Variant report

Variant	esv3501895
Chromosome Location	chr16:46423858-46443004
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	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:
2	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHCBP1-4	chr16:46440726-46441360	ucscGeneNc_uc002eex_1

Extended variants
information (count: 4153 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4153 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137928325	chr16:46423858-46423859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561402213	chr16:46423864-46423865	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28806573	chr16:46423865-46423866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9935252	chr16:46423866-46423867	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71243961	chr16:46423868-46423869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55662738	chr16:46423869-46423870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28864462	chr16:46423871-46423872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9928194	chr16:46423872-46423873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28863936	chr16:46423873-46423874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11488997	chr16:46423874-46423875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11864777	chr16:46423875-46423876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4967475	chr16:46423877-46423878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28871955	chr16:46423881-46423882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28808036	chr16:46423882-46423883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28809039	chr16:46423885-46423886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4404093	chr16:46423886-46423887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12185194	chr16:46423887-46423888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4966669	chr16:46423889-46423890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9923429	chr16:46423890-46423891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9928196	chr16:46423893-46423894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4967477	chr16:46423895-46423896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4404094	chr16:46423896-46423897	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9935261	chr16:46423897-46423898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9928265	chr16:46423903-46423904	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28856613	chr16:46423908-46423909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4638607	chr16:46423910-46423911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13337770	chr16:46423912-46423913	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28807776	chr16:46423913-46423914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4424930	chr16:46423915-46423916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60778946	chr16:46423916-46423917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56109172	chr16:46423917-46423918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28768474	chr16:46423921-46423922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9746649	chr16:46423922-46423923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9745914	chr16:46423923-46423924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7189652	chr16:46423926-46423927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7498937	chr16:46423931-46423932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28838013	chr16:46423934-46423935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28837394	chr16:46423936-46423937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28852480	chr16:46423937-46423938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28778620	chr16:46423938-46423939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9923504	chr16:46423939-46423940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13336688	chr16:46423941-46423942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7200524	chr16:46423942-46423943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13337772	chr16:46423943-46423944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4967478	chr16:46423944-46423945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2624576	chr16:46423945-46423946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28815892	chr16:46423946-46423947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9746481	chr16:46423950-46423951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9935346	chr16:46423951-46423952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9937501	chr16:46423955-46423956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr16:46422200-46430400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:46422800-46430400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46422800-46430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr16:46423000-46424200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:46423000-46424200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr16:46423000-46424400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr16:46423000-46430000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr16:46423000-46430400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:46423000-46430400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr16:46423000-46430400	ZNF genes & repeats	Liver	Liver
16	chr16:46423000-46430400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr16:46423000-46430400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
18	chr16:46423000-46433200	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr16:46423200-46424000	ZNF genes & repeats	Aorta	Aorta
20	chr16:46423200-46424000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
21	chr16:46423200-46424000	ZNF genes & repeats	Stomach Mucosa	stomach
22	chr16:46423200-46424000	ZNF genes & repeats	HSMMtube	muscle
23	chr16:46423200-46424200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
26	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr16:46423200-46424200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr16:46423200-46424200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
29	chr16:46423200-46424200	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr16:46423200-46424200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr16:46423200-46424200	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr16:46423200-46424200	ZNF genes & repeats	Gastric	stomach
33	chr16:46423200-46424200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
34	chr16:46423200-46424400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:46423200-46424400	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr16:46423200-46424400	ZNF genes & repeats	Left Ventricle	heart
37	chr16:46423200-46428200	ZNF genes & repeats	Colon Smooth Muscle	Colon
38	chr16:46423200-46430400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr16:46423200-46430400	ZNF genes & repeats	Fetal Brain Male	brain
40	chr16:46423200-46430400	ZNF genes & repeats	Fetal Heart	heart
41	chr16:46423200-46430400	ZNF genes & repeats	Fetal Lung	lung
42	chr16:46423200-46430400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr16:46423200-46430400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr16:46423600-46425200	Weak transcription	A549	lung
45	chr16:46423600-46425200	Weak transcription	HUVEC	blood vessel
46	chr16:46423600-46425400	Weak transcription	K562	blood
47	chr16:46423600-46425400	Weak transcription	NHDF-Ad	bronchial
48	chr16:46423600-46425400	Weak transcription	NHLF	lung
49	chr16:46424000-46425200	Weak transcription	HSMMtube	muscle
50	chr16:46424000-46425400	Weak transcription	Aorta	Aorta

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