Variant report

Variant	nsv1007903
Chromosome Location	chr3:157351662-157383667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156251868..156254547-chr3:157369617..157372323,2	MCF-7	breast:
2	chr3:157377388..157380037-chr3:157385392..157387460,2	K562	blood:
3	chr3:157338817..157341754-chr3:157350629..157353502,2	K562	blood:
4	chr3:157347392..157349679-chr3:157353098..157355066,2	MCF-7	breast:
5	chr3:157379013..157381091-chr3:157394299..157396665,2	MCF-7	breast:
6	chr3:157338817..157342476-chr3:157350629..157354187,3	K562	blood:

Extended variants
information (count: 517 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187059621	chr3:157351666-157351667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112386969	chr3:157351683-157351684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576955108	chr3:157351753-157351754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540985055	chr3:157351755-157351756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4330223	chr3:157351756-157351757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527692837	chr3:157351810-157351811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571118597	chr3:157351813-157351814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191247781	chr3:157351838-157351839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374528791	chr3:157351867-157351868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182997204	chr3:157352007-157352008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2316165	chr3:157352044-157352045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs3077657	chr3:157352059-157352060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533369031	chr3:157352064-157352065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs5853792	chr3:157352065-157352066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2316166	chr3:157352071-157352072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2316167	chr3:157352092-157352093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs143921678	chr3:157352101-157352102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2316168	chr3:157352110-157352111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs565991923	chr3:157352128-157352129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2316169	chr3:157352143-157352144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554192057	chr3:157352217-157352218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569289227	chr3:157352236-157352237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559957340	chr3:157352245-157352246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546650882	chr3:157352286-157352287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558588867	chr3:157352313-157352314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531479833	chr3:157352324-157352325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576988011	chr3:157352331-157352332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541176425	chr3:157352333-157352334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148639227	chr3:157352361-157352362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574828647	chr3:157352433-157352434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142046667	chr3:157352451-157352452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561299504	chr3:157352461-157352462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531695384	chr3:157352495-157352496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188020128	chr3:157352497-157352498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543572346	chr3:157352507-157352508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565332167	chr3:157352531-157352532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151147461	chr3:157352574-157352575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532830059	chr3:157352589-157352590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565931498	chr3:157352690-157352691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530355225	chr3:157352704-157352705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548459624	chr3:157352727-157352728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569328033	chr3:157352735-157352736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2316170	chr3:157352736-157352737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192244844	chr3:157352753-157352754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558375148	chr3:157352759-157352760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570490882	chr3:157352785-157352786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551333794	chr3:157352799-157352800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185790568	chr3:157352840-157352841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79247226	chr3:157352861-157352862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371609719	chr3:157352968-157352969	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157349800-157351800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:157350800-157353000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:157351400-157351800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:157351800-157352000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:157356800-157357800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:157357400-157358200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:157357600-157358200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:157357600-157358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:157357600-157358200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:157357800-157358200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:157358200-157359400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:157359400-157361200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:157361200-157362200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:157362200-157363400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:157363400-157364200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:157364200-157364800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:157367400-157369400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:157367800-157368600	Enhancers	Adipose Nuclei	Adipose
19	chr3:157377600-157378600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:157378400-157379600	Enhancers	Adipose Nuclei	Adipose
21	chr3:157379200-157379800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:157379400-157380400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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