Variant report

Variant	nsv1064630
Chromosome Location	chr16:82821672-82831914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82800736..82802731-chr16:82823544..82826539,2	K562	blood:

Extended variants
information (count: 762 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7185386	chr16:82821672-82821673	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546925875	chr16:82821674-82821675	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143614377	chr16:82821679-82821680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74028295	chr16:82821694-82821695	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550486086	chr16:82821701-82821702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112471916	chr16:82821711-82821712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148630728	chr16:82821719-82821720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7186123	chr16:82821752-82821753	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557784729	chr16:82821756-82821757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75921145	chr16:82821761-82821762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114739522	chr16:82821762-82821763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553270572	chr16:82821813-82821814	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs58478244	chr16:82821815-82821816	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184146181	chr16:82821818-82821819	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375013673	chr16:82821824-82821825	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150708548	chr16:82821854-82821855	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs376211872	chr16:82821855-82821856	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369156381	chr16:82821859-82821860	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543657119	chr16:82821866-82821867	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575742215	chr16:82821892-82821893	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373103123	chr16:82821902-82821903	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7184426	chr16:82821908-82821909	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs35683760	chr16:82821914-82821915	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528511056	chr16:82821918-82821919	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139032441	chr16:82821972-82821973	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs561996734	chr16:82821986-82821987	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs16958644	chr16:82821991-82821992	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs80268194	chr16:82821992-82821993	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115398592	chr16:82821995-82821996	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs533107614	chr16:82821999-82822000	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144536952	chr16:82822006-82822007	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146630826	chr16:82822007-82822008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs7184633	chr16:82822013-82822014	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554930090	chr16:82822016-82822017	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568458694	chr16:82822022-82822023	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535772383	chr16:82822059-82822060	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189992186	chr16:82822063-82822064	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs575760039	chr16:82822064-82822065	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs546344688	chr16:82822067-82822068	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs558305475	chr16:82822070-82822071	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141727320	chr16:82822078-82822079	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111284651	chr16:82822089-82822090	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34297725	chr16:82822128-82822129	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs140137500	chr16:82822165-82822166	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143768267	chr16:82822176-82822177	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62034555	chr16:82822195-82822196	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546970520	chr16:82822219-82822220	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145761797	chr16:82822284-82822285	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115997552	chr16:82822290-82822291	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533832897	chr16:82822300-82822301	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:82815800-82821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
5	chr16:82817200-82821800	Weak transcription	Right Atrium	heart
6	chr16:82817200-82838800	Weak transcription	Psoas Muscle	Psoas
7	chr16:82817400-82821800	Weak transcription	NHLF	lung
8	chr16:82817400-82822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:82817400-82822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:82817800-82828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:82818000-82828800	Weak transcription	Right Ventricle	heart
12	chr16:82818400-82839600	Weak transcription	Aorta	Aorta
13	chr16:82818600-82821800	Weak transcription	Left Ventricle	heart
14	chr16:82819600-82829200	Weak transcription	Fetal Muscle Leg	muscle
15	chr16:82819600-82833800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:82819800-82822000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr16:82820200-82838600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:82820400-82826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:82821000-82826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:82821400-82823000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:82821400-82823200	Strong transcription	HMEC	breast
22	chr16:82821600-82823600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr16:82821600-82823600	Strong transcription	HSMMtube	muscle
24	chr16:82821600-82823600	Strong transcription	NHEK	skin
25	chr16:82821600-82823800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:82821600-82823800	Strong transcription	HSMM	muscle
27	chr16:82821800-82822200	ZNF genes & repeats	NHLF	lung
28	chr16:82821800-82822800	Genic enhancers	Left Ventricle	heart
29	chr16:82821800-82823600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr16:82822000-82822600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr16:82822000-82822800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:82822000-82823200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:82822600-82833800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr16:82822800-82823200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:82822800-82823400	Enhancers	Fetal Heart	heart
36	chr16:82822800-82839000	Weak transcription	Left Ventricle	heart
37	chr16:82823000-82825000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:82823200-82823600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr16:82823200-82832200	Weak transcription	HMEC	breast
40	chr16:82823400-82823600	Enhancers	Primary B cells from peripheral blood	blood
41	chr16:82823400-82823600	Enhancers	Right Atrium	heart
42	chr16:82823600-82825200	Weak transcription	NHEK	skin
43	chr16:82823600-82828400	Weak transcription	HSMMtube	muscle
44	chr16:82823600-82858000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:82823800-82825800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:82823800-82828600	Weak transcription	HSMM	muscle
47	chr16:82825000-82826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:82825200-82826000	Strong transcription	NHEK	skin
49	chr16:82825800-82833000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:82826000-82828600	Weak transcription	NHEK	skin

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