Variant report

Variant	esv995719
Chromosome Location	chr16:46409302-46454077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:
2	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:
3	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:
4	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:
5	chr16:46419232..46419882-chr2:89838516..89839016,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

No data

Extended variants
information (count: 8626 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:8626 , 50 per page) page: 1 2 3 4 5 6 7 ... 173

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77589564	chr16:46409303-46409304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142631231	chr16:46409306-46409307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7200076	chr16:46409312-46409313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9936605	chr16:46409317-46409318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587666374	chr16:46409322-46409323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9921189	chr16:46409323-46409324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587691036	chr16:46409329-46409330	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587701322	chr16:46409360-46409361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62021517	chr16:46409382-46409383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587604544	chr16:46409386-46409387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9928097	chr16:46409388-46409389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62021518	chr16:46409401-46409402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587741555	chr16:46409402-46409403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587618404	chr16:46409403-46409404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587673519	chr16:46409404-46409405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62021519	chr16:46409413-46409414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112421467	chr16:46409415-46409416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587700361	chr16:46409462-46409463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184094440	chr16:46409467-46409468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75427188	chr16:46409484-46409485	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149551093	chr16:46409489-46409490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200826994	chr16:46409491-46409492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587727963	chr16:46409494-46409495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62021520	chr16:46409497-46409498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149658421	chr16:46409506-46409507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77250289	chr16:46409507-46409508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113384360	chr16:46409508-46409509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79645459	chr16:46409509-46409510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6598667	chr16:46409513-46409514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587666089	chr16:46409520-46409521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9921369	chr16:46409522-46409523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs587715227	chr16:46409525-46409526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9921375	chr16:46409532-46409533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62021521	chr16:46409535-46409536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6598668	chr16:46409539-46409540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587704470	chr16:46409540-46409541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587603035	chr16:46409549-46409550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587640395	chr16:46409558-46409559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587711994	chr16:46409559-46409560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62021522	chr16:46409575-46409576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587597451	chr16:46409586-46409587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62021523	chr16:46409599-46409600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76537519	chr16:46409602-46409603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs6598669	chr16:46409613-46409614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs8044349	chr16:46409620-46409621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62021524	chr16:46409624-46409625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375551498	chr16:46409650-46409651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs72483752	chr16:46409653-46409654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369745044	chr16:46409654-46409655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs373475671	chr16:46409656-46409657	ZNF genes & repeats	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:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:46404800-46410000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr16:46404800-46414200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:46404800-46414200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:46404800-46414200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr16:46404800-46414200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr16:46404800-46414200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr16:46404800-46414400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr16:46404800-46414400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr16:46404800-46414400	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr16:46404800-46414400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr16:46404800-46414400	ZNF genes & repeats	Dnd41	blood
14	chr16:46404800-46414600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr16:46404800-46416000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr16:46404800-46417600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr16:46404800-46418800	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr16:46406200-46414200	ZNF genes & repeats	Gastric	stomach
21	chr16:46406400-46409800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:46407600-46414200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:46407600-46414200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr16:46407600-46414400	ZNF genes & repeats	Liver	Liver
25	chr16:46407800-46409600	Weak transcription	Aorta	Aorta
26	chr16:46407800-46409600	Weak transcription	Ovary	ovary
27	chr16:46407800-46409600	Weak transcription	Right Atrium	heart
28	chr16:46407800-46414200	ZNF genes & repeats	Psoas Muscle	Psoas
29	chr16:46408600-46410600	ZNF genes & repeats	HepG2	liver
30	chr16:46408600-46414200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:46408600-46414200	ZNF genes & repeats	HUVEC	blood vessel
32	chr16:46408800-46414200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr16:46408800-46414200	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr16:46408800-46414200	ZNF genes & repeats	Fetal Heart	heart
35	chr16:46408800-46414200	ZNF genes & repeats	Fetal Lung	lung
36	chr16:46409000-46409800	ZNF genes & repeats	Fetal Kidney	kidney
37	chr16:46409000-46409800	ZNF genes & repeats	Hela-S3	cervix
38	chr16:46409000-46409800	ZNF genes & repeats	Osteobl	bone
39	chr16:46409000-46410400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:46409000-46412000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr16:46409000-46412400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
42	chr16:46409000-46412800	ZNF genes & repeats	K562	blood
43	chr16:46409000-46414200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:46409000-46414200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr16:46409000-46414200	ZNF genes & repeats	Fetal Brain Male	brain
46	chr16:46409000-46414200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr16:46409000-46414200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
48	chr16:46409000-46414200	ZNF genes & repeats	NH-A	brain
49	chr16:46409200-46412600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:46409200-46412800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--

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