Variant report

Variant	nsv2267
Chromosome Location	chr18:39123940-39169583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIT2-2	chr18:39168721-39169243	NONHSAT059046
2	lnc-RIT2-2	chr18:39144763-39144862	ENSG00000267313.2

Extended variants
information (count: 1576 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1576 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4374260	chr18:39123997-39123998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547242073	chr18:39124018-39124019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1954875	chr18:39124047-39124048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141640908	chr18:39124103-39124104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545665168	chr18:39124182-39124183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560401098	chr18:39124228-39124229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572622800	chr18:39124291-39124292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183462007	chr18:39124296-39124297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150530213	chr18:39124348-39124349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528954420	chr18:39124364-39124365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377130217	chr18:39124403-39124404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187954599	chr18:39124404-39124405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533085461	chr18:39124417-39124418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1942080	chr18:39124481-39124482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192007865	chr18:39124496-39124497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557799696	chr18:39124500-39124501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527492784	chr18:39124506-39124507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548855581	chr18:39124509-39124510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182947014	chr18:39124512-39124513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569662190	chr18:39124537-39124538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139535266	chr18:39124539-39124540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187413239	chr18:39124563-39124564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571645689	chr18:39124633-39124634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529134134	chr18:39124638-39124639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554462546	chr18:39124641-39124642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16974943	chr18:39124656-39124657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543254150	chr18:39124688-39124689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79226055	chr18:39124690-39124691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574965910	chr18:39124717-39124718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573437275	chr18:39124731-39124732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543119080	chr18:39124742-39124743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192562670	chr18:39124802-39124803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150033445	chr18:39124830-39124831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544639609	chr18:39124835-39124836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147312016	chr18:39124847-39124848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10083938	chr18:39124902-39124903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549198865	chr18:39124942-39124943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562815657	chr18:39125003-39125004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144308152	chr18:39125037-39125038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184750465	chr18:39125058-39125059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531868151	chr18:39125085-39125086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2612335	chr18:39125096-39125097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs571734965	chr18:39125174-39125175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539030598	chr18:39125177-39125178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35065331	chr18:39125239-39125240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566404245	chr18:39125284-39125285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536530210	chr18:39125381-39125382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79960045	chr18:39125383-39125384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55871553	chr18:39125384-39125385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77365857	chr18:39125471-39125472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39118600-39125800	Weak transcription	Fetal Heart	heart
2	chr18:39125800-39126600	Enhancers	Fetal Heart	heart
3	chr18:39132400-39135800	Enhancers	Fetal Heart	heart
4	chr18:39133200-39134200	Enhancers	Left Ventricle	heart
5	chr18:39133800-39134200	Enhancers	Adipose Nuclei	Adipose
6	chr18:39135800-39138400	Weak transcription	Fetal Heart	heart
7	chr18:39136000-39137000	Enhancers	Stomach Mucosa	stomach
8	chr18:39138400-39139000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr18:39138400-39139000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:39138400-39139200	Enhancers	Fetal Heart	heart
11	chr18:39138600-39138800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr18:39138600-39139000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr18:39138600-39139000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr18:39138800-39139000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr18:39138800-39150000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:39139000-39149200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:39139000-39156800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:39139200-39139800	Weak transcription	Fetal Heart	heart
19	chr18:39139600-39145000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:39139800-39140000	Enhancers	Fetal Heart	heart
21	chr18:39141600-39143200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:39142200-39142600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:39142400-39142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:39142400-39142600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr18:39142600-39143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:39142600-39143600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr18:39142600-39156600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:39143200-39144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:39143600-39143800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr18:39143600-39143800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr18:39143800-39144000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:39144000-39155800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:39149200-39149600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr18:39149400-39149600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr18:39149600-39149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:39149800-39150400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr18:39150000-39150400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr18:39150000-39154800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr18:39150200-39150400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr18:39150200-39150400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr18:39150400-39156000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:39150400-39161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr18:39154400-39158200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:39154800-39157200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr18:39155400-39155600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr18:39155800-39156800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:39155800-39157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:39155800-39158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:39156000-39157200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr18:39156400-39157000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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