Variant report

Variant	nsv877602
Chromosome Location	chr3:145092747-145185102
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:1)
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	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:
2	chr3:144983651..144984522-chr3:145123095..145123660,2	MCF-7	breast:
3	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
4	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
5	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
6	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
7	chr3:145089993..145092059-chr3:145098025..145100330,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-9	chr3:145093215-145098582	NONHSAT092537

No data

Extended variants
information (count: 769 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6810154	chr3:145092747-145092748	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143742000	chr3:145092771-145092772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150165170	chr3:145092781-145092782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561827263	chr3:145092857-145092858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs529077756	chr3:145092901-145092902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547640021	chr3:145092904-145092905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559401003	chr3:145092943-145092944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7621264	chr3:145092977-145092978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550988389	chr3:145093029-145093030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569407376	chr3:145093036-145093037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184893811	chr3:145093042-145093043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548677532	chr3:145093046-145093047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111563911	chr3:145093048-145093049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188123100	chr3:145093107-145093108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554431929	chr3:145093129-145093130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138752296	chr3:145093140-145093141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570305138	chr3:145093143-145093144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539819354	chr3:145093157-145093158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558227350	chr3:145093164-145093165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576518141	chr3:145093203-145093204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148874362	chr3:145093263-145093264	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs543887944	chr3:145093301-145093302	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555916450	chr3:145093345-145093346	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs377458620	chr3:145093373-145093374	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs345047	chr3:145093398-145093399	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114541428	chr3:145093459-145093460	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs368383365	chr3:145093468-145093469	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs559574786	chr3:145093494-145093495	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs191579312	chr3:145093501-145093502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs184897246	chr3:145093519-145093520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs189566346	chr3:145093537-145093538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs149344753	chr3:145093575-145093576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556116340	chr3:145093577-145093578	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs548634598	chr3:145093585-145093586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs377210755	chr3:145093653-145093654	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs144751761	chr3:145093661-145093662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs138335687	chr3:145093665-145093666	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547723006	chr3:145093672-145093673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs549788092	chr3:145093679-145093680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs142819031	chr3:145093683-145093684	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs540100406	chr3:145093719-145093720	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs370400309	chr3:145093730-145093731	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs558495222	chr3:145093741-145093742	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs146125707	chr3:145093758-145093759	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs574636086	chr3:145093830-145093831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs147318069	chr3:145093915-145093916	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs181758303	chr3:145093920-145093921	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs555879687	chr3:145093923-145093924	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs140124873	chr3:145093928-145093929	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs541216397	chr3:145093936-145093937	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145092000-145093000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
2	chr3:145093000-145106200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:145101200-145101800	Active TSS	Stomach Smooth Muscle	stomach
4	chr3:145101800-145102000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr3:145102200-145102600	Enhancers	Fetal Stomach	stomach
6	chr3:145102400-145102600	Enhancers	Colon Smooth Muscle	Colon
7	chr3:145102600-145103400	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:145103400-145103600	Enhancers	Colon Smooth Muscle	Colon
9	chr3:145103600-145105000	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:145105200-145105400	Enhancers	Colon Smooth Muscle	Colon
11	chr3:145113200-145113600	Active TSS	Spleen	Spleen
12	chr3:145139800-145140800	Enhancers	Fetal Lung	lung
13	chr3:145152200-145153600	Enhancers	Fetal Lung	lung
14	chr3:145166400-145166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:145166400-145167400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:145171200-145171400	Enhancers	Fetal Heart	heart
17	chr3:145171400-145175800	Weak transcription	Fetal Heart	heart
18	chr3:145171600-145172400	Enhancers	Brain Hippocampus Middle	brain
19	chr3:145175800-145176400	Enhancers	Fetal Heart	heart

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