Variant report

Variant	nsv1061195
Chromosome Location	chr16:83193262-83377916
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:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
2	chr16:83295446..83298248-chr16:83300492..83302868,2	K562	blood:
3	chr16:83336461..83338118-chr16:83339893..83341716,2	K562	blood:
4	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
5	chr16:83330907..83333877-chr16:83334981..83337228,2	K562	blood:
6	chr10:8095630..8097287-chr16:83331346..83332927,2	MCF-7	breast:
7	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
8	chr16:83358019..83360218-chr16:83361264..83364171,2	K562	blood:
9	chr16:83233448..83234209-chr16:83474831..83475337,2	MCF-7	breast:
10	chr16:83233439..83234189-chr16:83480103..83481067,2	MCF-7	breast:
11	chr16:83300692..83302901-chr16:83303666..83306436,2	K562	blood:
12	chr14:73392938..73394738-chr16:83350364..83352210,2	MCF-7	breast:
13	chr16:83336235..83337070-chr16:83912500..83913145,2	MCF-7	breast:
14	chr13:54628019..54628961-chr16:83370704..83371434,2	HCT-116	colon:
15	chr13:84761434..84763483-chr16:83281252..83283046,2	MCF-7	breast:
16	chr16:83300692..83302901-chr16:83303666..83306436,2	K562	blood:
17	chr16:83358019..83360218-chr16:83361264..83364171,2	K562	blood:
18	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
19	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
20	chr16:83295446..83298248-chr16:83300492..83302868,2	K562	blood:
21	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
22	chr12:119903985..119904616-chr16:83281227..83281958,2	MCF-7	breast:
23	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
24	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
25	chr16:83330907..83333877-chr16:83334981..83337228,2	K562	blood:
26	chr16:83336461..83338118-chr16:83339893..83341716,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSBP1-7	chr16:83254435-83258166	ucscGeneNc_uc002fih_2
2	lnc-HSBP1-6	chr16:83311363-83311597	expReg_chr16_9049_+

No data

Variant related genes	Relation type
ENSG00000107485	chromatin interactions
ENSG00000119599	chromatin interactions

Extended variants
information (count: 11360 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:11360 , 50 per page) page: 1 2 3 4 5 6 7 ... 228

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6565143	chr16:83193262-83193263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567617608	chr16:83193283-83193284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73604275	chr16:83193291-83193292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550058647	chr16:83193292-83193293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570372989	chr16:83193294-83193295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs68056312	chr16:83193315-83193316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557365051	chr16:83193323-83193324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74031412	chr16:83193329-83193330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113749936	chr16:83193341-83193342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72800238	chr16:83193381-83193382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146237955	chr16:83193395-83193396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555714515	chr16:83193399-83193400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573914444	chr16:83193401-83193402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137959144	chr16:83193408-83193409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187650949	chr16:83193416-83193417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191997740	chr16:83193442-83193443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576440839	chr16:83193453-83193454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545300092	chr16:83193487-83193488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182109466	chr16:83193496-83193497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149482996	chr16:83193500-83193501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565468078	chr16:83193501-83193502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541028096	chr16:83193538-83193539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553152556	chr16:83193540-83193541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561438816	chr16:83193570-83193571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143874643	chr16:83193577-83193578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368060330	chr16:83193588-83193589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369602636	chr16:83193589-83193590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12923518	chr16:83193600-83193601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142466032	chr16:83193608-83193609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552472936	chr16:83193621-83193622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565991880	chr16:83193629-83193630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563902925	chr16:83193641-83193642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375136547	chr16:83193656-83193657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567393532	chr16:83193691-83193692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376580123	chr16:83193694-83193695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535948151	chr16:83193695-83193696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531216454	chr16:83193702-83193703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556349547	chr16:83193706-83193707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543310280	chr16:83193711-83193712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576324088	chr16:83193723-83193724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545186062	chr16:83193744-83193745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147529310	chr16:83193770-83193771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111410292	chr16:83193813-83193814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115174657	chr16:83193814-83193815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145594237	chr16:83193818-83193819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530248739	chr16:83193824-83193825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543531128	chr16:83193848-83193849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563413709	chr16:83193853-83193854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532577295	chr16:83193854-83193855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112213315	chr16:83193895-83193896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD
Acute myeloid leukemia	19651600	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83161200-83205800	Weak transcription	Aorta	Aorta
2	chr16:83174000-83206800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:83178000-83196800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:83181400-83203400	Weak transcription	HSMMtube	muscle
5	chr16:83181600-83220800	Weak transcription	HSMM	muscle
6	chr16:83187200-83195800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:83191600-83193400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:83194000-83194200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:83194000-83195600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr16:83194200-83195200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:83194400-83194800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr16:83194400-83195200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:83194400-83195800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr16:83194400-83195800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr16:83194800-83195400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr16:83194800-83199000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:83195000-83195600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr16:83195200-83195600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr16:83195200-83195600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:83195200-83199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:83195400-83198600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:83195600-83198600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:83195600-83198800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr16:83195600-83198800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:83195800-83197600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:83197600-83220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:83198600-83199400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr16:83198600-83199600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr16:83198600-83199600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr16:83198800-83199400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr16:83198800-83199800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr16:83199000-83199400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr16:83199000-83199400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr16:83201000-83201200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:83201000-83201200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:83201000-83201200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr16:83201000-83201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:83202800-83203400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr16:83203800-83220800	Weak transcription	HMEC	breast
40	chr16:83204800-83205800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:83205000-83205400	Enhancers	HUVEC	blood vessel
42	chr16:83205200-83211000	Weak transcription	NHEK	skin
43	chr16:83205400-83208400	Weak transcription	HUVEC	blood vessel
44	chr16:83205800-83207600	Enhancers	Aorta	Aorta
45	chr16:83208000-83209200	Enhancers	Fetal Brain Male	brain
46	chr16:83208400-83209200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:83208400-83209600	Enhancers	HUVEC	blood vessel
48	chr16:83208600-83209200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:83209000-83209400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:83209200-83217200	Weak transcription	Fetal Brain Male	brain

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