Variant report

Variant	nsv823687
Chromosome Location	chr6:49626242-49634580
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49428075..49430840-chr6:49629508..49632761,3	K562	blood:
2	chr6:49622238..49624501-chr6:49632059..49633932,2	MCF-7	breast:
3	chr6:49602776..49605755-chr6:49630853..49632855,2	K562	blood:
4	chr6:49511431..49513726-chr6:49629436..49632274,2	MCF-7	breast:
5	chr6:49600996..49604201-chr6:49633369..49637658,4	K562	blood:
6	chr6:49601828..49604447-chr6:49633369..49636416,3	K562	blood:
7	chr6:49587999..49589701-chr6:49633263..49634892,2	K562	blood:
8	chr6:49628536..49631082-chr6:49698654..49700943,2	K562	blood:
9	chr6:49615460..49617130-chr6:49630828..49632463,2	K562	blood:
10	chr6:49633767..49636343-chr6:49654071..49655661,2	K562	blood:
11	chr6:49630233..49632222-chr6:49653794..49656748,2	K562	blood:
12	chr6:49633492..49635239-chr6:49642582..49645981,3	MCF-7	breast:
13	chr6:49625054..49627165-chr6:49627762..49630421,2	K562	blood:
14	chr6:49626742..49629910-chr6:49632110..49636465,6	K562	blood:
15	chr6:49628311..49631834-chr6:49633174..49636094,4	K562	blood:
16	chr6:49630171..49632452-chr6:49633861..49636514,2	MCF-7	breast:
17	chr6:49633013..49635197-chr6:49641337..49642973,2	K562	blood:
18	chr6:49613336..49617130-chr6:49630747..49632463,3	K562	blood:
19	chr6:49626742..49629910-chr6:49632110..49636465,6	K562	blood:
20	chr6:49431208..49433199-chr6:49629940..49632995,3	K562	blood:
21	chr6:49633093..49639293-chr6:49639855..49647033,9	MCF-7	breast:
22	chr6:49625054..49627165-chr6:49627762..49630421,2	K562	blood:
23	chr6:49601442..49605420-chr6:49627022..49630029,3	K562	blood:
24	chr6:49591732..49594241-chr6:49632240..49636978,5	MCF-7	breast:
25	chr6:49516788..49522068-chr6:49633938..49638066,6	MCF-7	breast:
26	chr6:49632622..49635202-chr6:49667293..49669736,2	K562	blood:
27	chr6:49622277..49624632-chr6:49629588..49632029,2	MCF-7	breast:
28	chr6:49628311..49631834-chr6:49633174..49636094,4	K562	blood:
29	chr6:49630171..49632452-chr6:49633861..49636514,2	MCF-7	breast:
30	chr6:49519726..49522132-chr6:49629181..49631048,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf141-3	chr6:49630549-49631038	l_3189_chr6:49627839-49631038_hela
2	lnc-C6orf141-3	chr6:49627840-49628242	l_3189_chr6:49627839-49631038_hela

No data

Variant related genes	Relation type
ENSG00000112077	chromatin interactions
ENSG00000197261	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4636019	chr6:49626260-49626261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34979102	chr6:49626277-49626278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13211415	chr6:49626320-49626321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549166513	chr6:49626372-49626373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78358667	chr6:49626373-49626374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567379568	chr6:49626388-49626389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376344847	chr6:49626391-49626392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180704571	chr6:49626419-49626420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140788826	chr6:49626457-49626458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536707936	chr6:49626505-49626506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556384822	chr6:49626526-49626527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34529195	chr6:49626578-49626579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540163236	chr6:49626694-49626695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570176997	chr6:49626705-49626706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7765046	chr6:49626718-49626719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576302557	chr6:49626724-49626725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370665320	chr6:49626728-49626729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373785971	chr6:49626754-49626755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555491660	chr6:49626760-49626761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573840668	chr6:49626766-49626767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11752114	chr6:49626814-49626815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150102184	chr6:49626901-49626902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577935883	chr6:49626928-49626929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545357077	chr6:49626956-49626957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563589478	chr6:49626960-49626961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186102711	chr6:49626977-49626978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549203306	chr6:49627003-49627004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561060940	chr6:49627072-49627073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534570625	chr6:49627091-49627092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199871732	chr6:49627097-49627098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556423861	chr6:49627101-49627102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9473635	chr6:49627137-49627138	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571252264	chr6:49627183-49627184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191873880	chr6:49627207-49627208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538280014	chr6:49627232-49627233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146729069	chr6:49627246-49627247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570014555	chr6:49627251-49627252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368367649	chr6:49627268-49627269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537342260	chr6:49627310-49627311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140365975	chr6:49627343-49627344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79388778	chr6:49627360-49627361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs535147156	chr6:49627366-49627367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77673828	chr6:49627392-49627393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs578018856	chr6:49627426-49627427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545083346	chr6:49627475-49627476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184114693	chr6:49627508-49627509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575657292	chr6:49627543-49627544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542933511	chr6:49627577-49627578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs202183200	chr6:49627584-49627585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4715140	chr6:49627594-49627595	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49624600-49629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:49629600-49629800	Enhancers	K562	blood
3	chr6:49629800-49630600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:49629800-49630800	Flanking Active TSS	K562	blood
5	chr6:49629800-49631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:49630000-49631000	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:49630200-49630600	Enhancers	Fetal Lung	lung
8	chr6:49630200-49631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:49630400-49631200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:49630800-49631000	Active TSS	K562	blood
11	chr6:49631000-49631200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:49631000-49631200	Flanking Active TSS	K562	blood
13	chr6:49631000-49634800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:49631200-49632600	Weak transcription	K562	blood
15	chr6:49631200-49634400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:49631200-49634400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:49631200-49635800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:49632600-49633600	Enhancers	K562	blood
19	chr6:49633600-49634000	Weak transcription	K562	blood
20	chr6:49633600-49634400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:49634000-49637800	Enhancers	K562	blood
22	chr6:49634400-49634600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:49634400-49635000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:49634400-49636000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:49634400-49636200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:49634400-49636400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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