Variant report

Variant	nsv591936
Chromosome Location	chr3:145548718-145608291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145558279..145560976-chr3:145566285..145567836,2	MCF-7	breast:
2	chr3:145604775..145606383-chr3:145616815..145618517,2	MCF-7	breast:
3	chr3:145558279..145560976-chr3:145566285..145567836,2	MCF-7	breast:

Extended variants
information (count: 1318 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1318 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2055990	chr3:145559802-145559803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186615746	chr3:145559804-145559805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144269264	chr3:145559833-145559834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201663972	chr3:145559850-145559851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190714224	chr3:145559889-145559890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116397161	chr3:145559899-145559900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2055991	chr3:145559923-145559924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551121502	chr3:145559968-145559969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148869746	chr3:145560002-145560003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373489582	chr3:145560004-145560005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2055992	chr3:145560005-145560006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2055993	chr3:145560061-145560062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548399489	chr3:145560070-145560071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560093054	chr3:145560079-145560080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375155419	chr3:145560121-145560122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566615465	chr3:145560223-145560224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533530550	chr3:145560239-145560240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368184423	chr3:145560245-145560246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150233628	chr3:145560256-145560257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371835843	chr3:145560261-145560262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533852472	chr3:145560305-145560306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558781780	chr3:145560327-145560328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570376031	chr3:145560336-145560337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537428250	chr3:145560363-145560364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561996926	chr3:145560364-145560365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545255887	chr3:145560427-145560428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563934733	chr3:145560453-145560454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574186948	chr3:145560491-145560492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3976500	chr3:145560518-145560519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151201294	chr3:145560542-145560543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187747005	chr3:145560546-145560547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57827179	chr3:145560585-145560586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140273766	chr3:145560597-145560598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565549208	chr3:145560604-145560605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2055994	chr3:145560623-145560624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77300301	chr3:145560628-145560629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563014284	chr3:145560640-145560641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74322504	chr3:145560653-145560654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs398062892	chr3:145560655-145560656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530220665	chr3:145560656-145560657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374674161	chr3:145560665-145560666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548623252	chr3:145560721-145560722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190734136	chr3:145560746-145560747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527452222	chr3:145560760-145560761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76668731	chr3:145560774-145560775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570711650	chr3:145560797-145560798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537488733	chr3:145560820-145560821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555737909	chr3:145560864-145560865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73005683	chr3:145560881-145560882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs56394345	chr3:145560902-145560903	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145559800-145561600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:145564600-145565600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:145567000-145567800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:145567800-145575800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:145575600-145576400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:145575800-145576200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:145576200-145583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:145576400-145577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:145577600-145577800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:145581000-145581600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:145581000-145583600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:145581400-145582800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:145581400-145582800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:145581600-145583200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:145582000-145582600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:145582000-145582800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:145582000-145583400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:145582200-145582600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:145582600-145587600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:145582800-145583400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:145583200-145583600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:145583200-145583600	Enhancers	Brain Hippocampus Middle	brain
23	chr3:145583200-145583800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:145583200-145583800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:145583200-145583800	Enhancers	Fetal Brain Female	brain
26	chr3:145583200-145584000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:145583200-145584000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:145583400-145583600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:145583400-145583800	Enhancers	Colon Smooth Muscle	Colon
30	chr3:145583400-145583800	Enhancers	Fetal Lung	lung
31	chr3:145584000-145587800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:145587600-145588000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:145587600-145588200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:145587800-145588400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:145597600-145598000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:145597600-145598000	Enhancers	Lung	lung
37	chr3:145598000-145599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:145599800-145601200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:145600000-145600800	Enhancers	NHDF-Ad	bronchial
40	chr3:145600200-145600800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:145600200-145600800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:145600200-145600800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:145600400-145600800	Enhancers	Osteobl	bone
44	chr3:145600600-145600800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:145600800-145601800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:145600800-145603800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:145601800-145602000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:145603800-145604600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:145605200-145606800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:145606800-145607200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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