Variant report

Variant	nsv431525
Chromosome Location	chr16:82820866-82824214
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: 240 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12934135	chr16:82820866-82820867	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533699993	chr16:82820867-82820868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183801738	chr16:82820868-82820869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144411439	chr16:82820869-82820870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188464153	chr16:82820930-82820931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547563805	chr16:82820933-82820934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146620019	chr16:82820939-82820940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371863124	chr16:82820973-82820974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530123211	chr16:82820998-82820999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548223160	chr16:82821007-82821008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397978867	chr16:82821027-82821028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12933198	chr16:82821028-82821029	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533513971	chr16:82821051-82821052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552458715	chr16:82821059-82821060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78930604	chr16:82821063-82821064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534843431	chr16:82821107-82821108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575582346	chr16:82821122-82821123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574626351	chr16:82821153-82821154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535541865	chr16:82821156-82821157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12924560	chr16:82821176-82821177	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs58593866	chr16:82821188-82821189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77553022	chr16:82821208-82821209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183408338	chr16:82821241-82821242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565600077	chr16:82821247-82821248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62034552	chr16:82821255-82821256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145072895	chr16:82821273-82821274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62034553	chr16:82821278-82821279	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549414928	chr16:82821291-82821292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530183569	chr16:82821307-82821308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186621061	chr16:82821323-82821324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563594609	chr16:82821324-82821325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151265287	chr16:82821337-82821338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140455647	chr16:82821370-82821371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150389663	chr16:82821383-82821384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534908956	chr16:82821393-82821394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546864563	chr16:82821397-82821398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568265761	chr16:82821398-82821399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138648187	chr16:82821408-82821409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34110303	chr16:82821433-82821434	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201280356	chr16:82821445-82821446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76566426	chr16:82821446-82821447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57075665	chr16:82821457-82821458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200564162	chr16:82821460-82821461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575227941	chr16:82821463-82821464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539453463	chr16:82821478-82821479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75075082	chr16:82821528-82821529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577512579	chr16:82821531-82821532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191612028	chr16:82821549-82821550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372951605	chr16:82821550-82821551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142933582	chr16:82821561-82821562	Weak transcription Strong transcription	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82805600-82821600	Weak transcription	NHEK	skin
2	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82815800-82821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
8	chr16:82817000-82821600	Weak transcription	HSMMtube	muscle
9	chr16:82817200-82821600	Weak transcription	HSMM	muscle
10	chr16:82817200-82821800	Weak transcription	Right Atrium	heart
11	chr16:82817200-82838800	Weak transcription	Psoas Muscle	Psoas
12	chr16:82817400-82821800	Weak transcription	NHLF	lung
13	chr16:82817400-82822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:82817400-82822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:82817800-82828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:82818000-82828800	Weak transcription	Right Ventricle	heart
17	chr16:82818400-82839600	Weak transcription	Aorta	Aorta
18	chr16:82818600-82821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:82818600-82821800	Weak transcription	Left Ventricle	heart
20	chr16:82818800-82821600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:82819000-82821400	Weak transcription	HMEC	breast
22	chr16:82819600-82829200	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:82819600-82833800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:82819800-82822000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:82820200-82838600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:82820400-82826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:82821000-82826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:82821400-82823000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:82821400-82823200	Strong transcription	HMEC	breast
30	chr16:82821600-82823600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr16:82821600-82823600	Strong transcription	HSMMtube	muscle
32	chr16:82821600-82823600	Strong transcription	NHEK	skin
33	chr16:82821600-82823800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:82821600-82823800	Strong transcription	HSMM	muscle
35	chr16:82821800-82822200	ZNF genes & repeats	NHLF	lung
36	chr16:82821800-82822800	Genic enhancers	Left Ventricle	heart
37	chr16:82821800-82823600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:82822000-82822600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr16:82822000-82822800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr16:82822000-82823200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:82822600-82833800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:82822800-82823200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr16:82822800-82823400	Enhancers	Fetal Heart	heart
44	chr16:82822800-82839000	Weak transcription	Left Ventricle	heart
45	chr16:82823000-82825000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:82823200-82823600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr16:82823200-82832200	Weak transcription	HMEC	breast
48	chr16:82823400-82823600	Enhancers	Primary B cells from peripheral blood	blood
49	chr16:82823400-82823600	Enhancers	Right Atrium	heart
50	chr16:82823600-82825200	Weak transcription	NHEK	skin

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