Variant report

Variant	nsv998236
Chromosome Location	chr3:22979632-23011352
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:22997497..23000412-chr3:23001550..23003702,2	K562	blood:
2	chr3:22993477..22995035-chr3:22997792..23000607,2	MCF-7	breast:
3	chr3:22605314..22606827-chr3:23001573..23002522,7	MCF-7	breast:
4	chr3:22771584..22772119-chr3:23001665..23002525,2	MCF-7	breast:
5	chr3:22975365..22978153-chr3:22981421..22983815,2	MCF-7	breast:
6	chr3:22993477..22995035-chr3:22997792..23000607,2	MCF-7	breast:
7	chr3:23001996..23003557-chr3:23243034..23245910,2	MCF-7	breast:
8	chr3:22997497..23000412-chr3:23001550..23003702,2	K562	blood:
9	chr3:22770781..22772111-chr3:23001246..23002368,7	MCF-7	breast:
10	chr3:22771477..22772449-chr3:22985846..22986742,2	MCF-7	breast:
11	chr3:22770066..22771939-chr3:22999640..23001789,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182247	chromatin interactions
ENSG00000233153	chromatin interactions

Extended variants
information (count: 1029 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73820489	chr3:22979634-22979635	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73141945	chr3:22979657-22979658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150279643	chr3:22979721-22979722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568116567	chr3:22979740-22979741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192601084	chr3:22979747-22979748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557246423	chr3:22979807-22979808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184591680	chr3:22979808-22979809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373897564	chr3:22979828-22979829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189006652	chr3:22979888-22979889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569634208	chr3:22979890-22979891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557549628	chr3:22979903-22979904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138925680	chr3:22979914-22979915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192602985	chr3:22979938-22979939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555363564	chr3:22979966-22979967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554076020	chr3:22979974-22979975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139466385	chr3:22979997-22979998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529030589	chr3:22980025-22980026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184879512	chr3:22980061-22980062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535686371	chr3:22980121-22980122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34916367	chr3:22980158-22980159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562830237	chr3:22980171-22980172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532967023	chr3:22980173-22980174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535870830	chr3:22980175-22980176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140822637	chr3:22980181-22980182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73820490	chr3:22980208-22980209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144563781	chr3:22980230-22980231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73141948	chr3:22980279-22980280	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138523941	chr3:22980355-22980356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529269703	chr3:22980402-22980403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550838953	chr3:22980476-22980477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569566102	chr3:22980481-22980482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539632023	chr3:22980557-22980558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141689259	chr3:22980566-22980567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74925131	chr3:22980567-22980568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533839718	chr3:22980655-22980656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575595195	chr3:22980665-22980666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555524505	chr3:22980756-22980757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190227934	chr3:22980759-22980760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76468188	chr3:22980761-22980762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556176322	chr3:22980780-22980781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180917792	chr3:22980881-22980882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71048486	chr3:22980885-22980886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544978697	chr3:22980896-22980897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144484492	chr3:22980927-22980928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572222706	chr3:22980979-22980980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527498458	chr3:22981010-22981011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540300247	chr3:22981065-22981066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561873112	chr3:22981075-22981076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541340517	chr3:22981102-22981103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35015765	chr3:22981145-22981146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22976600-22981800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:22978200-22980400	Enhancers	Fetal Brain Male	brain
3	chr3:22978200-22981000	Enhancers	Fetal Stomach	stomach
4	chr3:22978600-22979800	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:22978600-22981000	Enhancers	Fetal Lung	lung
6	chr3:22978800-22981200	Enhancers	Colon Smooth Muscle	Colon
7	chr3:22979000-22980200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:22979000-22980800	Enhancers	Stomach Smooth Muscle	stomach
9	chr3:22979000-22981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:22979400-22980400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:22979800-22980200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:22980200-22980800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr3:22980200-22981000	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:22980400-22981600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:22980800-22981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:22981000-22983800	Weak transcription	Fetal Lung	lung
17	chr3:22981800-22982000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:22983800-22986600	Enhancers	Fetal Lung	lung
19	chr3:22985000-22989200	Weak transcription	Fetal Stomach	stomach
20	chr3:22986600-22992600	Weak transcription	Fetal Lung	lung
21	chr3:22988600-22990200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:22988800-22990000	Enhancers	HSMMtube	muscle
23	chr3:22989000-22990200	Enhancers	Ovary	ovary
24	chr3:22989200-22989600	Enhancers	Fetal Muscle Leg	muscle
25	chr3:22989200-22989600	Enhancers	Fetal Stomach	stomach
26	chr3:22989200-22990000	Enhancers	Colon Smooth Muscle	Colon
27	chr3:22989600-22992600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:22990000-22990600	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:22990200-22992200	Weak transcription	Ovary	ovary
30	chr3:22992200-22994200	Enhancers	Ovary	ovary
31	chr3:22992400-22993800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:22992600-22992800	Enhancers	Fetal Lung	lung
33	chr3:22992600-22994000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:22992600-22994600	Enhancers	Fetal Muscle Leg	muscle
35	chr3:22992800-22993200	Weak transcription	Fetal Lung	lung
36	chr3:22993000-22993800	Enhancers	Brain Germinal Matrix	brain
37	chr3:22993200-22993400	Enhancers	Fetal Lung	lung
38	chr3:22993200-22993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:22993200-22993800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:22993200-22993800	Enhancers	Adipose Nuclei	Adipose
41	chr3:22993400-23000800	Weak transcription	Fetal Lung	lung
42	chr3:22993600-22993800	Enhancers	Brain Cingulate Gyrus	brain
43	chr3:22993600-22993800	Enhancers	Fetal Kidney	kidney
44	chr3:22993800-22997200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:22994400-22994800	Enhancers	Fetal Heart	heart
46	chr3:22997200-22998600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:22997400-23001200	Weak transcription	Aorta	Aorta
48	chr3:23000400-23002000	Enhancers	GM12878-XiMat	blood
49	chr3:23000400-23002000	Enhancers	HUVEC	blood vessel
50	chr3:23000800-23002000	Enhancers	Fetal Lung	lung

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