Variant report

Variant	nsv1004467
Chromosome Location	chr3:142768867-142800605
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142773649..142775353-chr3:142777692..142779387,2	K562	blood:
2	chr3:142791929..142795122-chr3:142795804..142798158,4	K562	blood:
3	chr3:142771143..142772796-chr3:142793296..142795434,2	K562	blood:
4	chr3:142795942..142800352-chr3:142837416..142841083,3	K562	blood:
5	chr3:142716811..142718483-chr3:142789179..142792100,2	K562	blood:
6	chr3:142791929..142795122-chr3:142795804..142797960,4	K562	blood:
7	chr3:142771385..142780409-chr3:142780501..142789449,10	K562	blood:
8	chr3:142742616..142744356-chr3:142781351..142784020,2	K562	blood:
9	chr3:142755078..142757417-chr3:142772716..142774834,2	MCF-7	breast:
10	chr3:142799728..142802020-chr3:142842393..142844077,2	K562	blood:
11	chr3:142764453..142766415-chr3:142770589..142773461,2	K562	blood:
12	chr3:142772025..142774338-chr3:142838383..142839930,2	K562	blood:
13	chr3:142800593..142805495-chr3:142835136..142839068,6	K562	blood:
14	chr3:142794271..142797141-chr3:142844007..142845720,2	K562	blood:
15	chr3:142796365..142799329-chr3:142833969..142835708,2	K562	blood:
16	chr3:142781075..142783865-chr3:142785035..142787679,2	K562	blood:
17	chr3:142795942..142798929-chr3:142838470..142841083,3	K562	blood:
18	chr3:142720400..142721935-chr3:142786483..142788074,2	MCF-7	breast:
19	chr3:142760431..142761982-chr3:142770707..142772326,2	K562	blood:
20	chr3:142758048..142759562-chr3:142771594..142774382,2	K562	blood:
21	chr3:142781075..142783865-chr3:142785035..142787679,2	K562	blood:
22	chr3:142786465..142789211-chr3:142837997..142840855,2	K562	blood:
23	chr3:142769496..142773173-chr3:142775914..142778153,3	K562	blood:
24	chr3:142781075..142783865-chr3:142785035..142788553,3	K562	blood:
25	chr3:142777135..142778996-chr3:142838578..142841035,2	K562	blood:
26	chr3:142771143..142772796-chr3:142793296..142795434,2	K562	blood:
27	chr3:142787448..142789690-chr3:143147155..143148853,2	K562	blood:
28	chr3:142773649..142775353-chr3:142777692..142779387,2	K562	blood:
29	chr3:142768453..142771583-chr3:142772247..142775036,3	MCF-7	breast:
30	chr3:142720333..142723024-chr3:142799312..142801743,2	K562	blood:
31	chr3:142782552..142784422-chr3:142838068..142840102,2	K562	blood:
32	chr3:142768453..142771583-chr3:142772247..142775036,3	MCF-7	breast:
33	chr3:142782763..142785207-chr3:142789429..142791710,3	K562	blood:
34	chr3:142771385..142780409-chr3:142780501..142789449,10	K562	blood:
35	chr3:142791929..142795122-chr3:142795804..142797960,4	K562	blood:
36	chr3:142769496..142773173-chr3:142775914..142778153,3	K562	blood:
37	chr3:142790255..142790841-chr3:143363451..143364029,2	MCF-7	breast:
38	chr3:142782763..142785207-chr3:142789429..142791710,3	K562	blood:
39	chr3:142775856..142778240-chr3:142884608..142886181,2	K562	blood:
40	chr3:142781075..142783865-chr3:142785035..142788553,3	K562	blood:
41	chr3:142791929..142795122-chr3:142795804..142798158,4	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SR140	hsa-miR-29c-3p	chr3:142776910-142776931
2	U2SURP	hsa-miR-29c-3p	chr3:142776924-142776930

Variant related genes	Relation type
ENSG00000175040	chromatin interactions
ENSG00000163714	chromatin interactions

Extended variants
information (count: 1169 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568927837	chr3:142768875-142768876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575590488	chr3:142768917-142768918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543105996	chr3:142768960-142768961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536262489	chr3:142768993-142768994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543232734	chr3:142768996-142768997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572747079	chr3:142769002-142769003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540949636	chr3:142769008-142769009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150063157	chr3:142769009-142769010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577382984	chr3:142769018-142769019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544368948	chr3:142769042-142769043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562643671	chr3:142769051-142769052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371086143	chr3:142769080-142769081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574548159	chr3:142769081-142769082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541908416	chr3:142769102-142769103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187936734	chr3:142769156-142769157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527673256	chr3:142769158-142769159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373636193	chr3:142769162-142769163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546889752	chr3:142769185-142769186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563121866	chr3:142769195-142769196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532351042	chr3:142769206-142769207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9881390	chr3:142769210-142769211	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148411110	chr3:142769211-142769212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536398220	chr3:142769231-142769232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144041862	chr3:142769295-142769296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561230657	chr3:142769296-142769297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565240585	chr3:142769312-142769313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528649936	chr3:142769375-142769376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2045306	chr3:142769459-142769460	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs368346594	chr3:142769464-142769465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146467143	chr3:142769503-142769504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538055908	chr3:142769531-142769532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72990829	chr3:142769551-142769552	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574672730	chr3:142769564-142769565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376630328	chr3:142769570-142769571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190678480	chr3:142769580-142769581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560352196	chr3:142769594-142769595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572427930	chr3:142769611-142769612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545833291	chr3:142769612-142769613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565196130	chr3:142769635-142769636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532490381	chr3:142769654-142769655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550892495	chr3:142769673-142769674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35822638	chr3:142769674-142769675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562699941	chr3:142769754-142769755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140915754	chr3:142769761-142769762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376035119	chr3:142769891-142769892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548280346	chr3:142769924-142769925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566415482	chr3:142769929-142769930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113818269	chr3:142770109-142770110	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569627200	chr3:142770120-142770121	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551844799	chr3:142770154-142770155	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142728600-142769000	Weak transcription	Pancreas	Pancrea
2	chr3:142729200-142785200	Weak transcription	Aorta	Aorta
3	chr3:142734400-142785200	Weak transcription	Esophagus	oesophagus
4	chr3:142740000-142769200	Weak transcription	Gastric	stomach
5	chr3:142749000-142784200	Weak transcription	Small Intestine	intestine
6	chr3:142749200-142769000	Weak transcription	Right Ventricle	heart
7	chr3:142749200-142779000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:142754200-142769800	Weak transcription	Colonic Mucosa	Colon
9	chr3:142756000-142774400	Weak transcription	Stomach Mucosa	stomach
10	chr3:142756200-142769200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:142761800-142776600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:142763000-142769400	Weak transcription	NHEK	skin
13	chr3:142763400-142787000	Weak transcription	Spleen	Spleen
14	chr3:142763600-142769200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:142763600-142770000	Weak transcription	NHLF	lung
16	chr3:142763800-142769200	Weak transcription	HUVEC	blood vessel
17	chr3:142763800-142769400	Weak transcription	HSMMtube	muscle
18	chr3:142763800-142772600	Weak transcription	Psoas Muscle	Psoas
19	chr3:142763800-142773200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:142764000-142769400	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:142764200-142769000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:142764200-142784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:142764600-142769000	Weak transcription	Ovary	ovary
24	chr3:142764600-142769200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:142764600-142772800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:142764600-142775200	Weak transcription	Brain Angular Gyrus	brain
27	chr3:142764800-142769000	Weak transcription	Left Ventricle	heart
28	chr3:142764800-142769000	Weak transcription	Thymus	Thymus
29	chr3:142764800-142769200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:142764800-142769200	Weak transcription	Brain Anterior Caudate	brain
31	chr3:142764800-142769200	Weak transcription	Brain Substantia Nigra	brain
32	chr3:142764800-142769200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:142764800-142769200	Weak transcription	HepG2	liver
34	chr3:142764800-142769200	Weak transcription	NHDF-Ad	bronchial
35	chr3:142764800-142769400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:142764800-142769400	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:142764800-142769400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:142764800-142769600	Weak transcription	Fetal Kidney	kidney
39	chr3:142764800-142770600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr3:142764800-142770800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:142764800-142771400	Weak transcription	Brain Germinal Matrix	brain
42	chr3:142764800-142772600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:142764800-142779600	Weak transcription	Fetal Brain Male	brain
44	chr3:142765000-142769200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:142765000-142769200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:142765000-142769200	Weak transcription	Fetal Lung	lung
47	chr3:142765000-142769200	Weak transcription	NH-A	brain
48	chr3:142765000-142770200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:142765000-142771200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:142765000-142782200	Weak transcription	Fetal Heart	heart

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