Variant report

Variant	nsv1012023
Chromosome Location	chr2:184846782-184890545
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
2	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
3	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
4	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
5	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
6	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
7	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
8	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
9	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:

No data

Extended variants
information (count: 1086 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1086 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10715455	chr2:184849605-184849606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375832576	chr2:184849632-184849633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5836894	chr2:184849678-184849679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539679094	chr2:184849701-184849702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556362730	chr2:184849799-184849800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569881652	chr2:184849800-184849801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557120128	chr2:184849828-184849829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535586806	chr2:184849866-184849867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576856114	chr2:184849885-184849886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11883620	chr2:184849886-184849887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4330076	chr2:184849908-184849909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541409212	chr2:184849949-184849950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572710280	chr2:184849962-184849963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190834023	chr2:184849993-184849994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146766215	chr2:184851201-184851202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28573799	chr2:184851233-184851234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535132928	chr2:184851234-184851235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551857366	chr2:184851245-184851246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117209177	chr2:184851269-184851270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185645254	chr2:184851272-184851273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115975742	chr2:184851366-184851367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573864528	chr2:184851381-184851382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79828110	chr2:184851406-184851407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553153446	chr2:184851424-184851425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572912532	chr2:184851428-184851429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148485828	chr2:184851457-184851458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116611336	chr2:184851480-184851481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559880269	chr2:184851483-184851484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574936119	chr2:184851486-184851487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543792099	chr2:184851492-184851493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190503188	chr2:184851500-184851501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180865973	chr2:184851501-184851502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549379995	chr2:184851510-184851511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142660666	chr2:184851567-184851568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562437914	chr2:184851571-184851572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151037064	chr2:184851588-184851589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183791293	chr2:184851645-184851646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571757435	chr2:184851769-184851770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140914837	chr2:184851775-184851776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188114242	chr2:184851791-184851792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4322806	chr2:184851796-184851797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181307857	chr2:184851926-184851927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547404602	chr2:184851959-184851960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185368555	chr2:184852099-184852100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199611543	chr2:184852179-184852180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189013938	chr2:184852193-184852194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558267137	chr2:184852241-184852242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574975645	chr2:184852269-184852270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144764417	chr2:184852284-184852285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554566964	chr2:184852291-184852292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184849600-184850000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr2:184851200-184860400	Weak transcription	Fetal Heart	heart
3	chr2:184855200-184856200	Active TSS	GM12878-XiMat	blood
4	chr2:184856200-184857600	Enhancers	GM12878-XiMat	blood
5	chr2:184856400-184858200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:184857000-184858400	Enhancers	Hela-S3	cervix
7	chr2:184857200-184858200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr2:184857400-184857800	Enhancers	HMEC	breast
9	chr2:184857600-184858000	Flanking Active TSS	GM12878-XiMat	blood
10	chr2:184857600-184858800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:184857800-184858200	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:184857800-184858400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:184858000-184858600	Enhancers	Pancreas	Pancrea
14	chr2:184858000-184862800	Enhancers	GM12878-XiMat	blood
15	chr2:184858200-184858400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:184858200-184861800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:184858200-184862800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:184858400-184860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:184858400-184860600	Weak transcription	Hela-S3	cervix
20	chr2:184858400-184861800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:184858600-184862400	Weak transcription	Pancreas	Pancrea
22	chr2:184858800-184860400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:184859200-184859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:184859400-184860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:184859400-184861000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:184859600-184860800	Enhancers	NH-A	brain
27	chr2:184859600-184862400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:184859600-184862600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:184860000-184863000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:184860400-184860600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:184860400-184860600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:184860400-184860600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:184860400-184860800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:184860400-184860800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:184860400-184860800	Enhancers	Fetal Kidney	kidney
36	chr2:184860400-184860800	Enhancers	Fetal Lung	lung
37	chr2:184860400-184861200	Enhancers	Colon Smooth Muscle	Colon
38	chr2:184860400-184861200	Enhancers	Fetal Heart	heart
39	chr2:184860400-184862000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:184860400-184862600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:184860400-184863200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:184860400-184864400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:184860600-184860800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:184860600-184861200	Enhancers	Hela-S3	cervix
45	chr2:184860600-184861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:184860600-184863800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:184860800-184861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:184860800-184861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:184860800-184862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:184860800-184862000	Weak transcription	Fetal Lung	lung

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