Variant report

Variant	nsv984231
Chromosome Location	chr16:12226828-12231741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12225063..12228356-chr16:12228504..12231414,3	K562	blood:
2	chr16:12213304..12215275-chr16:12226853..12228529,2	MCF-7	breast:
3	chr16:12231008..12232542-chr16:12255971..12258594,2	K562	blood:
4	chr16:12225063..12228356-chr16:12228504..12231414,3	K562	blood:

Extended variants
information (count: 252 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544710626	chr16:12226829-12226830	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564725554	chr16:12226853-12226854	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs568721809	chr16:12226868-12226869	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530662736	chr16:12226916-12226917	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544155083	chr16:12226925-12226926	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377212670	chr16:12226940-12226941	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370441406	chr16:12226981-12226982	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568498451	chr16:12226996-12226997	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149570407	chr16:12227024-12227025	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549331362	chr16:12227040-12227041	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375335910	chr16:12227046-12227047	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185586485	chr16:12227052-12227053	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190296735	chr16:12227056-12227057	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114649680	chr16:12227062-12227063	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537680014	chr16:12227063-12227064	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191576	chr16:12227069-12227070	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557358146	chr16:12227079-12227080	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547736954	chr16:12227085-12227086	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191575	chr16:12227113-12227114	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567916200	chr16:12227126-12227127	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs1703530	chr16:12227133-12227134	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs1703529	chr16:12227135-12227136	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369803585	chr16:12227139-12227140	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553755918	chr16:12227162-12227163	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs57733463	chr16:12227165-12227166	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs350287	chr16:12227174-12227175	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552509361	chr16:12227180-12227181	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572543208	chr16:12227182-12227183	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs148808483	chr16:12227211-12227212	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558256775	chr16:12227287-12227288	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575328947	chr16:12227296-12227297	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376204073	chr16:12227310-12227311	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143898446	chr16:12227336-12227337	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200318735	chr16:12227338-12227339	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560948030	chr16:12227353-12227354	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182501549	chr16:12227371-12227372	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112652684	chr16:12227438-12227439	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367809375	chr16:12227441-12227442	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139706387	chr16:12227445-12227446	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370604298	chr16:12227447-12227448	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs75990350	chr16:12227467-12227468	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551884597	chr16:12227495-12227496	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs539887147	chr16:12227496-12227497	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144372723	chr16:12227547-12227548	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530926784	chr16:12227580-12227581	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577332495	chr16:12227587-12227588	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs374552316	chr16:12227599-12227600	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368532802	chr16:12227607-12227608	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551128517	chr16:12227642-12227643	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115412060	chr16:12227649-12227650	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
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	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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12184400-12231200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:12198200-12227800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:12208200-12228000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:12211000-12227800	Weak transcription	Fetal Intestine Small	intestine
5	chr16:12213200-12232600	Weak transcription	Colonic Mucosa	Colon
6	chr16:12213800-12228200	Weak transcription	Lung	lung
7	chr16:12213800-12228400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:12213800-12231400	Weak transcription	Small Intestine	intestine
9	chr16:12213800-12255400	Weak transcription	Gastric	stomach
10	chr16:12214000-12228000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:12215000-12227600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:12215000-12227800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:12215000-12228200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:12215000-12233200	Weak transcription	Fetal Lung	lung
15	chr16:12215200-12229200	Weak transcription	NHDF-Ad	bronchial
16	chr16:12215400-12228000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:12215400-12228200	Weak transcription	Left Ventricle	heart
18	chr16:12215400-12231000	Weak transcription	HepG2	liver
19	chr16:12215400-12241600	Weak transcription	NH-A	brain
20	chr16:12215600-12228000	Weak transcription	Fetal Muscle Leg	muscle
21	chr16:12215600-12228200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:12215600-12228200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr16:12215600-12234000	Weak transcription	Right Ventricle	heart
24	chr16:12215600-12234400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:12217800-12241800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:12218600-12228000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:12218600-12241200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:12218800-12241000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:12219200-12228400	Weak transcription	Fetal Kidney	kidney
30	chr16:12219400-12228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:12219400-12237600	Weak transcription	Fetal Intestine Large	intestine
32	chr16:12219600-12227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:12219600-12227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:12219600-12231800	Weak transcription	Liver	Liver
35	chr16:12219800-12227400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr16:12219800-12228200	Weak transcription	Esophagus	oesophagus
37	chr16:12220000-12236400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr16:12220200-12229800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:12220400-12230600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr16:12220400-12236000	Strong transcription	Primary B cells from cord blood	blood
41	chr16:12220600-12228200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:12220600-12236800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:12220800-12228000	Weak transcription	NHEK	skin
44	chr16:12220800-12229600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:12221000-12237200	Weak transcription	K562	blood
46	chr16:12221400-12230200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:12221400-12236200	Strong transcription	GM12878-XiMat	blood
48	chr16:12221400-12236400	Strong transcription	Primary T cells from cord blood	blood
49	chr16:12221600-12234200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr16:12221600-12241600	Weak transcription	Placenta Amnion	Placenta Amnion

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