Variant report

Variant	nsv516948
Chromosome Location	chr16:71965725-71988728
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71945578..71947499-chr16:71964859..71966489,2	MCF-7	breast:
2	chr16:71972962..71974935-chr16:71975600..71978155,2	MCF-7	breast:
3	chr16:71928472..71930382-chr16:71972876..71974744,2	MCF-7	breast:
4	chr16:71928513..71931522-chr16:71966735..71969096,3	MCF-7	breast:
5	chr16:71968291..71970171-chr16:71976434..71979180,2	K562	blood:
6	chr16:71977547..71980490-chr16:71985780..71987589,2	K562	blood:
7	chr16:71967092..71968643-chr16:71978130..71979874,2	MCF-7	breast:
8	chr16:71967972..71970520-chr16:71970736..71973104,2	K562	blood:
9	chr16:71970740..71973966-chr16:71975029..71978024,3	K562	blood:
10	chr16:71927384..71929645-chr16:71963039..71965792,3	MCF-7	breast:
11	chr16:71977547..71980490-chr16:71985780..71987589,2	K562	blood:
12	chr16:71942932..71945142-chr16:71984421..71987167,2	K562	blood:
13	chr16:71958595..71960870-chr16:71966170..71968682,3	K562	blood:
14	chr16:71967092..71968643-chr16:71978130..71979874,2	MCF-7	breast:
15	chr16:71968291..71970171-chr16:71976434..71979180,2	K562	blood:
16	chr16:71972962..71974935-chr16:71975600..71978155,2	MCF-7	breast:
17	chr16:71965319..71967704-chr16:72042287..72045013,2	MCF-7	breast:
18	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:
19	chr16:71927647..71930495-chr16:71978328..71980401,2	K562	blood:
20	chr16:71967972..71970520-chr16:71970736..71973104,2	K562	blood:
21	chr16:71958595..71960870-chr16:71966525..71968682,2	K562	blood:
22	chr16:71970740..71973966-chr16:71975029..71978024,3	K562	blood:
23	chr16:71961957..71964879-chr16:71965668..71968577,3	K562	blood:
24	chr16:71981622..71984385-chr16:71994653..71997032,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IST1-2	chr16:71978208-71978654	ucscGeneNc_uc002fco_1

No data

Variant related genes	Relation type
ENSG00000102984	chromatin interactions
ENSG00000263320	chromatin interactions
ENSG00000182149	chromatin interactions
ENSG00000261337	chromatin interactions
ENSG00000102967	chromatin interactions

Extended variants
information (count: 1043 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs952160	chr16:71965725-71965726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539661205	chr16:71965769-71965770	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs185550157	chr16:71965779-71965780	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs375769257	chr16:71965828-71965829	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544808062	chr16:71965835-71965836	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563014272	chr16:71965836-71965837	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs367823243	chr16:71965856-71965857	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573233553	chr16:71965862-71965863	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542343068	chr16:71965878-71965879	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113497827	chr16:71965886-71965887	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs952159	chr16:71965915-71965916	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569328147	chr16:71965919-71965920	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113739334	chr16:71965936-71965937	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140400728	chr16:71965954-71965955	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190405242	chr16:71965992-71965993	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145603075	chr16:71966037-71966038	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376377093	chr16:71966047-71966048	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534553528	chr16:71966089-71966090	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116137643	chr16:71966102-71966103	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572600855	chr16:71966111-71966112	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546339858	chr16:71966175-71966176	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs564438722	chr16:71966241-71966242	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs576364277	chr16:71966262-71966263	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs544094249	chr16:71966264-71966265	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs566769550	chr16:71966290-71966291	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs562286231	chr16:71966305-71966306	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs181679272	chr16:71966322-71966323	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs184999133	chr16:71966332-71966333	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs188568183	chr16:71966334-71966335	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532830579	chr16:71966355-71966356	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs563591505	chr16:71966358-71966359	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs113572388	chr16:71966364-71966365	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs35193011	chr16:71966386-71966387	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs397772096	chr16:71966396-71966397	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377605464	chr16:71966414-71966415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs369550529	chr16:71966449-71966450	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs138135850	chr16:71966462-71966463	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs62053796	chr16:71966463-71966464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530468963	chr16:71966515-71966516	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549247764	chr16:71966522-71966523	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs567481180	chr16:71966528-71966529	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs534794592	chr16:71966533-71966534	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs545661429	chr16:71966534-71966535	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs571481412	chr16:71966553-71966554	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs112755182	chr16:71966566-71966567	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs180929330	chr16:71966568-71966569	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs55650446	chr16:71966624-71966625	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs562951550	chr16:71966632-71966633	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs567084903	chr16:71966635-71966636	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs56164534	chr16:71966636-71966637	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71948800-71966000	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr16:71948800-71966200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr16:71948800-71968800	Strong transcription	Dnd41	blood
4	chr16:71948800-71969600	Strong transcription	Fetal Intestine Large	intestine
5	chr16:71949000-71966200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:71949200-71966600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr16:71949200-71969600	Strong transcription	Fetal Thymus	thymus
8	chr16:71949400-71965800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:71950600-71969600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:71950800-71968800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:71953200-71969600	Strong transcription	Liver	Liver
12	chr16:71953800-71966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:71953800-71969000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:71953800-71969600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:71954000-71969000	Strong transcription	GM12878-XiMat	blood
16	chr16:71954000-71969000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:71954000-71969400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:71954000-71969600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:71954200-71968200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr16:71954200-71969800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:71955000-71969000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:71956800-71971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:71958000-71969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:71961000-71966000	Strong transcription	Primary T cells from cord blood	blood
25	chr16:71961200-71966400	Strong transcription	HepG2	liver
26	chr16:71961800-71969600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:71962000-71971200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr16:71962400-71967800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr16:71962600-71967600	Weak transcription	Colonic Mucosa	Colon
30	chr16:71962600-71967800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:71962600-71967800	Weak transcription	Aorta	Aorta
32	chr16:71962600-71967800	Weak transcription	Pancreas	Pancrea
33	chr16:71962600-71969600	Strong transcription	Placenta	Placenta
34	chr16:71962600-71972000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:71963000-71967600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr16:71963200-71966200	Weak transcription	Spleen	Spleen
37	chr16:71963200-71966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:71963200-71967800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:71963200-71967800	Weak transcription	Gastric	stomach
40	chr16:71963200-71967800	Weak transcription	Lung	lung
41	chr16:71963200-71968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:71963200-71972000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:71963200-71972800	Weak transcription	Right Ventricle	heart
44	chr16:71963400-71967000	Weak transcription	Brain Substantia Nigra	brain
45	chr16:71963400-71967200	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:71963400-71967600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr16:71963400-71968000	Weak transcription	Brain Angular Gyrus	brain
48	chr16:71963400-71969600	Strong transcription	Adipose Nuclei	Adipose
49	chr16:71963600-71965800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:71963600-71966200	Strong transcription	Osteobl	bone

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