Variant report

Variant	esv3452685
Chromosome Location	chr1:212080253-212081356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS7-2	chr1:212080694-212080795	NONHSAT009337

Extended variants
information (count: 39 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186757109	chr1:212080265-212080266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545393743	chr1:212080343-212080344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17018161	chr1:212080347-212080348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12045599	chr1:212080363-212080364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574581294	chr1:212080459-212080460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543496966	chr1:212080470-212080471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542852364	chr1:212080491-212080492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560632553	chr1:212080524-212080525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528199960	chr1:212080545-212080546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202070454	chr1:212080627-212080628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546160290	chr1:212080628-212080629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143392634	chr1:212080651-212080652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368404761	chr1:212080690-212080691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12565502	chr1:212080691-212080692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2970583	chr1:212080703-212080704	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs76624264	chr1:212080711-212080712	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs55685367	chr1:212080712-212080713	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs145040457	chr1:212080714-212080715	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs532392143	chr1:212080754-212080755	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs116127918	chr1:212080776-212080777	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs376694250	chr1:212080800-212080801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2970582	chr1:212080831-212080832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs115677870	chr1:212080861-212080862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372140115	chr1:212080917-212080918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80291499	chr1:212080954-212080955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567744305	chr1:212080977-212080978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75692241	chr1:212081011-212081012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553369049	chr1:212081035-212081036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76418769	chr1:212081059-212081060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374568791	chr1:212081071-212081072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545636757	chr1:212081079-212081080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193008053	chr1:212081102-212081103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184663295	chr1:212081141-212081142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542790782	chr1:212081156-212081157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190383051	chr1:212081177-212081178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs151258792	chr1:212081199-212081200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17018162	chr1:212081213-212081214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371918490	chr1:212081265-212081266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35247998	chr1:212081289-212081290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212076200-212080800	Weak transcription	Esophagus	oesophagus
2	chr1:212076200-212083600	Weak transcription	Pancreas	Pancrea
3	chr1:212077200-212082600	Weak transcription	Colonic Mucosa	Colon
4	chr1:212077400-212082400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:212078000-212082400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:212078000-212082400	Weak transcription	HepG2	liver
7	chr1:212078400-212081800	Weak transcription	Liver	Liver
8	chr1:212078800-212080400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:212078800-212080800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:212079600-212087400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:212080000-212081000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr1:212080400-212087600	Enhancers	Fetal Intestine Large	intestine
13	chr1:212080800-212081000	Enhancers	Esophagus	oesophagus
14	chr1:212080800-212081400	Enhancers	GM12878-XiMat	blood
15	chr1:212080800-212087000	Enhancers	Fetal Intestine Small	intestine
16	chr1:212081000-212085000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:212081200-212082200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:212081200-212083600	Weak transcription	Esophagus	oesophagus

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