Variant report

Variant	nsv589953
Chromosome Location	chr3:24909003-25004804
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24980900..24983100-chr3:24983885..24986505,2	K562	blood:
2	chr3:24971555..24974140-chr3:26540634..26543140,2	K562	blood:
3	chr3:24980900..24983100-chr3:24983885..24986505,2	K562	blood:
4	chr3:24999490..25001286-chr3:25005454..25007613,2	K562	blood:
5	chr3:24976191..24978816-chr3:24982389..24985346,2	K562	blood:
6	chr3:24976922..24979133-chr3:24980723..24982726,2	K562	blood:
7	chr3:24975006..24977097-chr3:24999784..25002405,2	K562	blood:
8	chr3:24984996..24987861-chr3:24992367..24994337,2	K562	blood:
9	chr3:24976922..24979133-chr3:24980723..24982726,2	K562	blood:
10	chr3:24984996..24987861-chr3:24992367..24994337,2	K562	blood:
11	chr3:24993898..24995691-chr3:25054784..25056351,2	K562	blood:
12	chr3:24975006..24977097-chr3:24999784..25002405,2	K562	blood:
13	chr3:24976191..24978816-chr3:24982389..24985346,2	K562	blood:
14	chr17:57861594..57864060-chr3:24935061..24936561,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267637	chromatin interactions

Extended variants
information (count: 3058 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3058 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2885593	chr3:24909003-24909004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145712570	chr3:24909004-24909005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187723796	chr3:24909012-24909013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530697245	chr3:24909049-24909050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545602171	chr3:24909083-24909084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2885594	chr3:24909090-24909091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs80250447	chr3:24909099-24909100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546607400	chr3:24909100-24909101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566420187	chr3:24909131-24909132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530419013	chr3:24909185-24909186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567813854	chr3:24909203-24909204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548477737	chr3:24909216-24909217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75956902	chr3:24909268-24909269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78846640	chr3:24909274-24909275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148941800	chr3:24909317-24909318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368215575	chr3:24909331-24909332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372462412	chr3:24909337-24909338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113487763	chr3:24909361-24909362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570915547	chr3:24909368-24909369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145891807	chr3:24909383-24909384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138496297	chr3:24909406-24909407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192502737	chr3:24909430-24909431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184660847	chr3:24909459-24909460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142934709	chr3:24909494-24909495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575376682	chr3:24909530-24909531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558898585	chr3:24909531-24909532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145121060	chr3:24909532-24909533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530270737	chr3:24909539-24909540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189447870	chr3:24909548-24909549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181463045	chr3:24909555-24909556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568789560	chr3:24909560-24909561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74810292	chr3:24909563-24909564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561674801	chr3:24909604-24909605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184238488	chr3:24909613-24909614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548929486	chr3:24909622-24909623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188994760	chr3:24909628-24909629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531053072	chr3:24909638-24909639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552734572	chr3:24909675-24909676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570911073	chr3:24909734-24909735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535130672	chr3:24909749-24909750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2362768	chr3:24909765-24909766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540489880	chr3:24909770-24909771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76897961	chr3:24909785-24909786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535435323	chr3:24909814-24909815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556870540	chr3:24909818-24909819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575482929	chr3:24909859-24909860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147998562	chr3:24909881-24909882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557932421	chr3:24909901-24909902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73047620	chr3:24909908-24909909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540353283	chr3:24909910-24909911	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24908800-24909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:24909000-24910400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:24919000-24919400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:24924200-24924600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:24924600-24928000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:24927800-24928400	Enhancers	Fetal Kidney	kidney
7	chr3:24928000-24928200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:24928000-24928200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:24928200-24929400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:24929400-24929600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:24930400-24930600	Enhancers	Fetal Lung	lung
12	chr3:24930600-24931600	Weak transcription	Fetal Lung	lung
13	chr3:24931600-24931800	Enhancers	Fetal Lung	lung
14	chr3:24934000-24934200	Enhancers	Fetal Lung	lung
15	chr3:24940400-24942600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:24943800-24944000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:24948400-24949400	Enhancers	Fetal Lung	lung
18	chr3:24952000-24952600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:24952000-24952800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:24957200-24957400	Enhancers	Fetal Lung	lung
21	chr3:24957400-24964200	Weak transcription	Fetal Lung	lung
22	chr3:24961200-24961600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:24961400-24962000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:24962200-24962400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:24964000-24965600	Enhancers	Fetal Kidney	kidney
26	chr3:24964200-24964600	Enhancers	Fetal Lung	lung
27	chr3:24964200-24964800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:24964600-24965600	Weak transcription	Fetal Lung	lung
29	chr3:24965000-24965400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:24965600-24966600	Enhancers	Fetal Lung	lung
31	chr3:24966600-24969000	Weak transcription	Fetal Lung	lung
32	chr3:24969000-24969400	Enhancers	Fetal Lung	lung
33	chr3:24969400-24975000	Weak transcription	Fetal Lung	lung
34	chr3:24970600-24971200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:24973600-24974400	Enhancers	Fetal Heart	heart
36	chr3:24975000-24976000	Enhancers	Fetal Kidney	kidney
37	chr3:24975000-24976000	Enhancers	Fetal Lung	lung
38	chr3:24976000-24976400	Weak transcription	Fetal Kidney	kidney
39	chr3:24976000-24976400	Weak transcription	Fetal Lung	lung
40	chr3:24976400-24976600	Enhancers	Fetal Kidney	kidney
41	chr3:24976400-24977600	Enhancers	Fetal Lung	lung
42	chr3:24976600-24976800	Enhancers	Fetal Heart	heart
43	chr3:24976600-24978800	Weak transcription	Fetal Kidney	kidney
44	chr3:24977600-24978000	Weak transcription	Fetal Lung	lung
45	chr3:24978000-24978800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:24978000-24979800	Enhancers	Fetal Lung	lung
47	chr3:24978600-24979200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:24978800-24979000	Enhancers	Fetal Kidney	kidney
49	chr3:24978800-24979200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:24978800-24979200	Enhancers	Right Atrium	heart

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