Variant report

Variant	nsv549266
Chromosome Location	chr1:225495656-225508712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225487478..225490427-chr1:225503792..225505643,2	K562	blood:
2	chr1:225488601..225490317-chr1:225494794..225496298,2	MCF-7	breast:
3	chr1:225506454..225506954-chr1:225625445..225626402,2	MCF-7	breast:
4	chr1:225506556..225507373-chr1:225531091..225531759,2	MCF-7	breast:
5	chr1:225507669..225509816-chr1:225510822..225512373,3	K562	blood:

Extended variants
information (count: 256 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10495236	chr1:225495656-225495657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7524527	chr1:225495697-225495698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs532423970	chr1:225495766-225495767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547638378	chr1:225495767-225495768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141098291	chr1:225495777-225495778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534155854	chr1:225495778-225495779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532699333	chr1:225495897-225495898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555582467	chr1:225495910-225495911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567416958	chr1:225495940-225495941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538084590	chr1:225495956-225495957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369223685	chr1:225496003-225496004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556318041	chr1:225496010-225496011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183261121	chr1:225496015-225496016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538962474	chr1:225496072-225496073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539559685	chr1:225496151-225496152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554407607	chr1:225496155-225496156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571952429	chr1:225496335-225496336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542607319	chr1:225496362-225496363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560862232	chr1:225496440-225496441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377136093	chr1:225496469-225496470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114199364	chr1:225496486-225496487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565095535	chr1:225496518-225496519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188676048	chr1:225496530-225496531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560941461	chr1:225496537-225496538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150301953	chr1:225496600-225496601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1503824	chr1:225496699-225496700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192613716	chr1:225496710-225496711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549823014	chr1:225496746-225496747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138079705	chr1:225496779-225496780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184946777	chr1:225496872-225496873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149544387	chr1:225496886-225496887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144036440	chr1:225496960-225496961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549829190	chr1:225496963-225496964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200437974	chr1:225497048-225497049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77473045	chr1:225497049-225497050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386639865	chr1:225497050-225497051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199660185	chr1:225497051-225497052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199590085	chr1:225497066-225497067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188114661	chr1:225497070-225497071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539178195	chr1:225497097-225497098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532304306	chr1:225497098-225497099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375953820	chr1:225497107-225497108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552202127	chr1:225497143-225497144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191191213	chr1:225497145-225497146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554216438	chr1:225497188-225497189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183790585	chr1:225497223-225497224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202079543	chr1:225497230-225497231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201657449	chr1:225497239-225497240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535901859	chr1:225497319-225497320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554581461	chr1:225497326-225497327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
Breast cancer	17603634	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225488400-225500000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:225500000-225500200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:225503400-225504000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:225503400-225504400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:225505800-225506800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:225506600-225507800	Enhancers	Liver	Liver
7	chr1:225506800-225507200	Enhancers	Fetal Intestine Large	intestine
8	chr1:225506800-225507200	Enhancers	Fetal Kidney	kidney
9	chr1:225506800-225507600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:225507000-225508400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:225507000-225508400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:225507200-225522800	Weak transcription	Fetal Kidney	kidney
13	chr1:225507400-225507600	Enhancers	Psoas Muscle	Psoas
14	chr1:225507400-225507800	Enhancers	Osteobl	bone
15	chr1:225507400-225508000	Enhancers	Adipose Nuclei	Adipose
16	chr1:225507400-225508200	Enhancers	HSMM	muscle
17	chr1:225507600-225508200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr1:225507600-225508200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:225507800-225508000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:225507800-225512200	Weak transcription	Psoas Muscle	Psoas

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