Variant report

Variant	nsv517189
Chromosome Location	chr6:53896155-53903152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53900838..53902850-chr6:53908352..53911031,2	MCF-7	breast:
2	chr6:53900354..53903292-chr6:53906987..53909749,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC1-8	chr6:53902803-53903034	ucscGeneNc_uc003pce_2
2	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
3	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
4	lnc-KLHL31-3	chr6:53896201-53896499	ENSG00000235050.2
5	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
6	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
7	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2
8	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
9	lnc-LRRC1-8	chr6:53902938-53903034	NONHSAT113215
10	lnc-KLHL31-3	chr6:53897175-53897234	ENSG00000235050.2
11	lnc-KLHL31-3	chr6:53896405-53896499	ENSG00000235050.2

No data

Extended variants
information (count: 269 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs1325833	chr6:53896155-53896156	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543674290	chr6:53896176-53896177	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562946950	chr6:53896208-53896209	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs531861868	chr6:53896215-53896216	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541826206	chr6:53896218-53896219	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs562125472	chr6:53896239-53896240	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201215993	chr6:53896251-53896252	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189441013	chr6:53896255-53896256	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs149892105	chr6:53896276-53896277	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533335197	chr6:53896299-53896300	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs77556287	chr6:53896324-53896325	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs569384619	chr6:53896326-53896327	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs535545536	chr6:53896336-53896337	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs552392921	chr6:53896350-53896351	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs555016243	chr6:53896358-53896359	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs182090714	chr6:53896359-53896360	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs34494457	chr6:53896372-53896373	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs397702749	chr6:53896375-53896376	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs77430893	chr6:53896421-53896422	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs554527022	chr6:53896456-53896457	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs578018170	chr6:53896486-53896487	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs188335449	chr6:53896495-53896496	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs557212186	chr6:53896519-53896520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369601387	chr6:53896527-53896528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376368203	chr6:53896532-53896533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543212171	chr6:53896559-53896560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370747092	chr6:53896566-53896567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141925908	chr6:53896600-53896601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375836228	chr6:53896611-53896612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572397404	chr6:53896659-53896660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541101634	chr6:53896663-53896664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62397361	chr6:53896686-53896687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533467607	chr6:53896797-53896798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536614713	chr6:53896805-53896806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181168778	chr6:53896807-53896808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563542157	chr6:53896811-53896812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376718226	chr6:53896828-53896829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60813871	chr6:53896855-53896856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549051212	chr6:53896861-53896862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71558851	chr6:53896867-53896868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528329183	chr6:53896884-53896885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564215462	chr6:53896894-53896895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144224832	chr6:53896905-53896906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370328340	chr6:53896909-53896910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551416317	chr6:53896916-53896917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11965692	chr6:53896988-53896989	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545533167	chr6:53896999-53897000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551284041	chr6:53897036-53897037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374596662	chr6:53897043-53897044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113880002	chr6:53897057-53897058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53892600-53898200	Weak transcription	Right Atrium	heart
2	chr6:53892800-53896200	Weak transcription	Right Ventricle	heart
3	chr6:53892800-53897000	Enhancers	Fetal Heart	heart
4	chr6:53894400-53896400	Weak transcription	Left Ventricle	heart
5	chr6:53895600-53897000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:53896000-53896200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:53896000-53896400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr6:53896000-53897000	Enhancers	Psoas Muscle	Psoas
9	chr6:53896200-53896400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:53896200-53896400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr6:53896200-53896800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:53896200-53896800	Enhancers	Right Ventricle	heart
13	chr6:53896400-53896800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr6:53896400-53896800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:53896400-53897000	Enhancers	Left Ventricle	heart
16	chr6:53896800-53901200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:53896800-53901600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:53896800-53907800	Weak transcription	Right Ventricle	heart
19	chr6:53897000-53897200	Weak transcription	Psoas Muscle	Psoas
20	chr6:53897000-53897400	Weak transcription	Left Ventricle	heart
21	chr6:53897000-53901600	Weak transcription	Fetal Heart	heart
22	chr6:53897000-53902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:53897200-53897600	Enhancers	Psoas Muscle	Psoas
24	chr6:53897400-53897600	Enhancers	Left Ventricle	heart
25	chr6:53897600-53902000	Weak transcription	Psoas Muscle	Psoas
26	chr6:53897600-53910000	Weak transcription	Left Ventricle	heart
27	chr6:53898200-53898400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:53898200-53898400	Enhancers	Right Atrium	heart
29	chr6:53901200-53902600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:53901600-53902200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:53901600-53903000	Enhancers	Fetal Heart	heart
32	chr6:53901800-53903000	Enhancers	Liver	Liver
33	chr6:53901800-53903200	Enhancers	HepG2	liver
34	chr6:53902000-53902400	Enhancers	Psoas Muscle	Psoas
35	chr6:53902000-53902600	Enhancers	Hela-S3	cervix
36	chr6:53902200-53902800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:53902200-53903000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:53902400-53907800	Weak transcription	Psoas Muscle	Psoas
39	chr6:53902600-53907400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:53903000-53904200	Weak transcription	Fetal Heart	heart
41	chr6:53903000-53907400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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