Variant report

Variant	nsv978955
Chromosome Location	chr2:183764044-183768268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183767158..183769431-chr2:183778659..183782092,3	K562	blood:
2	chr2:183765609..183768304-chr2:183794647..183796212,2	K562	blood:
3	chr2:183759211..183762247-chr2:183762468..183766311,3	K562	blood:
4	chr2:183757338..183762208-chr2:183763229..183766079,6	K562	blood:
5	chr2:183700483..183702944-chr2:183767110..183769629,2	K562	blood:
6	chr2:183764300..183766706-chr2:183778634..183780515,2	MCF-7	breast:
7	chr2:183758074..183761061-chr2:183762442..183764748,3	MCF-7	breast:

Extended variants
information (count: 162 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377736781	chr2:183764076-183764077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146627200	chr2:183764087-183764088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561967112	chr2:183764098-183764099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527500012	chr2:183764101-183764102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188614172	chr2:183764112-183764113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34596916	chr2:183764129-183764130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192468234	chr2:183764136-183764137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76920560	chr2:183764147-183764148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532929187	chr2:183764204-183764205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549830802	chr2:183764220-183764221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377552273	chr2:183764226-183764227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111426743	chr2:183764265-183764266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569752251	chr2:183764346-183764347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535584565	chr2:183764367-183764368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375221170	chr2:183764382-183764383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139805631	chr2:183764399-183764400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182551718	chr2:183764410-183764411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568592569	chr2:183764537-183764538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534137168	chr2:183764554-183764555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554409286	chr2:183764620-183764621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577485894	chr2:183764623-183764624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538998933	chr2:183764636-183764637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140107218	chr2:183764648-183764649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150305831	chr2:183764709-183764710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4666598	chr2:183764723-183764724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs563759889	chr2:183764739-183764740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138735762	chr2:183764765-183764766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187967322	chr2:183764775-183764776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562051977	chr2:183764848-183764849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191609233	chr2:183764854-183764855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116226562	chr2:183764886-183764887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72900775	chr2:183764907-183764908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4666599	chr2:183764930-183764931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149071587	chr2:183764935-183764936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182405246	chr2:183765004-183765005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528898183	chr2:183765008-183765009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4666600	chr2:183765016-183765017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs187034589	chr2:183765017-183765018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544110240	chr2:183765019-183765020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145862132	chr2:183765097-183765098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191924822	chr2:183765101-183765102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184488078	chr2:183765107-183765108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190382131	chr2:183765168-183765169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138837870	chr2:183765182-183765183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556444382	chr2:183765210-183765211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557463370	chr2:183765225-183765226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386653354	chr2:183765231-183765232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114832533	chr2:183765232-183765233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370854427	chr2:183765236-183765237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555804303	chr2:183765237-183765238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183752400-183772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:183755000-183772200	Weak transcription	HSMM	muscle
3	chr2:183757000-183773800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:183758800-183771600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:183759000-183772000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:183759000-183774000	Weak transcription	Left Ventricle	heart
8	chr2:183759200-183766600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:183759200-183772200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:183759200-183775000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:183759200-183775200	Weak transcription	Pancreas	Pancrea
12	chr2:183759600-183774400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:183759600-183777000	Weak transcription	HSMMtube	muscle
14	chr2:183759800-183771800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:183759800-183774000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:183760000-183774000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:183760200-183769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:183761000-183768600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:183762000-183778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:183762200-183774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:183762400-183772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:183762400-183775000	Weak transcription	Osteobl	bone
23	chr2:183762400-183775200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:183762600-183775800	Weak transcription	NHDF-Ad	bronchial
25	chr2:183762600-183778000	Weak transcription	NHLF	lung
26	chr2:183762800-183772000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:183763600-183765400	Enhancers	Placenta	Placenta
28	chr2:183764000-183766600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:183764200-183772200	Weak transcription	Fetal Stomach	stomach
30	chr2:183764600-183765200	Enhancers	HepG2	liver
31	chr2:183764800-183765000	Enhancers	Esophagus	oesophagus
32	chr2:183765000-183774400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:183765000-183774800	Weak transcription	Esophagus	oesophagus
34	chr2:183765200-183767200	Weak transcription	HepG2	liver
35	chr2:183765200-183792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:183765400-183767600	Weak transcription	Placenta	Placenta
37	chr2:183765600-183805200	Weak transcription	Gastric	stomach
38	chr2:183766400-183772000	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:183766600-183766800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:183766600-183766800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:183766600-183766800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:183766600-183766800	Enhancers	Ovary	ovary
43	chr2:183766600-183766800	Enhancers	Psoas Muscle	Psoas
44	chr2:183766600-183766800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr2:183766600-183774000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:183766800-183769600	Weak transcription	Ovary	ovary
47	chr2:183766800-183772000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:183766800-183772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:183766800-183772000	Weak transcription	Lung	lung
50	chr2:183766800-183772000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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