Variant report

Variant	nsv876816
Chromosome Location	chr3:56422771-56457705
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	chr3:56434014..56436602-chr3:56437198..56438975,2	K562	blood:
2	chr3:56423546..56425324-chr3:56452341..56454544,2	K562	blood:
3	chr3:56434039..56436602-chr3:56437329..56438975,2	K562	blood:
4	chr3:56423546..56425324-chr3:56452341..56454544,2	K562	blood:
5	chr3:56431485..56433512-chr3:56441532..56444158,2	MCF-7	breast:
6	chr3:56439625..56442094-chr3:56460240..56463198,2	K562	blood:
7	chr3:56434039..56436602-chr3:56437329..56438975,2	K562	blood:
8	chr3:56431485..56433512-chr3:56441532..56444158,2	MCF-7	breast:
9	chr3:56434014..56436602-chr3:56437198..56438975,2	K562	blood:

No data

Extended variants
information (count: 1300 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1300 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6802458	chr3:56422771-56422772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558560690	chr3:56422817-56422818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566008216	chr3:56422860-56422861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535030123	chr3:56422886-56422887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4974210	chr3:56422906-56422907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552948580	chr3:56422914-56422915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543457698	chr3:56422950-56422951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79699141	chr3:56422954-56422955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191661974	chr3:56422999-56423000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199995362	chr3:56423047-56423048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183887720	chr3:56423080-56423081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148087902	chr3:56423109-56423110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528388536	chr3:56423127-56423128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114330663	chr3:56423138-56423139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11707219	chr3:56423146-56423147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530643663	chr3:56423167-56423168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188947843	chr3:56423169-56423170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570033308	chr3:56423170-56423171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533544423	chr3:56423171-56423172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532495683	chr3:56423174-56423175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552149071	chr3:56423199-56423200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117885689	chr3:56423214-56423215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534945275	chr3:56423223-56423224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558387947	chr3:56423273-56423274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189779795	chr3:56423418-56423419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374033570	chr3:56423435-56423436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568610762	chr3:56423455-56423456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537233428	chr3:56423615-56423616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73075865	chr3:56423659-56423660	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566338361	chr3:56423668-56423669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577011253	chr3:56423732-56423733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545962578	chr3:56423759-56423760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10510785	chr3:56423761-56423762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572881178	chr3:56423812-56423813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141772868	chr3:56423819-56423820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544694957	chr3:56423826-56423827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542082356	chr3:56423859-56423860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182149391	chr3:56423862-56423863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556062116	chr3:56423891-56423892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575526097	chr3:56423900-56423901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146035436	chr3:56423970-56423971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139990907	chr3:56423977-56423978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532459678	chr3:56424062-56424063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199905720	chr3:56424135-56424136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35209674	chr3:56424136-56424137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115906647	chr3:56424154-56424155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73075866	chr3:56424202-56424203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528488348	chr3:56424242-56424243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4246674	chr3:56424255-56424256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535238540	chr3:56424372-56424373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56422400-56427800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:56422600-56423800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr3:56423400-56423600	Enhancers	Adipose Nuclei	Adipose
4	chr3:56423400-56423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:56423400-56424000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:56423600-56427400	Weak transcription	Adipose Nuclei	Adipose
7	chr3:56424000-56447400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:56426800-56428200	Enhancers	Ovary	ovary
9	chr3:56427400-56428200	Enhancers	Adipose Nuclei	Adipose
10	chr3:56427800-56428200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:56427800-56428200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:56428200-56429600	Weak transcription	Adipose Nuclei	Adipose
13	chr3:56428200-56429600	Weak transcription	Ovary	ovary
14	chr3:56428200-56433200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:56429600-56430400	Enhancers	Adipose Nuclei	Adipose
16	chr3:56429800-56430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:56430000-56430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:56430800-56431200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:56431600-56433000	Weak transcription	Ovary	ovary
20	chr3:56431800-56432000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:56432000-56432600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:56432600-56433000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:56432600-56433400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr3:56433000-56433200	Enhancers	Ovary	ovary
25	chr3:56433000-56433600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:56433200-56433400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:56433200-56433600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:56433200-56433600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:56433200-56434000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:56433200-56434000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr3:56433200-56434200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:56433200-56435000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:56433400-56436400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:56433600-56447800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:56434000-56447800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:56434800-56442800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:56435000-56435200	Enhancers	Ovary	ovary
38	chr3:56436400-56436600	Enhancers	Pancreas	Pancrea
39	chr3:56436600-56457400	Weak transcription	Pancreas	Pancrea
40	chr3:56441200-56448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:56442200-56447200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:56442800-56443000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:56442800-56444000	Enhancers	Fetal Brain Male	brain
44	chr3:56443000-56443200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr3:56443000-56443200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:56443200-56447200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:56443200-56449800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:56444000-56445200	Weak transcription	Fetal Brain Male	brain
49	chr3:56444400-56447800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:56445200-56446000	Enhancers	Fetal Brain Male	brain

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