Variant report

Variant	nsv1013031
Chromosome Location	chr3:88256289-88347505
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:88268096..88268898-chr3:89163502..89164670,4	MCF-7	breast:
2	chr3:88260406..88263324-chr3:88267583..88270282,2	K562	blood:
3	chr3:88268148..88268804-chr3:89147889..89148832,3	MCF-7	breast:
4	chr3:88315596..88318595-chr3:88324045..88326072,2	K562	blood:
5	chr3:88315596..88318595-chr3:88324045..88326072,2	K562	blood:
6	chr3:88260406..88263324-chr3:88267583..88270282,2	K562	blood:
7	chr3:88268154..88268973-chr3:89148016..89148802,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf38-4	chr3:88261525-88261666	l_2408_chr3:88261524-88267136_placenta
2	lnc-C3orf38-4	chr3:88266901-88267136	l_2408_chr3:88261524-88267136_placenta

No data

Extended variants
information (count: 2207 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2207 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151015693	chr3:88256333-88256334	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566897168	chr3:88256386-88256387	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527786041	chr3:88256404-88256405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578111812	chr3:88256491-88256492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552110619	chr3:88256503-88256504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570526865	chr3:88256508-88256509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538121547	chr3:88256520-88256521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556466861	chr3:88256525-88256526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543590497	chr3:88256571-88256572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76726720	chr3:88256576-88256577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80206740	chr3:88256586-88256587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572091093	chr3:88256606-88256607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75209313	chr3:88256612-88256613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557818400	chr3:88256629-88256630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73146127	chr3:88256657-88256658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529320841	chr3:88256666-88256667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565138127	chr3:88256678-88256679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201064889	chr3:88256684-88256685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543758583	chr3:88256685-88256686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71131565	chr3:88256713-88256714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397990483	chr3:88256734-88256735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568384768	chr3:88256768-88256769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145773882	chr3:88256805-88256806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548976939	chr3:88256813-88256814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573784688	chr3:88256821-88256822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184205276	chr3:88256843-88256844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138696110	chr3:88256897-88256898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190416511	chr3:88256905-88256906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552231236	chr3:88256925-88256926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564161772	chr3:88257065-88257066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531564095	chr3:88257179-88257180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376899792	chr3:88257191-88257192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200489996	chr3:88257246-88257247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538959482	chr3:88257263-88257264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557743911	chr3:88257283-88257284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577519956	chr3:88257349-88257350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550070133	chr3:88257435-88257436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192671455	chr3:88257446-88257447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7432559	chr3:88257447-88257448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs547713000	chr3:88257492-88257493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375388624	chr3:88257500-88257501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528394044	chr3:88257505-88257506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551244028	chr3:88257532-88257533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539565894	chr3:88257538-88257539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185011719	chr3:88257543-88257544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576119656	chr3:88257557-88257558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368532578	chr3:88257583-88257584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537001521	chr3:88257584-88257585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555340661	chr3:88257610-88257611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189073128	chr3:88257660-88257661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88253400-88278200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:88255600-88256400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:88255600-88256400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:88256000-88256400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:88256200-88256600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:88256400-88256600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:88258600-88258800	Enhancers	Fetal Stomach	stomach
8	chr3:88258800-88260200	Weak transcription	Fetal Stomach	stomach
9	chr3:88259800-88261400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:88260200-88260600	Enhancers	Fetal Stomach	stomach
11	chr3:88260600-88261000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:88266200-88268400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:88266800-88267000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:88267000-88268200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:88268200-88268800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:88268200-88268800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:88268200-88268800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:88268200-88268800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:88268200-88269000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:88268400-88268600	Active TSS	Brain Anterior Caudate	brain
21	chr3:88268400-88268600	Enhancers	Brain Hippocampus Middle	brain
22	chr3:88268400-88268600	Enhancers	Brain Substantia Nigra	brain
23	chr3:88268400-88268800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:88268400-88268800	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:88268600-88268800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:88268600-88268800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:88268600-88268800	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr3:88268600-88268800	Enhancers	Stomach Smooth Muscle	stomach
29	chr3:88268600-88268800	Enhancers	HepG2	liver
30	chr3:88268600-88274400	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:88268600-88274400	Weak transcription	Brain Substantia Nigra	brain
32	chr3:88269000-88269400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:88269400-88270800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:88270800-88271000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:88271000-88271400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:88271400-88271800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:88271800-88279600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:88273400-88273600	Enhancers	Brain Angular Gyrus	brain
39	chr3:88273600-88274600	Weak transcription	Brain Angular Gyrus	brain
40	chr3:88274400-88274600	Active TSS	Brain Hippocampus Middle	brain
41	chr3:88274400-88274600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr3:88274400-88274800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:88274400-88274800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:88274400-88274800	Enhancers	Brain Substantia Nigra	brain
45	chr3:88274400-88274800	Enhancers	Fetal Brain Female	brain
46	chr3:88274400-88275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:88274400-88275400	Enhancers	Brain Germinal Matrix	brain
48	chr3:88274600-88274800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr3:88274600-88274800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr3:88274600-88275000	Enhancers	Brain Angular Gyrus	brain

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