Variant report

Variant	nsv984340
Chromosome Location	chr16:58741302-58743315
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:58742292..58743873-chr16:58764921..58766535,2	K562	blood:
2	chr16:58741476..58744157-chr16:58748760..58750425,2	K562	blood:
3	chr16:58739390..58742462-chr16:58745001..58747793,3	K562	blood:

Variant related genes	Relation type
ENSG00000125166	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540788125	chr16:58741307-58741308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367971408	chr16:58741320-58741321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6993	chr16:58741367-58741368	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs568730706	chr16:58741422-58741423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373561929	chr16:58741466-58741467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535708598	chr16:58741482-58741483	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553780510	chr16:58741497-58741498	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551161101	chr16:58741511-58741512	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373228359	chr16:58741512-58741513	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191852499	chr16:58741526-58741527	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183665595	chr16:58741549-58741550	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3208672	chr16:58741569-58741570	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186732899	chr16:58741576-58741577	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572913528	chr16:58741621-58741622	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191539697	chr16:58741636-58741637	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555421404	chr16:58741662-58741663	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185678680	chr16:58741668-58741669	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573870808	chr16:58741669-58741670	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544138368	chr16:58741676-58741677	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562723100	chr16:58741697-58741698	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536223726	chr16:58741705-58741706	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554628692	chr16:58741711-58741712	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564219906	chr16:58741712-58741713	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532786826	chr16:58741738-58741739	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528510331	chr16:58741762-58741763	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576135968	chr16:58741766-58741767	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190556031	chr16:58741787-58741788	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112684571	chr16:58741797-58741798	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529592690	chr16:58741840-58741841	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7202491	chr16:58741850-58741851	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1803168	chr16:58741852-58741853	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148412428	chr16:58741870-58741871	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533554241	chr16:58741874-58741875	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556624711	chr16:58741895-58741896	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376076671	chr16:58741899-58741900	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142500293	chr16:58741913-58741914	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs72792419	chr16:58741949-58741950	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545280546	chr16:58741954-58741955	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs115094310	chr16:58741967-58741968	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555352642	chr16:58741983-58741984	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374778384	chr16:58742062-58742063	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368662602	chr16:58742084-58742085	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs17849335	chr16:58742085-58742086	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115220077	chr16:58742120-58742121	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200575445	chr16:58742155-58742156	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs151225545	chr16:58742190-58742191	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141302038	chr16:58742191-58742192	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188448255	chr16:58742205-58742206	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199622478	chr16:58742250-58742251	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371835929	chr16:58742251-58742252	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58719200-58741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:58735800-58752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:58737400-58741800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:58737600-58742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:58737600-58743000	Weak transcription	HUVEC	blood vessel
6	chr16:58738200-58757800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:58738200-58758000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:58738400-58759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:58738400-58766600	Weak transcription	Stomach Mucosa	stomach
10	chr16:58739000-58743600	Strong transcription	Fetal Thymus	thymus
11	chr16:58739000-58745000	Weak transcription	Colonic Mucosa	Colon
12	chr16:58739000-58746200	Strong transcription	Fetal Muscle Leg	muscle
13	chr16:58739000-58757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:58739200-58743400	Weak transcription	Fetal Kidney	kidney
15	chr16:58739200-58743800	Strong transcription	Brain Anterior Caudate	brain
16	chr16:58739200-58744200	Strong transcription	HMEC	breast
17	chr16:58739200-58745200	Weak transcription	HSMMtube	muscle
18	chr16:58739200-58746400	Strong transcription	Brain Hippocampus Middle	brain
19	chr16:58739200-58750400	Strong transcription	Fetal Stomach	stomach
20	chr16:58739200-58758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:58739200-58758000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:58739200-58758400	Strong transcription	Primary T cells from cord blood	blood
23	chr16:58739200-58759000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:58739200-58759600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:58739400-58743600	Strong transcription	Lung	lung
26	chr16:58739400-58747800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:58739400-58752000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:58739400-58758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:58739600-58742400	Strong transcription	Pancreas	Pancrea
30	chr16:58739600-58742600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:58739600-58743800	Strong transcription	NHEK	skin
32	chr16:58739600-58744000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:58739600-58744000	Strong transcription	Fetal Brain Female	brain
34	chr16:58739600-58744000	Strong transcription	A549	lung
35	chr16:58739600-58744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:58739600-58746400	Strong transcription	K562	blood
37	chr16:58739600-58748200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:58739600-58753000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:58739600-58757600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:58739600-58757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr16:58739600-58758000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr16:58739600-58758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:58739600-58758400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr16:58739800-58741400	Strong transcription	Fetal Heart	heart
45	chr16:58739800-58742400	Strong transcription	Hela-S3	cervix
46	chr16:58739800-58743600	Strong transcription	Spleen	Spleen
47	chr16:58739800-58743800	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr16:58739800-58743800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr16:58739800-58744000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr16:58739800-58744200	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links