Variant report

Variant	nsv978304
Chromosome Location	chr16:47652093-47656051
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:47652839..47655718-chr16:47656564..47660553,3	K562	blood:
2	chr16:47652198..47653880-chr16:47657938..47660462,2	K562	blood:
3	chr16:47646276..47649578-chr16:47653598..47656458,3	K562	blood:
4	chr16:47493375..47499099-chr16:47656022..47661380,7	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITFG1-3	chr16:47652232-47652439	uc_396_-
2	lnc-LONP2-12	chr16:47652232-47652439	uc_396_+

No data

Variant related genes	Relation type
ENSG00000102893	chromatin interactions
ENSG00000129636	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548415923	chr16:47652098-47652099	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534530939	chr16:47652128-47652129	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142207478	chr16:47652133-47652134	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183471403	chr16:47652151-47652152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570733058	chr16:47652159-47652160	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188251332	chr16:47652249-47652250	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549970808	chr16:47652252-47652253	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs574259853	chr16:47652267-47652268	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs372263343	chr16:47652287-47652288	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs544860779	chr16:47652360-47652361	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs193222075	chr16:47652391-47652392	Enhancers Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535626977	chr16:47652459-47652460	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555537101	chr16:47652472-47652473	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140322929	chr16:47652528-47652529	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12445738	chr16:47652580-47652581	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369605130	chr16:47652613-47652614	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376384163	chr16:47652704-47652705	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560613761	chr16:47652783-47652784	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185496892	chr16:47652907-47652908	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576736933	chr16:47652934-47652935	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145369606	chr16:47652939-47652940	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531239480	chr16:47652967-47652968	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137911052	chr16:47652995-47652996	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61663290	chr16:47653016-47653017	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529365831	chr16:47653022-47653023	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77240829	chr16:47653059-47653060	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373228380	chr16:47653106-47653107	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16945438	chr16:47653121-47653122	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190747501	chr16:47653133-47653134	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541301730	chr16:47653149-47653150	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564418519	chr16:47653173-47653174	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369413079	chr16:47653180-47653181	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181717405	chr16:47653186-47653187	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79202922	chr16:47653259-47653260	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140808921	chr16:47653266-47653267	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62061098	chr16:47653286-47653287	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529337137	chr16:47653289-47653290	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549099733	chr16:47653351-47653352	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565913547	chr16:47653402-47653403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534910251	chr16:47653432-47653433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558134582	chr16:47653480-47653481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571919319	chr16:47653603-47653604	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184695807	chr16:47653660-47653661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199728327	chr16:47653762-47653763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556124140	chr16:47653813-47653814	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575997336	chr16:47653905-47653906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138380945	chr16:47653983-47653984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs207475884	chr16:47653996-47653997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556975111	chr16:47654053-47654054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542989223	chr16:47654085-47654086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:47620400-47653000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr16:47625200-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:47626200-47676600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr16:47626200-47677600	Weak transcription	Aorta	Aorta
6	chr16:47626400-47657200	Weak transcription	Hela-S3	cervix
7	chr16:47626400-47659800	Weak transcription	Fetal Lung	lung
8	chr16:47626400-47670400	Weak transcription	Fetal Intestine Small	intestine
9	chr16:47626600-47660800	Weak transcription	Stomach Mucosa	stomach
10	chr16:47626600-47670200	Weak transcription	Spleen	Spleen
11	chr16:47626600-47671000	Weak transcription	Esophagus	oesophagus
12	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
13	chr16:47627000-47685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:47633000-47676200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:47635000-47664800	Weak transcription	Pancreas	Pancrea
16	chr16:47635200-47684200	Weak transcription	Ovary	ovary
17	chr16:47635600-47670400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:47645000-47677800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:47645400-47658000	Weak transcription	HSMM	muscle
20	chr16:47645400-47670800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr16:47645400-47676600	Weak transcription	Fetal Thymus	thymus
22	chr16:47645600-47656200	Weak transcription	GM12878-XiMat	blood
23	chr16:47645600-47667400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:47645600-47668400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:47646000-47667800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr16:47646200-47653400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr16:47646200-47677200	Weak transcription	HSMMtube	muscle
28	chr16:47646600-47671000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:47646800-47667400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr16:47647000-47668200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr16:47647000-47669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr16:47647200-47653200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:47647200-47658400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:47647200-47667200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr16:47647200-47667800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:47647200-47668400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:47647200-47668600	Weak transcription	Adipose Nuclei	Adipose
38	chr16:47647200-47675800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:47647400-47652800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr16:47647400-47668400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr16:47647400-47669000	Weak transcription	Dnd41	blood
42	chr16:47647400-47670800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:47647400-47676600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:47647600-47668600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:47647600-47670200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:47647600-47684200	Weak transcription	Fetal Muscle Leg	muscle
47	chr16:47647800-47668400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:47648200-47660000	Weak transcription	Fetal Stomach	stomach
49	chr16:47648200-47667400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:47648200-47668600	Weak transcription	Thymus	Thymus

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