Variant report

Variant	nsv978320
Chromosome Location	chr16:81400082-81410915
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81296710..81297703-chr16:81399610..81400759,4	MCF-7	breast:
2	chr16:81348439..81350259-chr16:81409837..81412238,3	MCF-7	breast:
3	chr16:81399492..81401511-chr16:81421134..81423707,2	K562	blood:
4	chr16:81402764..81405493-chr16:81409051..81411986,2	K562	blood:
5	chr16:81399845..81400545-chr16:81771329..81771866,2	MCF-7	breast:
6	chr16:81409982..81414172-chr16:81414350..81416327,5	K562	blood:
7	chr16:81389850..81392744-chr16:81404140..81407123,3	K562	blood:
8	chr16:81347950..81350114-chr16:81397372..81401433,3	MCF-7	breast:
9	chr16:81408562..81410572-chr16:81817269..81819390,2	K562	blood:
10	chr16:81410198..81413162-chr16:81434374..81435892,2	MCF-7	breast:
11	chr16:81406782..81409533-chr16:81410750..81415931,4	K562	blood:
12	chr16:81399727..81400409-chr16:81437226..81437815,2	MCF-7	breast:
13	chr16:81399271..81400806-chr16:81410047..81412446,2	K562	blood:
14	chr16:81399729..81400539-chr16:81730864..81731487,2	MCF-7	breast:
15	chr16:81409982..81413670-chr16:81414350..81417251,3	K562	blood:
16	chr16:81402253..81405317-chr16:81407967..81410469,4	MCF-7	breast:
17	chr16:81399726..81400320-chr16:81761293..81761936,2	MCF-7	breast:
18	chr16:81399376..81400535-chr16:81756173..81757335,5	MCF-7	breast:
19	chr16:81406207..81407721-chr16:81409165..81410786,2	MCF-7	breast:
20	chr16:81406782..81409533-chr16:81410750..81415931,4	K562	blood:
21	chr16:81399752..81400627-chr16:81771394..81771904,3	MCF-7	breast:
22	chr16:81308065..81311392-chr16:81404971..81409467,4	MCF-7	breast:
23	chr16:81399992..81400629-chr16:81924059..81924603,2	K562	blood:
24	chr16:81294426..81295369-chr16:81399868..81400402,2	MCF-7	breast:
25	chr16:81402764..81406733-chr16:81409051..81413423,3	K562	blood:
26	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:
27	chr16:81399642..81400599-chr16:81771271..81772233,7	K562	blood:
28	chr16:81347731..81349479-chr16:81406718..81408469,2	MCF-7	breast:
29	chr16:81399386..81400092-chr8:87410522..87411170,2	MCF-7	breast:
30	chr16:81409476..81411284-chr16:81422287..81424681,2	MCF-7	breast:
31	chr16:81402764..81406733-chr16:81409051..81413423,3	K562	blood:
32	chr16:81406517..81408767-chr16:81427027..81429941,2	K562	blood:
33	chr16:81398530..81401709-chr16:81403591..81406985,3	K562	blood:
34	chr16:81398306..81401709-chr16:81401972..81406985,5	K562	blood:
35	chr16:81400080..81400797-chr16:81765997..81766568,2	K562	blood:
36	chr16:81409751..81411946-chr16:81415475..81417498,3	MCF-7	breast:
37	chr16:81398977..81401666-chr16:81406634..81409921,3	MCF-7	breast:
38	chr16:81399271..81400806-chr16:81410047..81412446,2	K562	blood:
39	chr16:81402253..81405317-chr16:81407967..81410469,4	MCF-7	breast:
40	chr16:81402764..81405493-chr16:81409051..81411986,2	K562	blood:
41	chr16:81406207..81407721-chr16:81409165..81410786,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261609	chromatin interactions
ENSG00000261218	chromatin interactions
ENSG00000197943	chromatin interactions

Extended variants
information (count: 600 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554177696	chr16:81400099-81400100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs568077382	chr16:81400112-81400113	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1037972	chr16:81400127-81400128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79274752	chr16:81400150-81400151	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs150258802	chr16:81400176-81400177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2161728	chr16:81400177-81400178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558101896	chr16:81400186-81400187	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138955919	chr16:81400202-81400203	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs181729672	chr16:81400263-81400264	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371971127	chr16:81400334-81400335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs555510823	chr16:81400383-81400384	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573633742	chr16:81400433-81400434	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544272332	chr16:81400460-81400461	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185755133	chr16:81400472-81400473	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577895110	chr16:81400490-81400491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545168450	chr16:81400514-81400515	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148971869	chr16:81400522-81400523	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527499223	chr16:81400523-81400524	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs2608556	chr16:81400532-81400533	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561846228	chr16:81400537-81400538	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143754801	chr16:81400577-81400578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs79450037	chr16:81400617-81400618	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569191393	chr16:81400653-81400654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6564874	chr16:81400661-81400662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552071811	chr16:81400670-81400671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2608557	chr16:81400715-81400716	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534407574	chr16:81400729-81400730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs8057691	chr16:81400743-81400744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs573822600	chr16:81400781-81400782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537826880	chr16:81400801-81400802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs8051575	chr16:81400815-81400816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs146094502	chr16:81400819-81400820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544944023	chr16:81400821-81400822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531215039	chr16:81400833-81400834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572096954	chr16:81400839-81400840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542458943	chr16:81400847-81400848	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138787463	chr16:81400849-81400850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551038708	chr16:81400894-81400895	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529380003	chr16:81400896-81400897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540530693	chr16:81400912-81400913	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190160887	chr16:81400928-81400929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550538492	chr16:81400964-81400965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2615700	chr16:81400971-81400972	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141427690	chr16:81400992-81400993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533378545	chr16:81401035-81401036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs35649246	chr16:81401058-81401059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532412553	chr16:81401064-81401065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181137499	chr16:81401065-81401066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs8058279	chr16:81401070-81401071	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185176020	chr16:81401097-81401098	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
3	chr16:81384000-81404800	Weak transcription	Stomach Mucosa	stomach
4	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
5	chr16:81384200-81434600	Weak transcription	NHLF	lung
6	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
7	chr16:81385000-81406200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
11	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:81387200-81407000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr16:81387200-81408200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:81387400-81400200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:81387600-81405800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:81388000-81400200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr16:81388000-81407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:81390200-81407200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:81390600-81405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:81390600-81407800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr16:81391800-81401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:81392000-81411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
27	chr16:81392400-81408200	Strong transcription	Dnd41	blood
28	chr16:81393600-81402400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:81394400-81405600	Strong transcription	Fetal Stomach	stomach
30	chr16:81394400-81406400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr16:81394600-81402600	Strong transcription	Fetal Intestine Large	intestine
32	chr16:81394800-81400200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:81395000-81400200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:81395000-81400200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr16:81395000-81400200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:81395000-81404200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:81395200-81400200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr16:81395200-81403000	Strong transcription	Fetal Intestine Small	intestine
39	chr16:81395200-81404000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:81395200-81406800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:81395400-81400200	Strong transcription	HepG2	liver
42	chr16:81395400-81401400	Strong transcription	Fetal Muscle Leg	muscle
43	chr16:81395400-81405400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:81395400-81407200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr16:81395600-81400200	Strong transcription	Placenta	Placenta
46	chr16:81395600-81402400	Strong transcription	Osteobl	bone
47	chr16:81395600-81404400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:81395600-81406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr16:81395800-81400200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:81395800-81402600	Strong transcription	Fetal Muscle Trunk	muscle

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