Variant report

Variant	nsv876869
Chromosome Location	chr3:61357417-61444443
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:61402150..61405123-chr3:61405976..61408956,3	K562	blood:
2	chr3:61404334..61405865-chr3:61408872..61411112,2	MCF-7	breast:
3	chr3:61404334..61405865-chr3:61408872..61411112,2	MCF-7	breast:
4	chr3:61367227..61368164-chr3:180989945..180990474,2	MCF-7	breast:
5	chr3:59560756..59561799-chr3:61367133..61368119,4	K562	blood:
6	chr3:61402150..61405123-chr3:61405976..61408956,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRG-4	chr3:61395234-61395387	NONHSAT090168
2	lnc-PTPRG-4	chr3:61398784-61398853	NONHSAT090168

No data

Extended variants
information (count: 1520 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1520 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13067383	chr3:61357417-61357418	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs77536447	chr3:61357443-61357444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113283562	chr3:61357454-61357455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140054027	chr3:61357479-61357480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567770156	chr3:61357484-61357485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62269918	chr3:61357492-61357493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553145884	chr3:61357549-61357550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577742951	chr3:61357551-61357552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376127179	chr3:61357631-61357632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557092381	chr3:61357645-61357646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11710151	chr3:61357678-61357679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373341961	chr3:61357736-61357737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190018864	chr3:61357744-61357745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561977539	chr3:61357785-61357786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574090246	chr3:61357794-61357795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576634611	chr3:61357798-61357799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527678619	chr3:61357803-61357804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554317168	chr3:61357837-61357838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58540051	chr3:61357840-61357841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529194663	chr3:61357868-61357869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112598923	chr3:61357889-61357890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150302038	chr3:61357893-61357894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11718019	chr3:61357986-61357987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551425562	chr3:61357988-61357989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113763819	chr3:61358005-61358006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116475752	chr3:61358015-61358016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182337200	chr3:61358066-61358067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567663757	chr3:61358138-61358139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140592581	chr3:61358162-61358163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538089617	chr3:61358163-61358164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533522877	chr3:61358166-61358167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35818551	chr3:61358181-61358182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534963634	chr3:61358183-61358184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186620987	chr3:61358188-61358189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576770762	chr3:61358189-61358190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1453759	chr3:61358213-61358214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192590067	chr3:61358220-61358221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575559781	chr3:61358223-61358224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375263363	chr3:61358277-61358278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534457419	chr3:61358291-61358292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61625861	chr3:61358312-61358313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34336969	chr3:61358329-61358330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541320086	chr3:61358349-61358350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142042555	chr3:61358419-61358420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577863586	chr3:61358447-61358448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367869876	chr3:61358448-61358449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544784153	chr3:61358503-61358504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72883290	chr3:61358544-61358545	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530516276	chr3:61358558-61358559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183918895	chr3:61358611-61358612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61350200-61359400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:61357000-61358400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:61358400-61358600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:61363600-61364200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:61363600-61364600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:61364600-61364800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:61367400-61367600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:61379400-61379800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:61390200-61390600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:61395400-61395600	Enhancers	Liver	Liver
11	chr3:61395600-61396600	Weak transcription	Liver	Liver
12	chr3:61396600-61397800	Enhancers	Liver	Liver
13	chr3:61399800-61401000	Enhancers	GM12878-XiMat	blood
14	chr3:61400600-61401000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:61400600-61401200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:61400800-61401000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:61402800-61403800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:61403000-61403200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:61403000-61403800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:61403000-61403800	Enhancers	Adipose Nuclei	Adipose
21	chr3:61404400-61405200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:61404800-61405200	Enhancers	Fetal Brain Male	brain
23	chr3:61405200-61408800	Weak transcription	Fetal Brain Male	brain
24	chr3:61405800-61406000	Enhancers	GM12878-XiMat	blood
25	chr3:61406000-61406400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:61406000-61406600	Flanking Active TSS	GM12878-XiMat	blood
27	chr3:61408600-61409800	Enhancers	HepG2	liver
28	chr3:61408800-61409400	Enhancers	Fetal Brain Female	brain
29	chr3:61408800-61409600	Enhancers	Fetal Brain Male	brain
30	chr3:61408800-61409800	Enhancers	Fetal Heart	heart
31	chr3:61409000-61409600	Enhancers	Fetal Kidney	kidney
32	chr3:61411000-61411200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:61411200-61416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:61413400-61413800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr3:61414400-61415400	Enhancers	Adipose Nuclei	Adipose
36	chr3:61416000-61416200	Enhancers	Fetal Muscle Leg	muscle
37	chr3:61423800-61425400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr3:61424000-61424400	Enhancers	Liver	Liver
39	chr3:61424000-61425200	Enhancers	Fetal Intestine Small	intestine
40	chr3:61424000-61425400	Enhancers	Fetal Lung	lung
41	chr3:61424000-61425400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:61424400-61424600	Flanking Active TSS	Liver	Liver
43	chr3:61424400-61424800	Enhancers	Fetal Heart	heart
44	chr3:61424600-61424800	Enhancers	Liver	Liver
45	chr3:61424600-61425000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:61424800-61425000	Flanking Active TSS	Liver	Liver
47	chr3:61424800-61425400	Enhancers	Psoas Muscle	Psoas
48	chr3:61425000-61425400	Enhancers	Liver	Liver
49	chr3:61425400-61429000	Weak transcription	Fetal Lung	lung
50	chr3:61425400-61429000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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