Variant report

Variant	esv9922
Chromosome Location	chr11:8199940-8201700
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	chr11:8191876..8193485-chr11:8198068..8201621,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUB-1	chr11:8201638-8201790	NONHSAT017844
2	lnc-TUB-1	chr11:8196844-8200450	ENSG00000246820
3	lnc-TUB-1	chr11:8196844-8200450	NONHSAT017845

Variant related genes	Relation type
TXNL1	miRNA target sites

Extended variants
information (count: 100 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570719350	chr11:8199966-8199967	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577351473	chr11:8199971-8199972	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539697476	chr11:8199990-8199991	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs60817303	chr11:8199993-8199994	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs55850038	chr11:8199997-8199998	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs572674249	chr11:8200017-8200018	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs1528123	chr11:8200018-8200019	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143597252	chr11:8200019-8200020	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs138075759	chr11:8200020-8200021	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369699964	chr11:8200024-8200025	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs557074096	chr11:8200039-8200040	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs566668559	chr11:8200049-8200050	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs577157720	chr11:8200054-8200055	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs78084342	chr11:8200083-8200084	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553338782	chr11:8200106-8200107	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547833549	chr11:8200128-8200129	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1528124	chr11:8200190-8200191	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541782112	chr11:8200191-8200192	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561547465	chr11:8200197-8200198	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs188377137	chr11:8200208-8200209	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs5789564	chr11:8200209-8200210	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs397823986	chr11:8200212-8200213	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs1528125	chr11:8200216-8200217	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372530645	chr11:8200226-8200227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs564336210	chr11:8200243-8200244	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs533389680	chr11:8200247-8200248	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs546871963	chr11:8200264-8200265	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs113043558	chr11:8200266-8200267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs142536012	chr11:8200267-8200268	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs180891194	chr11:8200272-8200273	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs117627469	chr11:8200316-8200317	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs538335984	chr11:8200325-8200326	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs370510836	chr11:8200358-8200359	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs11041785	chr11:8200363-8200364	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570648007	chr11:8200364-8200365	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs184960656	chr11:8200371-8200372	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539672275	chr11:8200394-8200395	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs373931018	chr11:8200402-8200403	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs553226478	chr11:8200442-8200443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs189431870	chr11:8200475-8200476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373701321	chr11:8200478-8200479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555295448	chr11:8200494-8200495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182317452	chr11:8200512-8200513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186939975	chr11:8200592-8200593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191824579	chr11:8200603-8200604	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533325059	chr11:8200617-8200618	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145979745	chr11:8200618-8200619	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535111133	chr11:8200628-8200629	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373702508	chr11:8200629-8200630	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10769883	chr11:8200635-8200636	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8198800-8200200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8199200-8200200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:8200000-8200200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:8200000-8200200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:8200200-8202000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:8200200-8202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:8200600-8200800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:8201600-8202400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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