Variant report

Variant	nsv1001752
Chromosome Location	chr3:34294343-34323331
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:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:34288854..34291341-chr3:34298518..34300242,2	K562	blood:
2	chr3:34302039..34302590-chr3:34415682..34416266,2	MCF-7	breast:
3	chr3:34307945..34310504-chr3:34315183..34316833,2	MCF-7	breast:
4	chr3:34148303..34148939-chr3:34318312..34319187,3	MCF-7	breast:
5	chr3:34285723..34288551-chr3:34291607..34294875,3	K562	blood:
6	chr3:33925768..33926296-chr3:34301785..34302560,2	MCF-7	breast:
7	chr3:34307556..34310522-chr3:34325293..34326875,2	K562	blood:
8	chr3:34301756..34302335-chr3:34725095..34725974,2	K562	blood:
9	chr3:34294305..34297993-chr3:34298599..34300564,3	K562	blood:
10	chr3:34319221..34321894-chr3:34324307..34326829,2	K562	blood:
11	chr3:34306531..34307201-chr3:34318306..34319090,2	MCF-7	breast:
12	chr3:34306937..34309088-chr3:34310627..34313215,3	K562	blood:
13	chr3:34302064..34302720-chr3:34415830..34416441,2	MCF-7	breast:
14	chr3:34237804..34239515-chr3:34306998..34309662,2	K562	blood:
15	chr3:34294305..34297993-chr3:34298599..34300564,3	K562	blood:
16	chr3:34021551..34022550-chr3:34318530..34319319,6	MCF-7	breast:
17	chr3:34306937..34309088-chr3:34310627..34313215,3	K562	blood:
18	chr3:34321033..34322833-chr3:34323963..34326820,2	MCF-7	breast:
19	chr3:33925854..33926364-chr3:34318708..34319375,2	MCF-7	breast:
20	chr3:34307945..34310504-chr3:34315183..34316833,2	MCF-7	breast:
21	chr3:34306531..34307201-chr3:34318306..34319090,2	MCF-7	breast:
22	chr3:34022227..34022973-chr3:34318347..34318888,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDCD6IP-1	chr3:34309814-34310303	XLOC_002613
2	lnc-PDCD6IP-1	chr3:34309814-34310187	XLOC_002613
3	lnc-PDCD6IP-2	chr3:34309814-34311242	NONHSAT088957

No data

Variant related genes	Relation type
FBXL3	miRNA target sites

Extended variants
information (count: 891 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4577412	chr3:34294343-34294344	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562366691	chr3:34294351-34294352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73830803	chr3:34294360-34294361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118050104	chr3:34294366-34294367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566119547	chr3:34294367-34294368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73830804	chr3:34294373-34294374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533452097	chr3:34294379-34294380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193060491	chr3:34294454-34294455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149944654	chr3:34294468-34294469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528322066	chr3:34294491-34294492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537409462	chr3:34294492-34294493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556184681	chr3:34294495-34294496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115267828	chr3:34294506-34294507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573555264	chr3:34294545-34294546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535304862	chr3:34294546-34294547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185880268	chr3:34294581-34294582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144138277	chr3:34294589-34294590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568301825	chr3:34294600-34294601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188902853	chr3:34294606-34294607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551753604	chr3:34294662-34294663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557800803	chr3:34294706-34294707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575958154	chr3:34294710-34294711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535857762	chr3:34294740-34294741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555715274	chr3:34294749-34294750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181577120	chr3:34294782-34294783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576118998	chr3:34294784-34294785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562292679	chr3:34294795-34294796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148700329	chr3:34294807-34294808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541682256	chr3:34294827-34294828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144387897	chr3:34294959-34294960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533539327	chr3:34294960-34294961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551591583	chr3:34294985-34294986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529280420	chr3:34295023-34295024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557267406	chr3:34295038-34295039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563752878	chr3:34295065-34295066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530854553	chr3:34295082-34295083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371405843	chr3:34295093-34295094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35489200	chr3:34295097-34295098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568047046	chr3:34295128-34295129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185278410	chr3:34295129-34295130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147830574	chr3:34295139-34295140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565553744	chr3:34295149-34295150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539580076	chr3:34295231-34295232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544763767	chr3:34295235-34295236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576086364	chr3:34295237-34295238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536689115	chr3:34295238-34295239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555388193	chr3:34295285-34295286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116358036	chr3:34295288-34295289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188630210	chr3:34295291-34295292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566174945	chr3:34295299-34295300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34291400-34297000	Weak transcription	Thymus	Thymus
2	chr3:34292600-34297400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:34294200-34294400	Enhancers	Aorta	Aorta
4	chr3:34294200-34294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:34294400-34296200	Weak transcription	Aorta	Aorta
6	chr3:34294600-34297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:34295600-34296200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:34295600-34300600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:34295800-34296000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:34295800-34296200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:34295800-34296600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:34295800-34299400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:34295800-34300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:34295800-34300600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:34296000-34296600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr3:34296000-34296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:34296000-34297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:34296000-34297000	Enhancers	Fetal Intestine Small	intestine
19	chr3:34296000-34297600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:34296000-34298000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr3:34296000-34298000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:34296000-34304000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:34296200-34296400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr3:34296200-34296400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:34296200-34296600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:34296200-34297400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:34296200-34298200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr3:34296200-34298600	Enhancers	Aorta	Aorta
29	chr3:34296200-34301000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:34296400-34296600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:34296400-34300200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:34296600-34297200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr3:34296600-34299200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:34296600-34300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:34296800-34298000	Enhancers	Fetal Intestine Large	intestine
36	chr3:34297000-34298000	Enhancers	Thymus	Thymus
37	chr3:34297000-34298800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:34297000-34301800	Weak transcription	Fetal Intestine Small	intestine
39	chr3:34297400-34297800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr3:34297400-34297800	Enhancers	Fetal Muscle Leg	muscle
41	chr3:34297400-34298000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:34297400-34298000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:34297400-34298000	Enhancers	Fetal Thymus	thymus
44	chr3:34297400-34298000	Enhancers	Right Atrium	heart
45	chr3:34297400-34298000	Enhancers	Right Ventricle	heart
46	chr3:34297400-34298000	Enhancers	Dnd41	blood
47	chr3:34297400-34298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:34297400-34298200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr3:34297400-34298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:34297600-34297800	Enhancers	Fetal Heart	heart

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