Variant report

Variant	esv3425463
Chromosome Location	chr16:35207151-35263149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6214 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:6214 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370609805	chr16:35207164-35207165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559945816	chr16:35207167-35207168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527469878	chr16:35207198-35207199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552208065	chr16:35207200-35207201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570677544	chr16:35207206-35207207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192284138	chr16:35207212-35207213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549785613	chr16:35207221-35207222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568060056	chr16:35207223-35207224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150337562	chr16:35207227-35207228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112430796	chr16:35207237-35207238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553888494	chr16:35207242-35207243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573492447	chr16:35207269-35207270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111779229	chr16:35207271-35207272	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200557986	chr16:35207295-35207296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201306951	chr16:35207314-35207315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542019589	chr16:35207323-35207324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188703676	chr16:35207328-35207329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200705948	chr16:35207332-35207333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558991520	chr16:35207336-35207337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148242572	chr16:35207346-35207347	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577425991	chr16:35207347-35207348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113802108	chr16:35207360-35207361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556908894	chr16:35207371-35207372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138516103	chr16:35207377-35207378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147140640	chr16:35207383-35207384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185282357	chr16:35207395-35207396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541955527	chr16:35207396-35207397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560180883	chr16:35207420-35207421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527484332	chr16:35207427-35207428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189818869	chr16:35207431-35207432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193253724	chr16:35207456-35207457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531676889	chr16:35207461-35207462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113908475	chr16:35207462-35207463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185437976	chr16:35207470-35207471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182554985	chr16:35207490-35207491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528037981	chr16:35207536-35207537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141497272	chr16:35207538-35207539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35388645	chr16:35207547-35207548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34489346	chr16:35207581-35207582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200171827	chr16:35207590-35207591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200518255	chr16:35207637-35207638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370254577	chr16:35207643-35207644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528859162	chr16:35207654-35207655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547536761	chr16:35207676-35207677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113046000	chr16:35207680-35207681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376066440	chr16:35207687-35207688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113414868	chr16:35207690-35207691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565733392	chr16:35207699-35207700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74878057	chr16:35207700-35207701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191697552	chr16:35207704-35207705	ZNF genes & repeats Weak transcription	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:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35200800-35208600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr16:35201200-35213200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:35205600-35208600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr16:35205600-35209200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:35205600-35221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:35205800-35212200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr16:35206200-35215800	Weak transcription	NH-A	brain
8	chr16:35207400-35208400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr16:35208600-35210800	ZNF genes & repeats	Liver	Liver
10	chr16:35210400-35210600	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr16:35210800-35211600	Weak transcription	Liver	Liver
12	chr16:35211600-35213800	ZNF genes & repeats	Liver	Liver
13	chr16:35211600-35221200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr16:35213200-35213600	Active TSS	Aorta	Aorta
15	chr16:35213400-35213600	ZNF genes & repeats	Left Ventricle	heart
16	chr16:35213400-35215800	Weak transcription	Small Intestine	intestine
17	chr16:35213600-35215800	Weak transcription	Aorta	Aorta
18	chr16:35213600-35215800	Weak transcription	Left Ventricle	heart
19	chr16:35214000-35215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr16:35214400-35216600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr16:35214400-35220600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr16:35215400-35216200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr16:35215400-35216400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:35215600-35216200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:35215800-35216000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:35215800-35216000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:35215800-35216000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:35215800-35216000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr16:35215800-35216000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:35215800-35216000	Flanking Active TSS	Aorta	Aorta
31	chr16:35215800-35216200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr16:35215800-35216200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:35215800-35216200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr16:35215800-35216200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:35215800-35216200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr16:35215800-35216200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr16:35215800-35216200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr16:35215800-35216200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:35215800-35216200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr16:35215800-35216200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
41	chr16:35215800-35216200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr16:35215800-35216200	ZNF genes & repeats	Liver	Liver
43	chr16:35215800-35216200	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr16:35215800-35216200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr16:35215800-35216200	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr16:35215800-35216200	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr16:35215800-35216200	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr16:35215800-35216200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr16:35215800-35216200	ZNF genes & repeats	Fetal Lung	lung
50	chr16:35215800-35216200	ZNF genes & repeats	Gastric	stomach

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