Variant report

Variant	nsv974812
Chromosome Location	chr16:47631312-47632884
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	chr16:47493851..47495649-chr16:47629927..47632020,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITFG1-2	chr16:47632565-47632907	NONHSAT142302

Variant related genes	Relation type
ENSG00000102893	chromatin interactions
ENSG00000129636	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149851064	chr16:47631331-47631332	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs566984771	chr16:47631335-47631336	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532570981	chr16:47631390-47631391	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552757132	chr16:47631411-47631412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569534394	chr16:47631429-47631430	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189462142	chr16:47631553-47631554	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368486520	chr16:47631575-47631576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372136668	chr16:47631582-47631583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376698301	chr16:47631589-47631590	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567263413	chr16:47631593-47631594	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536279823	chr16:47631595-47631596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs77650800	chr16:47631607-47631608	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs374068333	chr16:47631618-47631619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552764056	chr16:47631660-47631661	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368121894	chr16:47631723-47631724	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370411328	chr16:47631736-47631737	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs193039913	chr16:47631760-47631761	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544835012	chr16:47631763-47631764	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs9921542	chr16:47631815-47631816	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575141023	chr16:47631821-47631822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs116412069	chr16:47631839-47631840	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185739860	chr16:47631928-47631929	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530019665	chr16:47632036-47632037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11863785	chr16:47632096-47632097	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560352120	chr16:47632119-47632120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115831968	chr16:47632165-47632166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552451543	chr16:47632180-47632181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569471911	chr16:47632234-47632235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531983119	chr16:47632265-47632266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367695869	chr16:47632271-47632272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568799187	chr16:47632334-47632335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140656835	chr16:47632346-47632347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190508524	chr16:47632444-47632445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372794612	chr16:47632503-47632504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534788215	chr16:47632547-47632548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181881021	chr16:47632580-47632581	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs186259658	chr16:47632608-47632609	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs558268994	chr16:47632613-47632614	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs11555515	chr16:47632642-47632643	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs575079128	chr16:47632653-47632654	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs11555505	chr16:47632673-47632674	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs11555509	chr16:47632713-47632714	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs188525681	chr16:47632744-47632745	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs11555508	chr16:47632760-47632761	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs554417262	chr16:47632828-47632829	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs574694379	chr16:47632833-47632834	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs540225446	chr16:47632835-47632836	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs560544492	chr16:47632838-47632839	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs114467958	chr16:47632843-47632844	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs74875007	chr16:47632870-47632871	Enhancers Weak transcription Strong transcription Genic enhancers	lncRNA	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:47599800-47651200	Weak transcription	A549	lung
3	chr16:47609000-47646600	Weak transcription	NHLF	lung
4	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr16:47618800-47633000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr16:47619000-47632800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:47619000-47633400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:47619200-47633400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr16:47620400-47653000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:47621200-47651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:47622000-47634800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr16:47624800-47634800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:47625000-47642400	Weak transcription	Fetal Brain Male	brain
14	chr16:47625200-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:47625400-47636800	Weak transcription	Fetal Heart	heart
16	chr16:47625600-47642400	Weak transcription	Right Ventricle	heart
17	chr16:47625600-47645800	Weak transcription	NHEK	skin
18	chr16:47625800-47645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:47625800-47645800	Weak transcription	Psoas Muscle	Psoas
20	chr16:47625800-47646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:47625800-47651400	Weak transcription	Brain Angular Gyrus	brain
22	chr16:47626000-47634800	Weak transcription	Pancreas	Pancrea
23	chr16:47626000-47644800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:47626200-47632200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:47626200-47636200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr16:47626200-47650400	Weak transcription	Osteobl	bone
27	chr16:47626200-47651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:47626200-47676600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:47626200-47677600	Weak transcription	Aorta	Aorta
30	chr16:47626400-47647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:47626400-47648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr16:47626400-47648600	Weak transcription	Colonic Mucosa	Colon
33	chr16:47626400-47649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:47626400-47657200	Weak transcription	Hela-S3	cervix
35	chr16:47626400-47659800	Weak transcription	Fetal Lung	lung
36	chr16:47626400-47670400	Weak transcription	Fetal Intestine Small	intestine
37	chr16:47626600-47632600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:47626600-47632800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr16:47626600-47633400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr16:47626600-47634400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:47626600-47634400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:47626600-47634800	Weak transcription	Fetal Stomach	stomach
43	chr16:47626600-47637800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr16:47626600-47638200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr16:47626600-47638200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:47626600-47640400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:47626600-47640400	Weak transcription	Left Ventricle	heart
48	chr16:47626600-47641000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:47626600-47644400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr16:47626600-47644600	Weak transcription	Fetal Kidney	kidney

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