Variant report

Variant	nsv997475
Chromosome Location	chr2:184828307-184993186
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:184975933..184978535-chr2:184980820..184983519,2	K562	blood:
2	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
3	chr2:184975933..184978535-chr2:184980820..184983519,2	K562	blood:
4	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
5	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
6	chr2:184873535..184875305-chr2:184876695..184878448,2	K562	blood:
7	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
8	chr2:184912047..184914339-chr2:184920251..184922301,2	K562	blood:
9	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:
10	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
11	chr2:184945352..184948349-chr2:184948501..184950995,2	K562	blood:
12	chr2:184889860..184892269-chr2:184894342..184896559,2	K562	blood:
13	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
14	chr2:184912047..184914339-chr2:184920251..184922301,2	K562	blood:
15	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:
16	chr2:184940537..184943180-chr2:184944058..184946845,2	MCF-7	breast:
17	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
18	chr2:184859213..184861136-chr2:184869281..184871300,2	MCF-7	breast:
19	chr2:184886126..184889062-chr2:184890662..184893276,2	K562	blood:
20	chr2:184941659..184944360-chr2:184947722..184949750,2	K562	blood:
21	chr2:184890086..184891661-chr2:184893908..184896038,2	MCF-7	breast:
22	chr2:184850093..184852238-chr2:184873808..184876067,2	K562	blood:

No data

Extended variants
information (count: 2903 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2903 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534878729	chr2:184828400-184828401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10497642	chr2:184828432-184828433	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs571493520	chr2:184828455-184828456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537225928	chr2:184828524-184828525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562115461	chr2:184828534-184828535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112564644	chr2:184828598-184828599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34974614	chr2:184828630-184828631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376574049	chr2:184828631-184828632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551079968	chr2:184828684-184828685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186784463	chr2:184828698-184828699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552893529	chr2:184828727-184828728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371106020	chr2:184828767-184828768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369522057	chr2:184828802-184828803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377612269	chr2:184828856-184828857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572663986	chr2:184828896-184828897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541682019	chr2:184828908-184828909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564604668	chr2:184828968-184828969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114969400	chr2:184829036-184829037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543601505	chr2:184829045-184829046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374582869	chr2:184829076-184829077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78648728	chr2:184829079-184829080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374064139	chr2:184829141-184829142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79206334	chr2:184829147-184829148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189061384	chr2:184829151-184829152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140105645	chr2:184829153-184829154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143912801	chr2:184829158-184829159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111326501	chr2:184829161-184829162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76770703	chr2:184829172-184829173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150615598	chr2:184829186-184829187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571554936	chr2:184829200-184829201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546766966	chr2:184829231-184829232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146876423	chr2:184829233-184829234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16825297	chr2:184829258-184829259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10177727	chr2:184829274-184829275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544979740	chr2:184829313-184829314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552714996	chr2:184829327-184829328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149045821	chr2:184829346-184829347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555131267	chr2:184829369-184829370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558070809	chr2:184829377-184829378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59077350	chr2:184829390-184829391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80251082	chr2:184829400-184829401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67080969	chr2:184829402-184829403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543615822	chr2:184829408-184829409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557095225	chr2:184829428-184829429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573814084	chr2:184829530-184829531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543081704	chr2:184829545-184829546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114457257	chr2:184829648-184829649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143016316	chr2:184829650-184829651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151133566	chr2:184829663-184829664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565179244	chr2:184829676-184829677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184828400-184828800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr2:184828600-184829200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:184829200-184829800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:184830000-184830200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr2:184830200-184830400	Enhancers	Pancreas	Pancrea
6	chr2:184830600-184832600	Weak transcription	Pancreas	Pancrea
7	chr2:184832600-184832800	Enhancers	Pancreas	Pancrea
8	chr2:184849600-184850000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:184851200-184860400	Weak transcription	Fetal Heart	heart
10	chr2:184855200-184856200	Active TSS	GM12878-XiMat	blood
11	chr2:184856200-184857600	Enhancers	GM12878-XiMat	blood
12	chr2:184856400-184858200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:184857000-184858400	Enhancers	Hela-S3	cervix
14	chr2:184857200-184858200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:184857400-184857800	Enhancers	HMEC	breast
16	chr2:184857600-184858000	Flanking Active TSS	GM12878-XiMat	blood
17	chr2:184857600-184858800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:184857800-184858200	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:184857800-184858400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:184858000-184858600	Enhancers	Pancreas	Pancrea
21	chr2:184858000-184862800	Enhancers	GM12878-XiMat	blood
22	chr2:184858200-184858400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:184858200-184861800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:184858200-184862800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:184858400-184860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:184858400-184860600	Weak transcription	Hela-S3	cervix
27	chr2:184858400-184861800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:184858600-184862400	Weak transcription	Pancreas	Pancrea
29	chr2:184858800-184860400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:184859200-184859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:184859400-184860400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:184859400-184861000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:184859600-184860800	Enhancers	NH-A	brain
34	chr2:184859600-184862400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:184859600-184862600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:184860000-184863000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:184860400-184860600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:184860400-184860600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:184860400-184860600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:184860400-184860800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:184860400-184860800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:184860400-184860800	Enhancers	Fetal Kidney	kidney
43	chr2:184860400-184860800	Enhancers	Fetal Lung	lung
44	chr2:184860400-184861200	Enhancers	Colon Smooth Muscle	Colon
45	chr2:184860400-184861200	Enhancers	Fetal Heart	heart
46	chr2:184860400-184862000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:184860400-184862600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:184860400-184863200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:184860400-184864400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:184860600-184860800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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