Variant report

Variant	nsv999211
Chromosome Location	chr1:216268796-216329336
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:14)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216245065..216247165-chr1:216288928..216290480,2	K562	blood:
2	chr1:216285193..216285790-chr1:216916011..216916615,2	MCF-7	breast:
3	chr1:216061208..216061956-chr1:216293049..216293584,2	MCF-7	breast:
4	chr1:216165696..216166649-chr1:216292836..216293591,2	MCF-7	breast:
5	chr1:216312061..216313973-chr1:216314332..216316595,2	K562	blood:
6	chr1:216292629..216293133-chr1:216367159..216367677,2	MCF-7	breast:
7	chr1:216308823..216311948-chr1:216312152..216315770,3	K562	blood:
8	chr1:216284681..216285499-chr1:216394193..216394778,3	MCF-7	breast:
9	chr1:216284977..216285858-chr1:216367147..216367895,3	MCF-7	breast:
10	chr1:216308823..216311948-chr1:216312152..216315770,3	K562	blood:
11	chr1:216207908..216208562-chr1:216293070..216293728,3	MCF-7	breast:
12	chr1:215883823..215884559-chr1:216292963..216293650,2	MCF-7	breast:
13	chr1:216166090..216166621-chr1:216293129..216293695,2	MCF-7	breast:
14	chr1:216312061..216313973-chr1:216314332..216316595,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-9	chr1:216286099-216286218	NONHSAT009483
2	lnc-KCTD3-9	chr1:216291120-216291227	NONHSAT009483
3	lnc-KCTD3-8	chr1:216273538-216273625	NONHSAT009482
4	lnc-KCTD3-9	chr1:216298699-216299105	NONHSAT009483
5	lnc-KCTD3-9	chr1:216283470-216284562	NONHSAT009483
6	lnc-KCTD3-8	chr1:216271800-216271926	NONHSAT009482

No data

Variant related genes	Relation type
ENSG00000233620	chromatin interactions
ENSG00000236292	chromatin interactions

Extended variants
information (count: 2010 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2010 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528120355	chr1:216268806-216268807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544690720	chr1:216268823-216268824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186356044	chr1:216268859-216268860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376290953	chr1:216268862-216268863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12142012	chr1:216268923-216268924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74143944	chr1:216268927-216268928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192024552	chr1:216268973-216268974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17026080	chr1:216268984-216268985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7524115	chr1:216268992-216268993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183600976	chr1:216269005-216269006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74143945	chr1:216269020-216269021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552304154	chr1:216269022-216269023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141969947	chr1:216269029-216269030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74143946	chr1:216269045-216269046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74143947	chr1:216269071-216269072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142036718	chr1:216269097-216269098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188491650	chr1:216269099-216269100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553898105	chr1:216269101-216269102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151122430	chr1:216269111-216269112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545062795	chr1:216269122-216269123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564758113	chr1:216269144-216269145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17026081	chr1:216269176-216269177	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560115801	chr1:216269210-216269211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544221736	chr1:216269233-216269234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192908770	chr1:216269239-216269240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386639319	chr1:216269376-216269377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56241311	chr1:216269377-216269378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202094786	chr1:216269378-216269379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200909871	chr1:216269381-216269382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369886855	chr1:216269383-216269384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58877005	chr1:216269490-216269491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182684521	chr1:216269540-216269541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553508419	chr1:216269581-216269582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532518767	chr1:216269622-216269623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141081415	chr1:216269627-216269628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60354981	chr1:216269649-216269650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560982078	chr1:216269657-216269658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538227069	chr1:216269660-216269661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112684053	chr1:216269717-216269718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528025584	chr1:216269722-216269723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548514202	chr1:216269728-216269729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528803452	chr1:216269749-216269750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568415675	chr1:216269768-216269769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17026083	chr1:216269773-216269774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142483402	chr1:216271819-216271820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs146876218	chr1:216271830-216271831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564032000	chr1:216271840-216271841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs532117429	chr1:216271857-216271858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs35746385	chr1:216271860-216271861	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs74143955	chr1:216271865-216271866	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Pleomorphic liposarcoma	18784837	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216267000-216269800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:216267200-216269400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:216268000-216269600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:216268000-216269600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:216268200-216269600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr1:216268200-216269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:216268200-216269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:216268400-216269200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:216268400-216269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:216268400-216269800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:216268800-216269200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:216268800-216269200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:216268800-216269200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:216268800-216269200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:216268800-216269400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:216268800-216269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:216274800-216275200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:216279600-216286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:216284400-216285600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:216285600-216286000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:216285800-216286800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:216286000-216286200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:216286000-216286400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:216286200-216289800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:216286400-216287000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:216286600-216287200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:216287200-216289800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:216289800-216290400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr1:216289800-216290600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:216289800-216290600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:216289800-216290600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:216289800-216290600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:216289800-216290600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:216290000-216290600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:216290000-216290600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:216290000-216291000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:216290200-216290600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:216290200-216290800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:216290400-216290800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:216290600-216295200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:216290600-216295200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:216290800-216291000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr1:216291000-216300200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:216295200-216295800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:216295200-216296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:216296000-216301600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:216297800-216298200	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:216301600-216301800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:216302600-216302800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:216302800-216312600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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