Variant report

Variant	nsv526119
Chromosome Location	chr1:213637483-213652148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213640416..213642930-chr1:213643053..213645178,3	K562	blood:
2	chr1:213637145..213640058-chr1:213641140..213642890,2	K562	blood:
3	chr1:213640416..213642930-chr1:213643053..213645178,3	K562	blood:
4	chr1:213637145..213640058-chr1:213641140..213642890,2	K562	blood:

Extended variants
information (count: 443 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553282567	chr1:213638035-213638036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12757168	chr1:213638079-213638080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571808746	chr1:213638123-213638124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538913058	chr1:213638133-213638134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556948087	chr1:213638134-213638135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139113928	chr1:213638177-213638178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542793732	chr1:213638193-213638194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189296189	chr1:213638215-213638216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532115256	chr1:213638218-213638219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572979598	chr1:213638222-213638223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540454148	chr1:213638225-213638226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565039087	chr1:213638239-213638240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181290542	chr1:213638262-213638263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551850051	chr1:213638266-213638267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544470857	chr1:213638334-213638335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565388511	chr1:213638341-213638342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536208515	chr1:213638350-213638351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554287921	chr1:213638351-213638352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562392241	chr1:213638380-213638381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529684311	chr1:213638432-213638433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6700506	chr1:213638442-213638443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143730257	chr1:213638522-213638523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527370525	chr1:213638523-213638524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546808846	chr1:213638570-213638571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548725693	chr1:213638591-213638592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571469513	chr1:213638668-213638669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112589880	chr1:213638709-213638710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76619127	chr1:213638724-213638725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374817608	chr1:213638732-213638733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550851298	chr1:213638739-213638740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6667442	chr1:213638762-213638763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs557434400	chr1:213638786-213638787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201002839	chr1:213638849-213638850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148085347	chr1:213638975-213638976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573301754	chr1:213638998-213638999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570857191	chr1:213639019-213639020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186413695	chr1:213639070-213639071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558787484	chr1:213639142-213639143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577109636	chr1:213639194-213639195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544559063	chr1:213639229-213639230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72551199	chr1:213639233-213639234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs320479	chr1:213639234-213639235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189146087	chr1:213639258-213639259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141859972	chr1:213639270-213639271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181550779	chr1:213639274-213639275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527395549	chr1:213639346-213639347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150155796	chr1:213639356-213639357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565176694	chr1:213639376-213639377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141709672	chr1:213639438-213639439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577510251	chr1:213639448-213639449	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213638000-213640000	Enhancers	NHEK	skin
2	chr1:213638200-213639000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:213638200-213639400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:213638200-213639400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:213638200-213640000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:213638200-213640200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:213638400-213638800	Enhancers	HMEC	breast
8	chr1:213639000-213639800	Enhancers	Placenta	Placenta
9	chr1:213640000-213649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:213645200-213645400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:213645200-213645800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:213645200-213645800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:213645200-213646400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:213645400-213646400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:213645400-213646400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:213645800-213646000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:213645800-213646000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:213645800-213646600	Enhancers	HepG2	liver
19	chr1:213645800-213647200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:213645800-213649800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:213646200-213646800	Enhancers	Fetal Heart	heart
22	chr1:213646200-213647200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:213646200-213647200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:213646400-213647200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:213646400-213647400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:213646400-213647400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:213646600-213647200	Weak transcription	HepG2	liver
28	chr1:213646600-213648000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:213646800-213647000	Flanking Active TSS	Fetal Heart	heart
30	chr1:213646800-213648000	Enhancers	Right Ventricle	heart
31	chr1:213647000-213647200	Enhancers	Fetal Heart	heart
32	chr1:213647200-213647400	Flanking Active TSS	Fetal Heart	heart
33	chr1:213647200-213647400	Enhancers	HepG2	liver
34	chr1:213647200-213647600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:213647200-213647600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:213647200-213647600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:213647200-213647600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:213647200-213647600	Enhancers	Psoas Muscle	Psoas
39	chr1:213647200-213647800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:213647200-213647800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:213647200-213647800	Enhancers	Fetal Lung	lung
42	chr1:213647200-213647800	Enhancers	Left Ventricle	heart
43	chr1:213647200-213647800	Enhancers	Ovary	ovary
44	chr1:213647200-213647800	Enhancers	Pancreas	Pancrea
45	chr1:213647200-213647800	Enhancers	Right Atrium	heart
46	chr1:213647200-213648000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:213647200-213648800	Enhancers	Fetal Muscle Leg	muscle
48	chr1:213647400-213647600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr1:213647400-213647800	Enhancers	Brain Anterior Caudate	brain
50	chr1:213647400-213647800	Enhancers	Fetal Muscle Trunk	muscle

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