Variant report

Variant	nsv10254
Chromosome Location	chr3:24661741-24666296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24653142..24655927-chr3:24664996..24667138,2	MCF-7	breast:
2	chr3:24654929..24659787-chr3:24660015..24665677,5	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554251001	chr3:24661745-24661746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574403382	chr3:24661756-24661757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563601700	chr3:24661798-24661799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530808981	chr3:24661800-24661801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59446401	chr3:24661809-24661810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570633667	chr3:24661811-24661812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9842833	chr3:24661888-24661889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148718697	chr3:24661897-24661898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181215462	chr3:24661930-24661931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535482463	chr3:24661939-24661940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556663583	chr3:24661941-24661942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78416610	chr3:24661951-24661952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568889123	chr3:24661981-24661982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112941897	chr3:24662021-24662022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115142981	chr3:24662032-24662033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56218990	chr3:24662056-24662057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541256159	chr3:24662083-24662084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553478453	chr3:24662166-24662167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112441782	chr3:24662181-24662182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139292568	chr3:24662213-24662214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17014979	chr3:24662241-24662242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577129881	chr3:24662259-24662260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184924156	chr3:24662274-24662275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546072676	chr3:24662481-24662482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564284234	chr3:24662482-24662483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7625506	chr3:24662556-24662557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546477223	chr3:24662569-24662570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6767114	chr3:24662611-24662612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568177692	chr3:24662656-24662657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528967187	chr3:24662668-24662669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73042404	chr3:24662714-24662715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116650812	chr3:24662717-24662718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188220558	chr3:24662726-24662727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558860367	chr3:24662768-24662769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73820024	chr3:24662813-24662814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73042405	chr3:24662818-24662819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116422288	chr3:24662845-24662846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73042407	chr3:24662854-24662855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs75515441	chr3:24662877-24662878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557395850	chr3:24662887-24662888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541955528	chr3:24662915-24662916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116827509	chr3:24662918-24662919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140201731	chr3:24662954-24662955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540457175	chr3:24662975-24662976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114811317	chr3:24662981-24662982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143898003	chr3:24663045-24663046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78390722	chr3:24663070-24663071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149034953	chr3:24663084-24663085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532810493	chr3:24663100-24663101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569373694	chr3:24663118-24663119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24658800-24667000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:24660800-24664400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:24662800-24663600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:24662800-24664000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:24662800-24665400	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:24662800-24666000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:24663600-24664800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:24663600-24665600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:24663800-24666400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:24664400-24664600	Enhancers	Fetal Intestine Small	intestine
11	chr3:24664600-24665000	Weak transcription	Fetal Intestine Small	intestine
12	chr3:24664800-24666000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:24664800-24666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:24665000-24665400	Enhancers	Fetal Intestine Small	intestine
15	chr3:24665000-24665600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:24665000-24665800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:24665600-24665800	Bivalent Enhancer	Fetal Kidney	kidney
18	chr3:24665600-24666200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:24666200-24667200	Weak transcription	H9 Cell Line	embryonic stem cell

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