Variant report

Variant	nsv1014266
Chromosome Location	chr1:215573051-215730838
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:98)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:215728975..215731835-chr1:215739008..215743111,5	MCF-7	breast:
2	chr1:215655508..215656065-chr1:215718108..215718963,2	MCF-7	breast:
3	chr1:215645440..215647544-chr1:215658602..215661519,2	MCF-7	breast:
4	chr1:215663590..215665817-chr1:215673540..215675188,2	MCF-7	breast:
5	chr1:215646701..215647818-chr1:215655247..215656051,4	MCF-7	breast:
6	chr1:215622337..215625097-chr1:215626697..215628486,2	K562	blood:
7	chr1:215655508..215656065-chr1:215718108..215718963,2	MCF-7	breast:
8	chr1:215641789..215644876-chr1:215645316..215648235,3	K562	blood:
9	chr1:215647301..215647833-chr1:215663192..215664017,2	MCF-7	breast:
10	chr1:214831894..214832787-chr1:215690669..215691583,8	MCF-7	breast:
11	chr1:215576335..215577189-chr1:215690702..215691423,2	MCF-7	breast:
12	chr1:215649830..215650771-chr1:215662339..215662875,2	MCF-7	breast:
13	chr1:215697429..215699454-chr19:49467742..49470425,2	K562	blood:
14	chr1:215598325..215599086-chr1:215646834..215647759,3	MCF-7	breast:
15	chr1:215690701..215691338-chrX:53321371..53322017,2	MCF-7	breast:
16	chr1:214832277..214832863-chr1:215699611..215700462,2	MCF-7	breast:
17	chr1:215572784..215574532-chr1:215574857..215577668,2	K562	blood:
18	chr1:215621412..215623923-chr1:215626096..215629010,2	MCF-7	breast:
19	chr1:215649830..215650771-chr1:215662339..215662875,2	MCF-7	breast:
20	chr1:214833894..214834885-chr1:215699492..215700543,5	MCF-7	breast:
21	chr1:215660646..215662869-chr1:215670952..215673694,2	MCF-7	breast:
22	chr1:215646701..215647850-chr1:215655247..215656051,5	MCF-7	breast:
23	chr1:215646817..215649143-chr1:215661987..215663671,2	MCF-7	breast:
24	chr1:215649219..215651138-chr1:215654320..215656307,2	MCF-7	breast:
25	chr1:215624948..215626572-chr1:215631438..215633502,2	MCF-7	breast:
26	chr1:215660646..215662869-chr1:215670952..215673694,2	MCF-7	breast:
27	chr1:215598355..215599119-chr1:215661939..215663301,3	MCF-7	breast:
28	chr1:215647301..215647833-chr1:215663192..215664017,2	MCF-7	breast:
29	chr1:215598617..215599182-chr1:215655318..215656103,2	MCF-7	breast:
30	chr1:215726004..215728201-chr1:215739965..215741596,2	MCF-7	breast:
31	chr1:214832291..214832816-chr1:215696580..215697541,3	MCF-7	breast:
32	chr1:215621412..215623923-chr1:215626096..215629010,2	MCF-7	breast:
33	chr1:215652527..215655000-chr1:215655463..215657420,3	MCF-7	breast:
34	chr1:215628691..215630584-chr1:215630925..215633155,2	MCF-7	breast:
35	chr1:215598617..215599182-chr1:215655318..215656103,2	MCF-7	breast:
36	chr1:214506031..214506834-chr1:215699653..215700161,2	K562	blood:
37	chr1:215598355..215599119-chr1:215661939..215663301,3	MCF-7	breast:
38	chr1:215728115..215729776-chr1:215731286..215732796,2	MCF-7	breast:
39	chr1:215676034..215678522-chr1:215684144..215685735,2	K562	blood:
40	chr1:215624948..215626572-chr1:215631438..215633502,2	MCF-7	breast:
41	chr1:214834101..214834893-chr1:215690806..215691569,6	MCF-7	breast:
42	chr1:215663590..215665817-chr1:215673540..215675188,2	MCF-7	breast:
43	chr1:215354644..215355511-chr1:215690679..215691509,5	MCF-7	breast:
44	chr1:215693481..215695189-chr1:215695315..215696992,2	MCF-7	breast:
45	chr1:215598452..215599119-chr1:215662801..215663769,2	MCF-7	breast:
46	chr1:215598230..215599139-chr1:215655112..215656019,6	MCF-7	breast:
47	chr1:215598452..215599119-chr1:215662801..215663769,2	MCF-7	breast:
48	chr1:215550395..215553289-chr1:215632429..215635331,2	MCF-7	breast:
49	chr1:215696600..215699320-chr1:215739621..215741254,2	K562	blood:
50	chr1:215676034..215678522-chr1:215684144..215685735,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-5	chr1:215588920-215588980	NONHSAT009471
2	lnc-KCTD3-6	chr1:215584443-215584615	FPKM1_group_2308_transcript_1
3	lnc-KCTD3-6	chr1:215584407-215584506	FPKM1_group_2308_transcript_1
4	lnc-USH2A-2	chr1:215627031-215627183	NONHSAT009472
5	lnc-KCTD3-6	chr1:215588007-215588179	NONHSAT009470
6	lnc-KCTD3-5	chr1:215586199-215586279	NONHSAT009471
7	lnc-USH2A-2	chr1:215627371-215627472	NONHSAT009472
8	lnc-USH2A-2	chr1:215627065-215627166	FPKM1_group_2309_transcript_1
9	lnc-KCTD3-5	chr1:215584887-215585105	NONHSAT009471
10	lnc-USH2A-2	chr1:215627031-215627183	FPKM1_group_2309_transcript_1
11	lnc-KCTD3-6	chr1:215584407-215584506	NONHSAT009470

No data

Variant related genes	Relation type
ENSG00000196562	chromatin interactions
ENSG00000136636	chromatin interactions
ENSG00000087086	chromatin interactions

Extended variants
information (count: 4135 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4135 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187931831	chr1:215573065-215573066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117708585	chr1:215573073-215573074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562746067	chr1:215573109-215573110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17024755	chr1:215573122-215573123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115733694	chr1:215573123-215573124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370684341	chr1:215573144-215573145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185700021	chr1:215573157-215573158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529440160	chr1:215573263-215573264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188923839	chr1:215573270-215573271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561802112	chr1:215573306-215573307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527430589	chr1:215573337-215573338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565355288	chr1:215573433-215573434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570375880	chr1:215573567-215573568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74141268	chr1:215573575-215573576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142643882	chr1:215573588-215573589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17024758	chr1:215573629-215573630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370444876	chr1:215573639-215573640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12142311	chr1:215573672-215573673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560877704	chr1:215573692-215573693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60026262	chr1:215573718-215573719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs58163611	chr1:215573742-215573743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116336220	chr1:215573788-215573789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577622027	chr1:215573795-215573796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115334003	chr1:215573814-215573815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74141269	chr1:215573865-215573866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574024135	chr1:215573906-215573907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147641020	chr1:215573964-215573965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559713569	chr1:215573998-215573999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527354273	chr1:215574009-215574010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577252786	chr1:215574014-215574015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575099238	chr1:215574019-215574020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142212011	chr1:215574049-215574050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192257424	chr1:215574120-215574121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111358646	chr1:215574178-215574179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11362092	chr1:215574223-215574224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397844536	chr1:215574226-215574227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201693537	chr1:215574227-215574228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12072561	chr1:215574276-215574277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549830737	chr1:215574295-215574296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569949739	chr1:215574303-215574304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535763470	chr1:215574379-215574380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188650417	chr1:215574457-215574458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565738617	chr1:215574485-215574486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559673479	chr1:215574505-215574506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145927414	chr1:215574559-215574560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577765967	chr1:215574572-215574573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527595976	chr1:215574601-215574602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537028447	chr1:215574609-215574610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181471091	chr1:215574634-215574635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6690170	chr1:215574645-215574646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215570600-215574200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:215573600-215574400	Enhancers	HMEC	breast
3	chr1:215573600-215574400	Enhancers	NHEK	skin
4	chr1:215574200-215574600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:215574200-215574800	Enhancers	HSMMtube	muscle
6	chr1:215574400-215574600	Enhancers	HSMM	muscle
7	chr1:215574800-215575200	Weak transcription	HSMMtube	muscle
8	chr1:215574800-215576000	Weak transcription	HSMM	muscle
9	chr1:215575000-215575600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:215575200-215575600	Enhancers	HSMMtube	muscle
11	chr1:215575600-215580600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:215576000-215577200	Enhancers	HSMM	muscle
13	chr1:215576000-215577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:215577200-215578200	Weak transcription	HSMM	muscle
15	chr1:215578000-215588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:215578200-215579000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:215578200-215579200	Enhancers	HUVEC	blood vessel
18	chr1:215578200-215579400	Enhancers	HSMM	muscle
19	chr1:215578400-215589800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:215578600-215579000	Enhancers	NHDF-Ad	bronchial
21	chr1:215579000-215580800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:215579000-215581400	Weak transcription	NHDF-Ad	bronchial
23	chr1:215579400-215581000	Weak transcription	HSMM	muscle
24	chr1:215580000-215581600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:215580600-215581200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:215580600-215581200	Enhancers	Osteobl	bone
27	chr1:215580600-215581600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:215580600-215581800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:215580800-215581400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:215581000-215581200	Enhancers	HSMM	muscle
31	chr1:215581000-215581200	Enhancers	HUVEC	blood vessel
32	chr1:215581200-215582800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:215581400-215581600	Enhancers	NHDF-Ad	bronchial
34	chr1:215581600-215584400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:215582600-215583000	Enhancers	NHEK	skin
36	chr1:215582600-215583200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:215582800-215583200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:215582800-215583600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:215583600-215585200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:215584400-215584600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:215584600-215588800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:215585200-215585400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:215585400-215588800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:215585600-215588800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr1:215586400-215586800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:215586800-215588000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:215588000-215588400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr1:215588000-215588800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:215588400-215589800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:215588800-215589000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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