Variant report

Variant	nsv970712
Chromosome Location	chr6:167813575-167818452
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	chr6:167813417..167815135-chr6:167817698..167819518,2	K562	blood:
2	chr6:167813417..167815135-chr6:167817698..167819518,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP10-2	chr6:167810373-167814438	ucscGeneNc_uc003qvx_1

Extended variants
information (count: 267 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543875911	chr6:167813575-167813576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs143488111	chr6:167813602-167813603	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs146755695	chr6:167813626-167813627	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529027913	chr6:167813761-167813762	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550303920	chr6:167813790-167813791	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs562458478	chr6:167813802-167813803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562247007	chr6:167813813-167813814	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532968279	chr6:167813821-167813822	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs543612025	chr6:167813829-167813830	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs6905928	chr6:167813830-167813831	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78988207	chr6:167813853-167813854	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs6906071	chr6:167813894-167813895	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191048403	chr6:167813897-167813898	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567642352	chr6:167813921-167813922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs386708605	chr6:167813955-167813956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs183228273	chr6:167813956-167813957	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552940368	chr6:167813959-167813960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538672485	chr6:167813997-167813998	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs4504455	chr6:167814089-167814090	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs142609490	chr6:167814134-167814135	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs199747684	chr6:167814136-167814137	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561964644	chr6:167814144-167814145	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs6926672	chr6:167814161-167814162	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544255536	chr6:167814172-167814173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs550254897	chr6:167814183-167814184	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs34685972	chr6:167814204-167814205	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs140789888	chr6:167814219-167814220	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs185979687	chr6:167814226-167814227	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs145910660	chr6:167814247-167814248	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs560751904	chr6:167814258-167814259	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs535988542	chr6:167814301-167814302	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs528032474	chr6:167814307-167814308	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs149684343	chr6:167814314-167814315	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs567797741	chr6:167814320-167814321	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs375190936	chr6:167814345-167814346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs74935738	chr6:167814352-167814353	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs538062709	chr6:167814376-167814377	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs369820670	chr6:167814392-167814393	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs550211714	chr6:167814411-167814412	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs60851174	chr6:167814422-167814423	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538633849	chr6:167814434-167814435	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553793938	chr6:167814440-167814441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71571500	chr6:167814450-167814451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377675236	chr6:167814482-167814483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4708776	chr6:167814488-167814489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs534047445	chr6:167814489-167814490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139259112	chr6:167814498-167814499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190443131	chr6:167814545-167814546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566692109	chr6:167814567-167814568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544097259	chr6:167814592-167814593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167807600-167814400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167810400-167814800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:167812800-167814200	Weak transcription	Fetal Intestine Large	intestine
4	chr6:167812800-167814600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:167812800-167815200	Weak transcription	Spleen	Spleen
6	chr6:167813600-167815400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:167814200-167815200	Enhancers	HepG2	liver
8	chr6:167814200-167816000	Enhancers	Fetal Intestine Large	intestine
9	chr6:167814400-167814600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:167814600-167815000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:167814600-167815800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:167814600-167816000	Enhancers	Fetal Intestine Small	intestine
13	chr6:167814800-167815800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:167815000-167815600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr6:167815000-167816000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:167815000-167817400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:167815200-167815400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:167815200-167815400	Enhancers	Spleen	Spleen
19	chr6:167815200-167815400	Flanking Active TSS	HepG2	liver
20	chr6:167815200-167815600	Enhancers	Colonic Mucosa	Colon
21	chr6:167815200-167815800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:167815200-167816000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:167815200-167816000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr6:167815400-167816000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:167815400-167816200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:167815400-167820800	Bivalent Enhancer	HepG2	liver
27	chr6:167815600-167816000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:167815600-167816000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr6:167815800-167816200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:167815800-167820200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:167816000-167820400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:167816000-167820800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:167816200-167817400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:167817400-167817800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:167817800-167821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:167818000-167818400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:167818400-167818600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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