Variant report

Variant	nsv521447
Chromosome Location	chr3:24292825-24299505
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24298149..24300449-chr3:24302708..24304769,2	K562	blood:
2	chr3:24292380..24293972-chr3:24295078..24296685,2	K562	blood:
3	chr3:24297598..24300449-chr3:24300690..24305218,5	K562	blood:
4	chr3:23958551..23960055-chr3:24295858..24297898,2	K562	blood:
5	chr3:24284818..24287512-chr3:24293603..24295471,2	MCF-7	breast:
6	chr3:24298797..24301703-chr3:24554490..24556064,2	K562	blood:
7	chr3:24060176..24062310-chr3:24299277..24301761,2	K562	blood:
8	chr3:24296130..24297967-chr3:24299752..24301340,2	MCF-7	breast:
9	chr3:24292380..24293972-chr3:24295078..24296685,2	K562	blood:
10	chr3:24253238..24254897-chr3:24293051..24294557,2	K562	blood:
11	chr3:24295617..24298486-chr3:24535596..24538208,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000151090	chromatin interactions
ENSG00000197885	chromatin interactions
ENSG00000174748	chromatin interactions
ENSG00000228791	chromatin interactions

Extended variants
information (count: 264 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:264 , 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	rs2044756	chr3:24292825-24292826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147577182	chr3:24292875-24292876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142206067	chr3:24292881-24292882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181472742	chr3:24292924-24292925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2044755	chr3:24292926-24292927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2044754	chr3:24292940-24292941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554297463	chr3:24292998-24292999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2044753	chr3:24293001-24293002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542996638	chr3:24293033-24293034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539096772	chr3:24293073-24293074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142074188	chr3:24293174-24293175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531644182	chr3:24293175-24293176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543681372	chr3:24293187-24293188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145943217	chr3:24293207-24293208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201321592	chr3:24293293-24293294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184552943	chr3:24293322-24293323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532326690	chr3:24293363-24293364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151228931	chr3:24293379-24293380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534267162	chr3:24293400-24293401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558979165	chr3:24293403-24293404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188568231	chr3:24293415-24293416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181330455	chr3:24293444-24293445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547746479	chr3:24293534-24293535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569291406	chr3:24293567-24293568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536672848	chr3:24293580-24293581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550443772	chr3:24293622-24293623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377585233	chr3:24293625-24293626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186501937	chr3:24293626-24293627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539184023	chr3:24293649-24293650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554410073	chr3:24293655-24293656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190959666	chr3:24293671-24293672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566120285	chr3:24293692-24293693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140384187	chr3:24293713-24293714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555128385	chr3:24293729-24293730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150366940	chr3:24293763-24293764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543492158	chr3:24293841-24293842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536496049	chr3:24293899-24293900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181073648	chr3:24293926-24293927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115326708	chr3:24293934-24293935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187361516	chr3:24293939-24293940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138161555	chr3:24293941-24293942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190897383	chr3:24293984-24293985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1562733	chr3:24294113-24294114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372092590	chr3:24294117-24294118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7433019	chr3:24294118-24294119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141169381	chr3:24294142-24294143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571864108	chr3:24294152-24294153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539362999	chr3:24294162-24294163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548143068	chr3:24294238-24294239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540728388	chr3:24294260-24294261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24272400-24301400	Weak transcription	Fetal Intestine Large	intestine
2	chr3:24283600-24297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:24284200-24300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:24284400-24295200	Weak transcription	Fetal Stomach	stomach
5	chr3:24284600-24295200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:24284600-24300400	Weak transcription	Pancreas	Pancrea
7	chr3:24285000-24296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:24285200-24299600	Weak transcription	Left Ventricle	heart
9	chr3:24285400-24294800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:24286800-24294800	Weak transcription	Aorta	Aorta
11	chr3:24286800-24299200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:24291600-24293400	Weak transcription	Stomach Mucosa	stomach
13	chr3:24291600-24294800	Weak transcription	Fetal Intestine Small	intestine
14	chr3:24293400-24293800	Enhancers	Stomach Mucosa	stomach
15	chr3:24293600-24295000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:24294200-24295000	Weak transcription	Psoas Muscle	Psoas
17	chr3:24294800-24295000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:24294800-24295200	Enhancers	Aorta	Aorta
19	chr3:24294800-24295200	Enhancers	Fetal Intestine Small	intestine
20	chr3:24294800-24295200	Enhancers	Right Ventricle	heart
21	chr3:24294800-24295200	Enhancers	NHDF-Ad	bronchial
22	chr3:24294800-24295400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:24294800-24295400	Enhancers	HepG2	liver
24	chr3:24294800-24295400	Enhancers	HMEC	breast
25	chr3:24294800-24296600	Enhancers	Colon Smooth Muscle	Colon
26	chr3:24294800-24297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:24295000-24295200	Enhancers	Psoas Muscle	Psoas
28	chr3:24295000-24296000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr3:24295000-24296400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:24295200-24295400	Enhancers	Fetal Stomach	stomach
31	chr3:24295200-24295400	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:24295200-24295600	Weak transcription	NHDF-Ad	bronchial
33	chr3:24295200-24297000	Weak transcription	Psoas Muscle	Psoas
34	chr3:24295200-24298000	Weak transcription	Right Ventricle	heart
35	chr3:24295200-24299600	Weak transcription	Aorta	Aorta
36	chr3:24295200-24299600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:24295400-24295800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:24295400-24295800	Weak transcription	HMEC	breast
39	chr3:24295400-24297000	Weak transcription	Fetal Stomach	stomach
40	chr3:24295400-24300000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:24295400-24306400	Weak transcription	HepG2	liver
42	chr3:24295600-24295800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:24295600-24297200	Enhancers	NHDF-Ad	bronchial
44	chr3:24295800-24296200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:24295800-24296600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:24295800-24296600	Enhancers	Rectal Smooth Muscle	rectum
47	chr3:24295800-24296800	Enhancers	HSMM	muscle
48	chr3:24295800-24296800	Enhancers	Osteobl	bone
49	chr3:24295800-24297000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:24295800-24297000	Enhancers	Muscle Satellite Cultured Cells	--

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