Variant report

Variant	nsv527568
Chromosome Location	chr16:35168832-35249350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5932 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:5932 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1597128	chr16:35168832-35168833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575301373	chr16:35168845-35168846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140409729	chr16:35168864-35168865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs545930314	chr16:35168898-35168899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs377168541	chr16:35168907-35168908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191118235	chr16:35168934-35168935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs180741437	chr16:35168947-35168948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530586717	chr16:35168952-35168953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548876233	chr16:35168987-35168988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185611709	chr16:35169006-35169007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528372921	chr16:35169008-35169009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs190028173	chr16:35169030-35169031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571134280	chr16:35169041-35169042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183023721	chr16:35169045-35169046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs550660620	chr16:35169101-35169102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570272286	chr16:35169118-35169119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564120929	chr16:35169131-35169132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs537593074	chr16:35169132-35169133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150347099	chr16:35169141-35169142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574312973	chr16:35169237-35169238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138073947	chr16:35169254-35169255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs553363655	chr16:35169296-35169297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372737034	chr16:35169297-35169298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577588828	chr16:35169305-35169306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs544790685	chr16:35169349-35169350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs545115879	chr16:35169398-35169399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556995305	chr16:35169413-35169414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs575100392	chr16:35169447-35169448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142408046	chr16:35169456-35169457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187402416	chr16:35169457-35169458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190314578	chr16:35169464-35169465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373803735	chr16:35169477-35169478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184121391	chr16:35169479-35169480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564910766	chr16:35169502-35169503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532104134	chr16:35169518-35169519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138510680	chr16:35169522-35169523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188628715	chr16:35169534-35169535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529801357	chr16:35169545-35169546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549585195	chr16:35169547-35169548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567739061	chr16:35169572-35169573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535351548	chr16:35169588-35169589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553359335	chr16:35169610-35169611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571319571	chr16:35169613-35169614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538601658	chr16:35169624-35169625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs374997884	chr16:35169625-35169626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575376103	chr16:35169655-35169656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567606623	chr16:35169658-35169659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368880809	chr16:35169659-35169660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376024052	chr16:35169669-35169670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554769360	chr16:35169673-35169674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35164600-35171800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:35167600-35170000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:35175400-35176200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:35194200-35194600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:35197000-35197200	Enhancers	Hela-S3	cervix
6	chr16:35197000-35197200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr16:35197000-35197200	ZNF genes & repeats	NH-A	brain
8	chr16:35197200-35201400	Weak transcription	NH-A	brain
9	chr16:35200800-35208600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr16:35201200-35213200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr16:35201400-35201600	ZNF genes & repeats	NH-A	brain
12	chr16:35201600-35205800	Weak transcription	NH-A	brain
13	chr16:35203600-35205800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr16:35205600-35208600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr16:35205600-35209200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr16:35205600-35221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:35205800-35206000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:35205800-35206000	ZNF genes & repeats	Small Intestine	intestine
19	chr16:35205800-35206200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr16:35205800-35206200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr16:35205800-35206200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:35205800-35206200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr16:35205800-35206200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:35205800-35206200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
25	chr16:35205800-35206200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:35205800-35206200	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr16:35205800-35206200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr16:35205800-35206200	ZNF genes & repeats	Fetal Lung	lung
29	chr16:35205800-35206200	ZNF genes & repeats	HUVEC	blood vessel
30	chr16:35205800-35206200	ZNF genes & repeats	NH-A	brain
31	chr16:35205800-35206400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr16:35205800-35212200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr16:35206000-35206200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:35206000-35206200	ZNF genes & repeats	HepG2	liver
35	chr16:35206200-35215800	Weak transcription	NH-A	brain
36	chr16:35207400-35208400	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr16:35208600-35210800	ZNF genes & repeats	Liver	Liver
38	chr16:35210400-35210600	ZNF genes & repeats	Brain Angular Gyrus	brain
39	chr16:35210800-35211600	Weak transcription	Liver	Liver
40	chr16:35211600-35213800	ZNF genes & repeats	Liver	Liver
41	chr16:35211600-35221200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr16:35213200-35213600	Active TSS	Aorta	Aorta
43	chr16:35213400-35213600	ZNF genes & repeats	Left Ventricle	heart
44	chr16:35213400-35215800	Weak transcription	Small Intestine	intestine
45	chr16:35213600-35215800	Weak transcription	Aorta	Aorta
46	chr16:35213600-35215800	Weak transcription	Left Ventricle	heart
47	chr16:35214000-35215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:35214400-35216600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr16:35214400-35220600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr16:35215400-35216200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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