Variant report

Variant	nsv1061301
Chromosome Location	chr20:16007489-16097070
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9400389..9401174-chr20:16008735..16009312,2	MCF-7	breast:
2	chr20:13439916..13441792-chr20:16089187..16092012,2	K562	blood:
3	chr20:16033600..16035474-chr20:16035827..16038572,2	MCF-7	breast:
4	chr20:16033600..16035474-chr20:16035827..16038572,2	MCF-7	breast:
5	chr20:15994327..15996069-chr20:16007879..16009876,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIF16B-2	chr20:16091244-16091298	XLOC_013660
2	lnc-KIF16B-2	chr20:16089732-16089934	XLOC_013660

No data

Extended variants
information (count: 3318 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3318 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544839266	chr20:16007611-16007612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563164210	chr20:16007615-16007616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180672659	chr20:16007620-16007621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549074975	chr20:16007621-16007622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528981270	chr20:16007622-16007623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567642384	chr20:16007638-16007639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183602873	chr20:16007660-16007661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546654789	chr20:16007686-16007687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571939985	chr20:16007726-16007727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149777419	chr20:16007737-16007738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11318735	chr20:16007770-16007771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557661002	chr20:16007828-16007829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541094200	chr20:16007854-16007855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569479746	chr20:16007896-16007897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536804895	chr20:16007914-16007915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386812809	chr20:16007919-16007920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10708199	chr20:16007920-16007921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541051633	chr20:16007924-16007925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552679993	chr20:16007950-16007951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577537258	chr20:16007954-16007955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6135644	chr20:16008011-16008012	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs188312487	chr20:16008032-16008033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs775118	chr20:16008055-16008056	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542407978	chr20:16008086-16008087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561458591	chr20:16008090-16008091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73111732	chr20:16008140-16008141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145690470	chr20:16008153-16008154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571575493	chr20:16008165-16008166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532503043	chr20:16008177-16008178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181138843	chr20:16008190-16008191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569564941	chr20:16008238-16008239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536894438	chr20:16008272-16008273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377531833	chr20:16008287-16008288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557626496	chr20:16008298-16008299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186476273	chr20:16008307-16008308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371177603	chr20:16008321-16008322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555727692	chr20:16008391-16008392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534436369	chr20:16008398-16008399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551795644	chr20:16008403-16008404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190125148	chr20:16008446-16008447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181755709	chr20:16008449-16008450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148963534	chr20:16008467-16008468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56865319	chr20:16008475-16008476	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147055963	chr20:16008511-16008512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542446762	chr20:16008588-16008589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80095831	chr20:16008629-16008630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs880170	chr20:16008638-16008639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73898332	chr20:16008664-16008665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565342385	chr20:16008674-16008675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543319718	chr20:16008733-16008734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15998400-16012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:16003600-16007800	Weak transcription	Fetal Brain Female	brain
3	chr20:16004200-16008800	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:16004800-16007800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr20:16005000-16008600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:16005200-16009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:16005400-16007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr20:16006200-16007600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:16006400-16008000	Weak transcription	HSMM	muscle
10	chr20:16006400-16008400	Weak transcription	HSMMtube	muscle
11	chr20:16007000-16009400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:16007200-16007600	Genic enhancers	Primary B cells from cord blood	blood
13	chr20:16007200-16009200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:16007200-16009400	Enhancers	Brain Germinal Matrix	brain
15	chr20:16007400-16009200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:16007600-16009000	Enhancers	Fetal Brain Male	brain
17	chr20:16007600-16009200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:16007600-16009200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:16007600-16009200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:16007600-16009400	Enhancers	Primary B cells from cord blood	blood
21	chr20:16007600-16009800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr20:16007800-16008600	Enhancers	Fetal Brain Female	brain
23	chr20:16007800-16009000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr20:16007800-16009200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr20:16007800-16009200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr20:16008000-16008600	Enhancers	HSMM	muscle
27	chr20:16008200-16008800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr20:16008400-16008600	Enhancers	HSMMtube	muscle
29	chr20:16008400-16009000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr20:16008400-16009000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:16008400-16009200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr20:16008600-16009000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:16008800-16011400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr20:16009000-16010800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:16009000-16017200	Weak transcription	Fetal Brain Male	brain
36	chr20:16009200-16014200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr20:16009400-16009800	Weak transcription	Primary B cells from cord blood	blood
38	chr20:16009400-16010200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr20:16009400-16011000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr20:16009800-16010000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr20:16009800-16010800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr20:16009800-16011200	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr20:16010200-16010400	Enhancers	GM12878-XiMat	blood
44	chr20:16010800-16011200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:16011000-16011200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:16011000-16011200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:16011200-16011400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr20:16011200-16016600	Weak transcription	Primary B cells from cord blood	blood
49	chr20:16011400-16017200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr20:16012000-16012200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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