Variant report

Variant	nsv906999
Chromosome Location	chr16:80335933-80387019
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:0)
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	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
2	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
3	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
4	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
5	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
6	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
7	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
8	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
9	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
10	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
11	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
12	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
13	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
14	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
15	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
16	chr16:80374923..80375802-chr16:80560060..80560618,2	MCF-7	breast:
17	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
18	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
19	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
20	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
21	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
22	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
23	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
24	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:

No data

Extended variants
information (count: 2358 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2358 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2139107	chr16:80335933-80335934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553151019	chr16:80335934-80335935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566768896	chr16:80335941-80335942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534107049	chr16:80335944-80335945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572953966	chr16:80335977-80335978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186681612	chr16:80336035-80336036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538048773	chr16:80336040-80336041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539236395	chr16:80336044-80336045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557185793	chr16:80336052-80336053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555945549	chr16:80336073-80336074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558854798	chr16:80336087-80336088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575896542	chr16:80336106-80336107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189883431	chr16:80336134-80336135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553382592	chr16:80336136-80336137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572390979	chr16:80336145-80336146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542882577	chr16:80336176-80336177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142913808	chr16:80336196-80336197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530374362	chr16:80336204-80336205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372213439	chr16:80336211-80336212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150699641	chr16:80336221-80336222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113484233	chr16:80336243-80336244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72163304	chr16:80336272-80336273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548863078	chr16:80336290-80336291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2679293	chr16:80336291-80336292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59126918	chr16:80336298-80336299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149841919	chr16:80336300-80336301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547789817	chr16:80336316-80336317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559817489	chr16:80336333-80336334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545761536	chr16:80336335-80336336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559562650	chr16:80336357-80336358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544537308	chr16:80336369-80336370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537634496	chr16:80336374-80336375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549996543	chr16:80336406-80336407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571233257	chr16:80336417-80336418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2626634	chr16:80336420-80336421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182846679	chr16:80336421-80336422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571681833	chr16:80336428-80336429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541376041	chr16:80336444-80336445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535845347	chr16:80336494-80336495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574537610	chr16:80336508-80336509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576711653	chr16:80336557-80336558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543649319	chr16:80336565-80336566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188898669	chr16:80336572-80336573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367568554	chr16:80336576-80336577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561454811	chr16:80336580-80336581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116004287	chr16:80336603-80336604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530809245	chr16:80336669-80336670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141495884	chr16:80336674-80336675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79520743	chr16:80336675-80336676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530076532	chr16:80336684-80336685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80332200-80336000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr16:80332800-80336000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:80333000-80340200	Weak transcription	Fetal Kidney	kidney
4	chr16:80333400-80340400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:80334200-80336000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:80334400-80337600	Weak transcription	Fetal Stomach	stomach
7	chr16:80334600-80337200	Weak transcription	Fetal Lung	lung
8	chr16:80334600-80337200	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:80335000-80336000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr16:80335000-80336000	Weak transcription	NHDF-Ad	bronchial
11	chr16:80335000-80337800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:80335000-80339800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr16:80335200-80336200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:80335200-80337600	Weak transcription	HSMMtube	muscle
15	chr16:80335200-80337600	Weak transcription	Osteobl	bone
16	chr16:80335200-80338000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:80335600-80336000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:80335600-80336000	Enhancers	Pancreas	Pancrea
19	chr16:80335600-80337800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:80335800-80336000	Enhancers	Lung	lung
21	chr16:80335800-80337200	Weak transcription	HSMM	muscle
22	chr16:80335800-80337800	Weak transcription	Aorta	Aorta
23	chr16:80336000-80336200	Enhancers	NHDF-Ad	bronchial
24	chr16:80336000-80336800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:80336000-80337600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:80336000-80341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:80336200-80337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:80336800-80337000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:80337200-80338200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:80337200-80338400	Enhancers	Fetal Lung	lung
31	chr16:80337200-80338400	Enhancers	Fetal Muscle Leg	muscle
32	chr16:80337200-80338600	Enhancers	HSMM	muscle
33	chr16:80337400-80338400	Enhancers	Brain Anterior Caudate	brain
34	chr16:80337600-80338200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:80337600-80338200	Enhancers	Fetal Heart	heart
36	chr16:80337600-80338200	Enhancers	Osteobl	bone
37	chr16:80337600-80338400	Enhancers	Fetal Stomach	stomach
38	chr16:80337600-80338400	Enhancers	HSMMtube	muscle
39	chr16:80337600-80338600	Enhancers	Fetal Intestine Large	intestine
40	chr16:80337600-80338800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr16:80337800-80338000	Enhancers	Aorta	Aorta
42	chr16:80337800-80338200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:80337800-80338400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:80338000-80338200	Enhancers	Pancreas	Pancrea
45	chr16:80338000-80338400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:80338000-80338400	Enhancers	Fetal Intestine Small	intestine
47	chr16:80338200-80340600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:80338400-80340000	Weak transcription	Fetal Stomach	stomach
49	chr16:80338400-80340800	Weak transcription	Fetal Lung	lung
50	chr16:80338400-80340800	Weak transcription	Fetal Muscle Leg	muscle

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