Variant report

Variant	nsv1011265
Chromosome Location	chr3:109474218-109625143
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:109521488..109524316-chr3:109526133..109527838,2	MCF-7	breast:
2	chr3:109470837..109472436-chr3:109472571..109474577,2	MCF-7	breast:
3	chr3:109581529..109584501-chr3:109598932..109601248,2	K562	blood:
4	chr3:109521488..109524316-chr3:109526133..109527838,2	MCF-7	breast:
5	chr3:109581529..109584501-chr3:109598932..109601248,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAT1-12	chr3:109589133-109590818	ncRnaDb_ncrna_FR244682_1
2	lnc-TRAT1-6	chr3:109523629-109523673	ENSG00000242029
3	lnc-TRAT1-6	chr3:109529521-109529708	ENSG00000242029

No data

Extended variants
information (count: 1357 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1357 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35957349	chr3:109478015-109478016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142071286	chr3:109478017-109478018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550648288	chr3:109478066-109478067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs187069956	chr3:109478074-109478075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577833058	chr3:109478085-109478086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548474367	chr3:109478102-109478103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs151133032	chr3:109478117-109478118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189991623	chr3:109478143-109478144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371647263	chr3:109478165-109478166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182980252	chr3:109478194-109478195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571447646	chr3:109491814-109491815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533759391	chr3:109491839-109491840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72946473	chr3:109491850-109491851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567232232	chr3:109491898-109491899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535410334	chr3:109491911-109491912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146799247	chr3:109491945-109491946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575637420	chr3:109491956-109491957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538308638	chr3:109491964-109491965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558050557	chr3:109492017-109492018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562255828	chr3:109492042-109492043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186490591	chr3:109492082-109492083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560729246	chr3:109492106-109492107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75919658	chr3:109492111-109492112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532511641	chr3:109492118-109492119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143834115	chr3:109492186-109492187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148173151	chr3:109492221-109492222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377399201	chr3:109492260-109492261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386664514	chr3:109492263-109492264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1152214	chr3:109492307-109492308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545060495	chr3:109492385-109492386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141078685	chr3:109492388-109492389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527442116	chr3:109492469-109492470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547191839	chr3:109492506-109492507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567218145	chr3:109492546-109492547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564102856	chr3:109492549-109492550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529975263	chr3:109492552-109492553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549089886	chr3:109492570-109492571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114680544	chr3:109492572-109492573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574356532	chr3:109492626-109492627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79294141	chr3:109492713-109492714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112395759	chr3:109492718-109492719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571779963	chr3:109492732-109492733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556241900	chr3:109492739-109492740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73213946	chr3:109492745-109492746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191872596	chr3:109492765-109492766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543377380	chr3:109492850-109492851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182957152	chr3:109492926-109492927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575956986	chr3:109492980-109492981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544686655	chr3:109493076-109493077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187543495	chr3:109493080-109493081	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109478000-109478200	ZNF genes & repeats	Dnd41	blood
2	chr3:109491800-109493200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:109491800-109493600	Enhancers	Dnd41	blood
4	chr3:109492000-109493000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:109492400-109493000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:109492400-109493000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:109492400-109493600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:109492400-109493800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:109492600-109493000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr3:109492600-109493200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:109504200-109505600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:109520200-109520600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:109520400-109520600	Enhancers	Brain Germinal Matrix	brain
14	chr3:109520600-109521600	Weak transcription	Brain Germinal Matrix	brain
15	chr3:109520600-109523000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:109521600-109522000	Enhancers	Brain Germinal Matrix	brain
17	chr3:109522000-109522200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:109522200-109522800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:109522200-109525400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:109522400-109524600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:109522800-109525600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:109523000-109524200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:109523000-109524600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr3:109523000-109524600	Enhancers	HMEC	breast
25	chr3:109523000-109524800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:109523000-109525200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:109523000-109525600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:109523000-109528200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:109523000-109528200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr3:109523400-109524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:109523400-109525200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr3:109523400-109525200	Enhancers	Dnd41	blood
33	chr3:109523400-109527800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr3:109523800-109524200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:109523800-109524200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr3:109523800-109528200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr3:109524000-109524200	Enhancers	Primary T cells from cord blood	blood
38	chr3:109524000-109525600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:109524200-109524600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:109524200-109524600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:109524600-109524800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr3:109524600-109525000	Weak transcription	HMEC	breast
43	chr3:109524600-109525400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:109524600-109525800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:109524600-109526000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:109524600-109527000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:109524800-109525800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr3:109524800-109528400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr3:109525000-109526400	Enhancers	HMEC	breast
50	chr3:109525000-109526600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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