Variant report

Variant	nsv1058227
Chromosome Location	chr16:83160315-83300357
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
2	chr12:119903985..119904616-chr16:83281227..83281958,2	MCF-7	breast:
3	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
4	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
5	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
6	chr13:84761434..84763483-chr16:83281252..83283046,2	MCF-7	breast:
7	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
8	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
9	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
10	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
11	chr16:83233439..83234189-chr16:83480103..83481067,2	MCF-7	breast:
12	chr16:83233448..83234209-chr16:83474831..83475337,2	MCF-7	breast:
13	chr16:83295446..83298248-chr16:83300492..83302868,2	K562	blood:
14	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:
15	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSBP1-7	chr16:83254435-83258166	ucscGeneNc_uc002fih_2

No data

Extended variants
information (count: 8661 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:8661 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535225226	chr16:83160319-83160320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369392387	chr16:83160398-83160399	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73604203	chr16:83160410-83160411	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113709933	chr16:83160425-83160426	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575145566	chr16:83160432-83160433	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77124919	chr16:83160467-83160468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377122342	chr16:83160492-83160493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73604205	chr16:83160496-83160497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550304878	chr16:83160502-83160503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577666365	chr16:83160505-83160506	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575925472	chr16:83160511-83160512	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376175814	chr16:83160533-83160534	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373429172	chr16:83160551-83160552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545129825	chr16:83160558-83160559	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564828069	chr16:83160563-83160564	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571912797	chr16:83160579-83160580	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188230708	chr16:83160596-83160597	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560866134	chr16:83160608-83160609	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181141409	chr16:83160613-83160614	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549786974	chr16:83160659-83160660	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563738679	chr16:83160691-83160692	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532390491	chr16:83160699-83160700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567022413	chr16:83160709-83160710	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376139518	chr16:83160720-83160721	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566129980	chr16:83160756-83160757	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535238729	chr16:83160760-83160761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370273576	chr16:83160768-83160769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548765748	chr16:83160790-83160791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568792810	chr16:83160810-83160811	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34767448	chr16:83160832-83160833	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545972965	chr16:83160859-83160860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375893306	chr16:83160878-83160879	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576035606	chr16:83160903-83160904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs149448706	chr16:83160938-83160939	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115863570	chr16:83160942-83160943	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143405076	chr16:83160948-83160949	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs540850649	chr16:83160982-83160983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs148384721	chr16:83160988-83160989	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574279747	chr16:83161015-83161016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531497401	chr16:83161019-83161020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9933345	chr16:83161038-83161039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142232466	chr16:83161059-83161060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552246689	chr16:83161062-83161063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61154410	chr16:83161063-83161064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4782750	chr16:83161066-83161067	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146377364	chr16:83161072-83161073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139694574	chr16:83161097-83161098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537245853	chr16:83161121-83161122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547403818	chr16:83161123-83161124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565797186	chr16:83161125-83161126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83150200-83178400	Weak transcription	Right Ventricle	heart
2	chr16:83151000-83164800	Weak transcription	Psoas Muscle	Psoas
3	chr16:83152800-83170400	Weak transcription	NHDF-Ad	bronchial
4	chr16:83157600-83160800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:83158400-83160400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:83158400-83160800	ZNF genes & repeats	NHEK	skin
7	chr16:83158400-83161000	ZNF genes & repeats	HMEC	breast
8	chr16:83158600-83160400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr16:83158600-83160400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:83158800-83160800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:83159000-83160600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr16:83159000-83160600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:83159000-83160600	Strong transcription	Left Ventricle	heart
14	chr16:83159000-83160800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
15	chr16:83159000-83160800	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:83159000-83161000	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:83159200-83161000	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr16:83159200-83161000	Strong transcription	HSMMtube	muscle
19	chr16:83159400-83160600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:83159400-83160800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:83159400-83161200	Strong transcription	Aorta	Aorta
22	chr16:83160000-83160800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr16:83160000-83161000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr16:83160000-83162000	Strong transcription	HSMM	muscle
25	chr16:83160000-83164000	Weak transcription	NH-A	brain
26	chr16:83160200-83161000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr16:83160200-83161000	Weak transcription	HUVEC	blood vessel
28	chr16:83160200-83170600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:83160400-83162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:83160400-83162600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:83160600-83162000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:83160600-83170200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:83160600-83170200	Weak transcription	Left Ventricle	heart
34	chr16:83160800-83161000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:83160800-83162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:83160800-83164200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:83160800-83164800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:83160800-83186000	Weak transcription	NHEK	skin
39	chr16:83161000-83161200	Strong transcription	HMEC	breast
40	chr16:83161000-83161400	Weak transcription	HSMMtube	muscle
41	chr16:83161000-83165200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:83161000-83170400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:83161000-83170600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:83161000-83170600	Weak transcription	Fetal Muscle Leg	muscle
45	chr16:83161200-83170400	Weak transcription	HMEC	breast
46	chr16:83161200-83205800	Weak transcription	Aorta	Aorta
47	chr16:83161400-83162000	Strong transcription	HSMMtube	muscle
48	chr16:83162000-83162800	Weak transcription	HSMM	muscle
49	chr16:83162000-83163000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:83162000-83170600	Weak transcription	HSMMtube	muscle

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