Variant report

Variant	nsv906961
Chromosome Location	chr16:77673597-77728235
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:68)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:77687539..77690141-chr16:78086576..78089013,2	MCF-7	breast:
2	chr16:77666135..77671025-chr16:77671164..77674266,4	K562	blood:
3	chr16:77715872..77718609-chr16:77756204..77757893,2	MCF-7	breast:
4	chr16:77709594..77710119-chr16:78004193..78005069,2	K562	blood:
5	chr16:77685342..77690368-chr16:77692022..77694160,4	MCF-7	breast:
6	chr16:77633435..77634605-chr16:77694012..77694839,5	MCF-7	breast:
7	chr16:77709330..77710630-chr16:78005145..78006052,11	K562	blood:
8	chr16:77709752..77710318-chr16:78036565..78037487,3	K562	blood:
9	chr16:77710646..77713010-chr16:77714035..77716849,2	MCF-7	breast:
10	chr16:77709541..77710298-chr16:77985370..77986287,4	MCF-7	breast:
11	chr16:77707917..77711206-chr16:78034514..78038420,5	MCF-7	breast:
12	chr16:77686332..77688882-chr16:77693068..77695679,2	MCF-7	breast:
13	chr16:77633681..77634587-chr16:77709347..77710202,4	MCF-7	breast:
14	chr16:77633402..77634464-chr16:77694120..77694942,5	MCF-7	breast:
15	chr16:77675283..77677201-chr16:77679287..77681153,2	MCF-7	breast:
16	chr16:77690515..77693261-chr16:77693714..77695891,2	MCF-7	breast:
17	chr16:77636418..77639200-chr16:77708861..77710434,2	MCF-7	breast:
18	chr16:77269587..77270650-chr16:77693914..77694941,6	MCF-7	breast:
19	chr16:77628723..77630849-chr16:77707512..77709974,2	MCF-7	breast:
20	chr16:77709303..77710297-chr16:78004548..78005999,11	MCF-7	breast:
21	chr16:77709824..77710381-chr16:77816642..77817263,2	MCF-7	breast:
22	chr16:77709041..77711322-chr16:77756531..77758991,2	K562	blood:
23	chr16:77678330..77681247-chr16:77683040..77686814,3	K562	blood:
24	chr16:77672608..77676304-chr16:77676785..77680142,3	MCF-7	breast:
25	chr16:77707515..77710290-chr16:78035283..78037188,2	MCF-7	breast:
26	chr16:77708998..77710554-chr16:78006031..78007938,2	MCF-7	breast:
27	chr16:77708555..77710805-chr16:77970493..77973993,3	MCF-7	breast:
28	chr16:77708676..77709388-chr16:78085931..78086472,2	MCF-7	breast:
29	chr16:77725175..77727130-chr16:77770976..77773501,2	K562	blood:
30	chr16:77707478..77709484-chr16:78004260..78007156,2	MCF-7	breast:
31	chr16:77720799..77722479-chr16:77728268..77730389,2	MCF-7	breast:
32	chr16:77690874..77693605-chr16:77699376..77701862,3	MCF-7	breast:
33	chr16:77632750..77638052-chr16:77677805..77683228,7	MCF-7	breast:
34	chr16:77618368..77620113-chr16:77693748..77695802,3	MCF-7	breast:
35	chr16:77709638..77710349-chr16:77946426..77947079,2	MCF-7	breast:
36	chr16:77686332..77688882-chr16:77693068..77695679,2	MCF-7	breast:
37	chr16:77627298..77629189-chr16:77688223..77690020,2	MCF-7	breast:
38	chr16:77710538..77711519-chr16:78005392..78006389,3	MCF-7	breast:
39	chr16:77672608..77676304-chr16:77676785..77680142,3	MCF-7	breast:
40	chr16:77635928..77639763-chr16:77707464..77711243,6	MCF-7	breast:
41	chr16:77707399..77712179-chr16:78083151..78087877,5	MCF-7	breast:
42	chr16:77709917..77712656-chr16:77945656..77948125,2	MCF-7	breast:
43	chr16:77636182..77638707-chr16:77703957..77706105,3	MCF-7	breast:
44	chr16:77471519..77472123-chr16:77694084..77694927,2	MCF-7	breast:
45	chr16:77685342..77690368-chr16:77692022..77694160,4	MCF-7	breast:
46	chr16:77269675..77270630-chr16:77694031..77695259,6	MCF-7	breast:
47	chr16:77708386..77711896-chr16:77815024..77817319,3	MCF-7	breast:
48	chr16:77635946..77638059-chr16:77690308..77692551,2	MCF-7	breast:
49	chr16:77690874..77693605-chr16:77699376..77701862,3	MCF-7	breast:
50	chr16:77709343..77710329-chr16:78036510..78037510,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS18-7	chr16:77722264-77722339	NONHSAT143806
2	lnc-ADAMTS18-7	chr16:77721909-77722074	NONHSAT143806

No data

Variant related genes	Relation type
ENSG00000260731	chromatin interactions
ENSG00000140876	chromatin interactions

Extended variants
information (count: 2263 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2263 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs280846	chr16:77673597-77673598	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139138525	chr16:77676802-77676803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560701246	chr16:77676807-77676808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530038447	chr16:77676810-77676811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376391397	chr16:77676820-77676821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201054331	chr16:77676821-77676822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376320082	chr16:77676831-77676832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548010565	chr16:77676836-77676837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35628892	chr16:77676837-77676838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115581844	chr16:77676884-77676885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542422797	chr16:77676991-77676992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555589416	chr16:77679221-77679222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529312090	chr16:77679231-77679232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75672259	chr16:77679232-77679233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187844890	chr16:77679242-77679243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11150006	chr16:77679260-77679261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11150007	chr16:77679280-77679281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201929834	chr16:77679283-77679284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562761755	chr16:77679300-77679301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576336765	chr16:77679357-77679358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542165756	chr16:77679380-77679381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192364274	chr16:77679394-77679395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114463639	chr16:77679425-77679426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547614248	chr16:77679444-77679445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564325952	chr16:77679456-77679457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76797976	chr16:77679527-77679528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182228737	chr16:77679535-77679536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539219131	chr16:77679550-77679551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146916197	chr16:77679551-77679552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187690505	chr16:77679552-77679553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150461022	chr16:77679628-77679629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549820208	chr16:77679635-77679636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151107892	chr16:77679698-77679699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192797689	chr16:77679701-77679702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184841174	chr16:77679724-77679725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566006778	chr16:77679733-77679734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527408673	chr16:77679746-77679747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534898010	chr16:77679809-77679810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs166875	chr16:77679810-77679811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577884107	chr16:77679834-77679835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539551181	chr16:77679856-77679857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550681878	chr16:77679899-77679900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371901207	chr16:77679924-77679925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556576759	chr16:77680026-77680027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576448021	chr16:77680031-77680032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373443039	chr16:77680034-77680035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561727114	chr16:77680038-77680039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201429347	chr16:77680052-77680053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78937383	chr16:77680053-77680054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374318237	chr16:77680054-77680055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77673400-77673600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:77676800-77677000	Enhancers	Fetal Lung	lung
3	chr16:77679200-77680600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:77679600-77679800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:77679800-77681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:77680400-77682600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:77680600-77681000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:77681000-77682600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:77681200-77682400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:77681800-77682200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:77682600-77683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:77682600-77693800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:77683600-77689600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:77683800-77684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:77684000-77684200	Enhancers	Adipose Nuclei	Adipose
16	chr16:77684200-77685400	Weak transcription	Adipose Nuclei	Adipose
17	chr16:77685400-77686600	Enhancers	Adipose Nuclei	Adipose
18	chr16:77685800-77686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:77686200-77687000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:77686600-77687000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:77686600-77687800	Weak transcription	Adipose Nuclei	Adipose
22	chr16:77687000-77687200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:77689200-77689600	Enhancers	Fetal Stomach	stomach
24	chr16:77689600-77693800	Weak transcription	Adipose Nuclei	Adipose
25	chr16:77689600-77693800	Weak transcription	Fetal Stomach	stomach
26	chr16:77690400-77690600	Active TSS	K562	blood
27	chr16:77690600-77691000	Flanking Active TSS	K562	blood
28	chr16:77691000-77691400	Enhancers	K562	blood
29	chr16:77693600-77694000	Enhancers	HUVEC	blood vessel
30	chr16:77693800-77694000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:77693800-77694000	Enhancers	Adipose Nuclei	Adipose
32	chr16:77693800-77694200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:77693800-77694400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr16:77693800-77694400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:77693800-77694400	Enhancers	Fetal Kidney	kidney
36	chr16:77693800-77694800	Enhancers	Fetal Stomach	stomach
37	chr16:77694000-77694200	Bivalent Enhancer	Brain Anterior Caudate	brain
38	chr16:77694000-77694200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:77694000-77694200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr16:77694000-77694200	Flanking Bivalent TSS/Enh	A549	lung
41	chr16:77694000-77694400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:77694000-77694400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr16:77694000-77694400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:77694000-77694400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:77694000-77694400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:77694000-77694400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr16:77694000-77694400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:77694000-77694400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
49	chr16:77694000-77694400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
50	chr16:77694000-77694400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum

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