Variant report

Variant	nsv872733
Chromosome Location	chr1:189662841-189733979
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	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
2	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
3	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
4	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
5	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
6	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
7	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
8	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
9	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
10	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
11	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:

No data

Extended variants
information (count: 247 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565363707	chr1:189665451-189665452	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs71637210	chr1:189665493-189665494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556397237	chr1:189665518-189665519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544343	chr1:189665522-189665523	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537646540	chr1:189665528-189665529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185679508	chr1:189665553-189665554	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574832754	chr1:189665580-189665581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545162	chr1:189665593-189665594	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116529774	chr1:189665611-189665612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147145933	chr1:189665636-189665637	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191912164	chr1:189665669-189665670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140258929	chr1:189665670-189665671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552712408	chr1:189665671-189665672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs567919915	chr1:189665672-189665673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374462923	chr1:189665675-189665676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201882550	chr1:189665678-189665679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376459593	chr1:189665680-189665681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561940220	chr1:189665681-189665682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528003843	chr1:189665685-189665686	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs36063163	chr1:189665691-189665692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs547667117	chr1:189665696-189665697	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs374028968	chr1:189665740-189665741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571090103	chr1:189665749-189665750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533192910	chr1:189665754-189665755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs115026705	chr1:189665783-189665784	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144313629	chr1:189665784-189665785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114075430	chr1:189665826-189665827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151156612	chr1:189665847-189665848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs568245432	chr1:189665870-189665871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533940901	chr1:189665880-189665881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs116358703	chr1:189665886-189665887	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs61819063	chr1:189665918-189665919	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530147485	chr1:189665954-189665955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140574817	chr1:189666023-189666024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556116394	chr1:189666043-189666044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535143174	chr1:189666082-189666083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575129925	chr1:189666086-189666087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189246280	chr1:189666087-189666088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527892728	chr1:189666093-189666094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192235017	chr1:189666116-189666117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs61819064	chr1:189666143-189666144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182421759	chr1:189666212-189666213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs533634458	chr1:189666213-189666214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116130693	chr1:189666238-189666239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563679487	chr1:189666241-189666242	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529444397	chr1:189666251-189666252	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115089702	chr1:189666255-189666256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573544214	chr1:189666329-189666330	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540949297	chr1:189666341-189666342	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112548603	chr1:189666352-189666353	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189665400-189666400	Active TSS	Placenta	Placenta
2	chr1:189666400-189666600	Flanking Active TSS	Placenta	Placenta
3	chr1:189675200-189676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:189678000-189678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:189678000-189678400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:189688000-189688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:189720600-189720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:189720800-189721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:189721600-189722400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:189721600-189722600	Enhancers	Fetal Heart	heart
11	chr1:189721600-189723000	Enhancers	Fetal Lung	lung
12	chr1:189721800-189722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:189722000-189722600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:189722000-189722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:189722400-189723000	Enhancers	Hela-S3	cervix
16	chr1:189722600-189722800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:189733200-189734200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:189733400-189734000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:189733400-189734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:189733400-189734400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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