Variant report

Variant	nsv521940
Chromosome Location	chr5:125049170-125092500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:125052667..125055042-chr5:125057231..125059249,2	MCF-7	breast:
2	chr5:125058537..125060968-chr5:125086737..125088730,2	K562	blood:
3	chr5:125052667..125055042-chr5:125057231..125059249,2	MCF-7	breast:
4	chr5:125058537..125060968-chr5:125086737..125088730,2	K562	blood:

Extended variants
information (count: 1057 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1057 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7735956	chr5:125049170-125049171	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141216430	chr5:125049192-125049193	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181158597	chr5:125049193-125049194	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574048205	chr5:125049202-125049203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538500461	chr5:125049217-125049218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556296937	chr5:125049357-125049358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536351008	chr5:125049363-125049364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574733057	chr5:125049371-125049372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541959131	chr5:125049396-125049397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386692075	chr5:125049435-125049436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57052071	chr5:125049442-125049443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545627410	chr5:125049519-125049520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563917979	chr5:125049520-125049521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114952476	chr5:125049531-125049532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73782815	chr5:125049541-125049542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369304624	chr5:125049546-125049547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561541329	chr5:125049575-125049576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17550756	chr5:125049585-125049586	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187119056	chr5:125049586-125049587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191496797	chr5:125049600-125049601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533034002	chr5:125049621-125049622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138818225	chr5:125049759-125049760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368882070	chr5:125049773-125049774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141815023	chr5:125049814-125049815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184238969	chr5:125049866-125049867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550402429	chr5:125049868-125049869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568656068	chr5:125049897-125049898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565163805	chr5:125049916-125049917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78851441	chr5:125049929-125049930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553734736	chr5:125049958-125049959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572234872	chr5:125049976-125049977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539519838	chr5:125049994-125049995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548320655	chr5:125050063-125050064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143617596	chr5:125050102-125050103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543357814	chr5:125050196-125050197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187153502	chr5:125050207-125050208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4836208	chr5:125050214-125050215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541065533	chr5:125050241-125050242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113533072	chr5:125050374-125050375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533073175	chr5:125050418-125050419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551453266	chr5:125050425-125050426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9327365	chr5:125050446-125050447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112105933	chr5:125050480-125050481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190745045	chr5:125050515-125050516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9327366	chr5:125050624-125050625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182220845	chr5:125050674-125050675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547409701	chr5:125050691-125050692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529757846	chr5:125050746-125050747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6863788	chr5:125050774-125050775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563447238	chr5:125050790-125050791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:125021800-125055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:125045000-125050000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:125048200-125049400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:125048200-125049400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:125048600-125049200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:125048600-125049400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:125048600-125049400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:125048600-125049600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:125048800-125049200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:125048800-125049200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:125048800-125049200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:125048800-125049200	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:125048800-125049400	Enhancers	Brain Germinal Matrix	brain
14	chr5:125048800-125049400	Enhancers	Brain Substantia Nigra	brain
15	chr5:125049000-125049200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:125049000-125049200	Enhancers	Brain Angular Gyrus	brain
17	chr5:125049000-125049200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:125049000-125049200	ZNF genes & repeats	Pancreas	Pancrea
19	chr5:125049000-125049800	Enhancers	Gastric	stomach
20	chr5:125049000-125052600	Weak transcription	HepG2	liver
21	chr5:125049200-125049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:125049200-125053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:125049200-125053800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:125049200-125054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:125049200-125055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:125049400-125051000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:125049400-125051200	Weak transcription	Brain Germinal Matrix	brain
28	chr5:125049400-125051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:125049400-125051600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:125049400-125052600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:125049400-125055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:125049600-125051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:125050000-125056600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:125051000-125053400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:125051000-125053600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:125051000-125057200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:125051200-125052400	Enhancers	Brain Germinal Matrix	brain
38	chr5:125051600-125053200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:125051600-125054200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:125051600-125055400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:125052000-125052400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:125052000-125052400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:125052000-125054000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:125052200-125053600	Enhancers	HMEC	breast
45	chr5:125052200-125053600	Enhancers	NH-A	brain
46	chr5:125052400-125055600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:125052600-125053200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:125052600-125053400	Enhancers	Osteobl	bone
49	chr5:125052600-125055200	Enhancers	HepG2	liver
50	chr5:125052800-125053400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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