Variant report

Variant	nsv1017572
Chromosome Location	chr6:14830510-14906933
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:72)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:14856336..14859262-chr6:14863134..14864951,2	K562	blood:
2	chr6:14823252..14825585-chr6:14828791..14831420,2	K562	blood:
3	chr6:14879278..14882861-chr6:15247379..15250654,3	MCF-7	breast:
4	chr6:14829370..14831676-chr6:14847016..14849967,2	K562	blood:
5	chr6:14889124..14892994-chr6:15246955..15250888,4	MCF-7	breast:
6	chr6:14865443..14867040-chr6:15243650..15246331,2	K562	blood:
7	chr6:14887062..14891026-chr6:15088768..15091846,4	MCF-7	breast:
8	chr6:14883074..14885637-chr6:15431868..15434468,2	K562	blood:
9	chr6:14834277..14836911-chr6:14848692..14850242,2	K562	blood:
10	chr17:41465669..41466283-chr6:14881916..14882436,3	Hela-S3	cervix:
11	chr6:14881565..14884528-chr6:15089043..15091614,2	MCF-7	breast:
12	chr6:14873407..14875194-chr6:15247880..15249732,2	MCF-7	breast:
13	chr6:14834277..14836911-chr6:14848692..14850242,2	K562	blood:
14	chr6:14870064..14872343-chr6:14875249..14877493,2	K562	blood:
15	chr6:14867887..14869558-chr6:15211671..15213641,2	K562	blood:
16	chr6:14873522..14875982-chr6:14876555..14879315,2	K562	blood:
17	chr6:14870064..14873401-chr6:14874524..14877493,5	K562	blood:
18	chr6:14870368..14872279-chr6:14881525..14883346,2	K562	blood:
19	chr6:14872119..14873889-chr6:14887014..14889043,2	K562	blood:
20	chr6:14762038..14763627-chr6:14854047..14856910,2	MCF-7	breast:
21	chr6:14853794..14855414-chr6:14869823..14871547,2	K562	blood:
22	chr6:14849033..14850865-chr6:14852195..14855112,2	K562	blood:
23	chr6:14849033..14850865-chr6:14852195..14855112,2	K562	blood:
24	chr6:14853802..14857029-chr6:14858944..14862650,3	K562	blood:
25	chr6:14600846..14602352-chr6:14832527..14834089,2	K562	blood:
26	chr6:14889916..14891466-chr6:15090101..15091814,2	MCF-7	breast:
27	chr6:14888308..14890393-chr6:15254270..15256315,2	MCF-7	breast:
28	chr6:14904460..14907062-chr6:14908136..14911069,2	K562	blood:
29	chr6:14862885..14864499-chr6:15089012..15091573,2	MCF-7	breast:
30	chr6:14878630..14881043-chr6:14886019..14889778,3	K562	blood:
31	chr6:14882657..14885190-chr6:14887791..14890499,2	K562	blood:
32	chr6:14853802..14857029-chr6:14858944..14862650,3	K562	blood:
33	chr6:14845916..14847475-chr6:14850133..14851997,2	MCF-7	breast:
34	chr6:14829370..14831676-chr6:14847016..14849967,2	K562	blood:
35	chr6:14879787..14882034-chr6:14922461..14924041,2	K562	blood:
36	chr6:14887758..14891402-chr6:15064654..15067912,3	MCF-7	breast:
37	chr6:14862977..14865846-chr6:14871194..14873734,2	MCF-7	breast:
38	chr6:14870064..14873401-chr6:14874524..14877493,5	K562	blood:
39	chr6:14870064..14872343-chr6:14875249..14877493,2	K562	blood:
40	chr6:14853794..14855414-chr6:14869823..14871547,2	K562	blood:
41	chr6:14872119..14873889-chr6:14887014..14889043,2	K562	blood:
42	chr17:41464584..41467211-chr6:14880436..14883416,3	K562	blood:
43	chr17:41398882..41400413-chr6:14881916..14883436,2	MCF-7	breast:
44	chr6:14886246..14888120-chr6:15244325..15247107,2	MCF-7	breast:
45	chr6:14881041..14883237-chr8:90912853..90914805,2	MCF-7	breast:
46	chr6:14886333..14888051-chr6:14888105..14890290,2	MCF-7	breast:
47	chr6:14879953..14882671-chr6:14890558..14892719,2	K562	blood:
48	chr6:14881770..14884048-chr6:15014899..15017508,2	K562	blood:
49	chr6:14823162..14824752-chr6:14829920..14831830,2	K562	blood:
50	chr6:14879953..14882671-chr6:14890558..14892719,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTNBP1-5	chr6:14874500-14875285	NONHSAT107859
2	lnc-DTNBP1-5	chr6:14897165-14897607	NONHSAT107859
3	lnc-DTNBP1-5	chr6:14876283-14876501	NONHSAT107859
4	lnc-DTNBP1-5	chr6:14861853-14862052	NONHSAT107859
5	lnc-JARID2-1	chr6:14841455-14841582	ENSG00000231077
6	lnc-DTNBP1-5	chr6:14861230-14861548	NONHSAT107859
7	lnc-JARID2-1	chr6:14871911-14871959	ENSG00000231077

No data

Variant related genes	Relation type
ENSG00000234261	chromatin interactions
ENSG00000164823	chromatin interactions
ENSG00000235488	chromatin interactions
ENSG00000008083	chromatin interactions
ENSG00000207359	chromatin interactions
ENSG00000271888	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 2873 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2873 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559695269	chr6:14830516-14830517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187352241	chr6:14830529-14830530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10645943	chr6:14830548-14830549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375746072	chr6:14830551-14830552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562492630	chr6:14830622-14830623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11962465	chr6:14830626-14830627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183329971	chr6:14830665-14830666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565093538	chr6:14830688-14830689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201604095	chr6:14830692-14830693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534497493	chr6:14830745-14830746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547743783	chr6:14830768-14830769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188001704	chr6:14830901-14830902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141440688	chr6:14830974-14830975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575042546	chr6:14830986-14830987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549360431	chr6:14830994-14830995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372576540	chr6:14831021-14831022	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77498440	chr6:14831024-14831025	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs538350397	chr6:14831032-14831033	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375338755	chr6:14831078-14831079	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192233402	chr6:14831098-14831099	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs577842328	chr6:14831101-14831102	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549284272	chr6:14831130-14831131	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184332336	chr6:14831188-14831189	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs559426751	chr6:14831221-14831222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540742812	chr6:14831291-14831292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560628533	chr6:14831315-14831316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75788684	chr6:14831337-14831338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188038817	chr6:14831341-14831342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367905140	chr6:14831342-14831343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191519489	chr6:14831396-14831397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184352063	chr6:14831414-14831415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75574586	chr6:14831415-14831416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545113227	chr6:14831437-14831438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565052039	chr6:14831474-14831475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527516238	chr6:14831485-14831486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10085264	chr6:14831512-14831513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561214103	chr6:14831513-14831514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7755454	chr6:14831550-14831551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549071670	chr6:14831557-14831558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569255561	chr6:14831571-14831572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79122950	chr6:14831596-14831597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145092558	chr6:14831602-14831603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562676704	chr6:14831619-14831620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551492011	chr6:14831716-14831717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571496065	chr6:14831721-14831722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534167397	chr6:14831734-14831735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62390276	chr6:14831802-14831803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567824614	chr6:14831803-14831804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188925441	chr6:14831805-14831806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555861466	chr6:14831873-14831874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:1299 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14825600-14830600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:14825800-14830600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:14826200-14832000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:14827400-14831800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:14827800-14830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:14828600-14830600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:14828600-14837600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:14829000-14831000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:14829000-14831600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:14829200-14830600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:14829200-14830600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:14829200-14831000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:14829200-14831000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:14829200-14831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:14829200-14831800	Weak transcription	Fetal Kidney	kidney
16	chr6:14829400-14831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:14830200-14830800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:14830200-14830800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:14830200-14833000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:14830400-14831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:14830400-14833200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:14830600-14830800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:14830600-14831000	Enhancers	K562	blood
24	chr6:14830600-14831200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:14830600-14832400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:14830600-14832800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:14830600-14832800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:14830600-14833000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:14830800-14831400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:14830800-14831600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:14831000-14831200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr6:14831000-14831400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:14831000-14831800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:14831000-14831800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:14831000-14832200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:14831200-14831600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:14831400-14833000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:14831400-14833000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr6:14831600-14832000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:14831600-14832200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:14831600-14832800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:14831600-14832800	Enhancers	Brain Hippocampus Middle	brain
43	chr6:14831600-14833000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:14831600-14833000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:14831600-14833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:14831800-14832000	Enhancers	Brain Anterior Caudate	brain
47	chr6:14831800-14832000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:14831800-14832600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:14831800-14832600	Enhancers	Fetal Kidney	kidney
50	chr6:14831800-14833000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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