Variant report

Variant	nsv876652
Chromosome Location	chr3:28811329-28947691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:28834848..28836812-chr3:28837084..28838702,2	MCF-7	breast:
2	chr3:28834848..28836812-chr3:28837084..28838702,2	MCF-7	breast:
3	chr3:28895042..28895613-chr3:29806222..29806801,2	MCF-7	breast:
4	chr3:28880991..28883213-chr3:28887661..28890048,2	K562	blood:
5	chr3:28900918..28903802-chr3:28908383..28910061,2	K562	blood:
6	chr3:28860904..28863719-chr3:28864406..28866091,2	MCF-7	breast:
7	chr3:28900918..28903802-chr3:28908383..28910061,2	K562	blood:
8	chr3:28840408..28841018-chr3:29805844..29806402,2	MCF-7	breast:
9	chr3:28880991..28883213-chr3:28887661..28890048,2	K562	blood:
10	chr3:28860904..28863719-chr3:28864406..28866091,2	MCF-7	breast:

No data

Extended variants
information (count: 3480 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3480 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs996646	chr3:28811329-28811330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551444505	chr3:28811338-28811339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571436440	chr3:28811375-28811376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560074795	chr3:28811389-28811390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533912935	chr3:28811437-28811438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547785452	chr3:28811550-28811551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529371403	chr3:28811571-28811572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567824908	chr3:28811576-28811577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9836979	chr3:28811581-28811582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551951306	chr3:28811588-28811589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185633917	chr3:28811599-28811600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9836992	chr3:28811613-28811614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146648431	chr3:28811616-28811617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112749250	chr3:28811619-28811620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182119501	chr3:28811659-28811660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560942866	chr3:28811667-28811668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552150319	chr3:28811700-28811701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574396495	chr3:28811823-28811824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571963194	chr3:28811851-28811852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77443878	chr3:28811861-28811862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563277569	chr3:28811953-28811954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1461815	chr3:28812007-28812008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11920283	chr3:28812010-28812011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187042179	chr3:28812035-28812036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535978120	chr3:28812111-28812112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78424059	chr3:28812131-28812132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192381497	chr3:28812137-28812138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556205930	chr3:28812188-28812189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4560255	chr3:28812259-28812260	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141417003	chr3:28812345-28812346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559263589	chr3:28812350-28812351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs6764223	chr3:28812397-28812398	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs147691894	chr3:28812412-28812413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571997310	chr3:28812417-28812418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112144762	chr3:28812422-28812423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs56706291	chr3:28812423-28812424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201489087	chr3:28812424-28812425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs201086728	chr3:28812427-28812428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs534712459	chr3:28812450-28812451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554408226	chr3:28812468-28812469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558462195	chr3:28812472-28812473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574357011	chr3:28812482-28812483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs61009350	chr3:28812508-28812509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182096337	chr3:28812516-28812517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs6764436	chr3:28812530-28812531	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545553684	chr3:28812531-28812532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs28803849	chr3:28812537-28812538	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6775696	chr3:28812560-28812561	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs115454595	chr3:28812626-28812627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377533552	chr3:28812676-28812677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28798400-28812200	Weak transcription	Aorta	Aorta
2	chr3:28811800-28812200	Weak transcription	Pancreas	Pancrea
3	chr3:28812200-28813800	ZNF genes & repeats	Aorta	Aorta
4	chr3:28818000-28818400	Enhancers	Fetal Intestine Large	intestine
5	chr3:28818400-28818800	Weak transcription	Fetal Intestine Large	intestine
6	chr3:28818800-28819000	Enhancers	Fetal Intestine Large	intestine
7	chr3:28819000-28822800	Weak transcription	Fetal Intestine Large	intestine
8	chr3:28819200-28820000	Enhancers	Fetal Heart	heart
9	chr3:28820000-28822000	Weak transcription	Fetal Heart	heart
10	chr3:28822000-28822200	Enhancers	Fetal Heart	heart
11	chr3:28822000-28823000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:28822200-28822600	Weak transcription	Fetal Heart	heart
13	chr3:28822600-28823000	Enhancers	Fetal Heart	heart
14	chr3:28822800-28823000	Enhancers	Fetal Intestine Large	intestine
15	chr3:28827800-28828000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:28828000-28828200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:28828400-28828800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:28829600-28829800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:28831200-28831400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:28831400-28832800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:28832600-28833000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:28832600-28833000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:28832600-28833800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:28832600-28833800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:28832600-28834000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:28832600-28834000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:28832800-28833200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:28832800-28833200	Enhancers	NHDF-Ad	bronchial
29	chr3:28832800-28833600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:28832800-28833800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:28832800-28833800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:28833000-28833200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:28833000-28833200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:28833000-28833200	Enhancers	HSMMtube	muscle
35	chr3:28833000-28833600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:28833000-28833800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr3:28833000-28833800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:28833000-28833800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:28833000-28833800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:28833200-28833400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:28833200-28833600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:28833200-28833600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:28833200-28833600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr3:28833200-28833600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:28833200-28833600	Flanking Active TSS	HSMMtube	muscle
46	chr3:28833200-28833600	Active TSS	NHDF-Ad	bronchial
47	chr3:28833200-28833800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr3:28833200-28833800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr3:28833200-28833800	Enhancers	Osteobl	bone
50	chr3:28833400-28833600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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