429708	chr17:45130763-45130764	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs377399299	chr17:45130769-45130770	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45075200-45130200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45090000-45131600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:45090200-45131000	Weak transcription	Dnd41	blood
4	chr17:45095000-45130200	Weak transcription	Brain Anterior Caudate	brain
5	chr17:45096200-45131000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:45119400-45130200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr17:45121400-45142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:45123800-45143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:45124000-45131400	Weak transcription	GM12878-XiMat	blood
10	chr17:45124800-45130200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:45124800-45130800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:45125000-45130200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:45125000-45130200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:45125000-45130400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:45125000-45133400	Weak transcription	Fetal Brain Female	brain
16	chr17:45125200-45130800	Weak transcription	Fetal Kidney	kidney
17	chr17:45125200-45132400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:45125200-45143600	Weak transcription	HepG2	liver
19	chr17:45125400-45130200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:45125400-45132400	Weak transcription	Right Ventricle	heart
21	chr17:45125400-45133200	Weak transcription	Gastric	stomach
22	chr17:45125400-45133400	Weak transcription	Pancreas	Pancrea
23	chr17:45125400-45143800	Weak transcription	NHLF	lung
24	chr17:45125600-45130200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:45125600-45130200	Weak transcription	HMEC	breast
26	chr17:45127000-45133400	Weak transcription	Ovary	ovary
27	chr17:45127200-45131400	Weak transcription	HSMM	muscle
28	chr17:45128000-45130200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:45128000-45130200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:45128000-45130200	Weak transcription	Placenta	Placenta
31	chr17:45128200-45130200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:45128200-45130400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:45128200-45130400	Weak transcription	NHDF-Ad	bronchial
34	chr17:45128200-45133200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:45128200-45133400	Weak transcription	Brain Angular Gyrus	brain
36	chr17:45128200-45140000	Weak transcription	K562	blood
37	chr17:45128200-45143600	Weak transcription	HSMMtube	muscle
38	chr17:45128200-45143800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:45128400-45130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr17:45128400-45130200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:45128400-45130200	Weak transcription	Brain Substantia Nigra	brain
42	chr17:45128400-45130200	Weak transcription	Colon Smooth Muscle	Colon
43	chr17:45128400-45131000	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr17:45128400-45131200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr17:45128400-45131400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr17:45128400-45133200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:45128600-45130200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr17:45128600-45130200	Weak transcription	Primary T cells from cord blood	blood
49	chr17:45128600-45130200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:45128600-45130200	Weak transcription	NHEK	skin

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