Variant report

Variant	nsv965236
Chromosome Location	chr3:178938931-178955061
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178945786..178948159-chr3:178949089..178951584,2	K562	blood:
2	chr3:178951996..178954548-chr3:178958414..178959970,2	K562	blood:
3	chr3:178953311..178955072-chr3:178966973..178969868,2	K562	blood:
4	chr3:178951419..178954730-chr3:178963879..178966667,3	K562	blood:
5	chr3:178945786..178948159-chr3:178949089..178951584,2	K562	blood:
6	chr3:178896594..178898172-chr3:178937850..178940381,2	MCF-7	breast:
7	chr3:178945435..178949746-chr3:178950084..178953844,5	K562	blood:
8	chr3:178884097..178886726-chr3:178940111..178942496,2	K562	blood:
9	chr3:178945435..178949746-chr3:178950084..178953844,5	K562	blood:
10	chr3:178944054..178944911-chr3:184425621..184426330,2	MCF-7	breast:
11	chr3:178943942..178946700-chr3:178952979..178954820,2	MCF-7	breast:
12	chr3:178946686..178948186-chr8:146053818..146055345,2	MCF-7	breast:
13	chr3:178943942..178946700-chr3:178952979..178954820,2	MCF-7	breast:
14	chr3:178936118..178938279-chr3:178940553..178942291,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF639-4	chr3:178953578-178955289	NONHSAT093388
2	lnc-KCNMB3-2	chr3:178954479-178955163	ENSG00000272700.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PIK3CA	hsa-miR-148b-3p	chr3:178952181-178952202
2	PIK3CA	hsa-miR-17-5p	chr3:178952320-178952342

Variant related genes	Relation type
ENSG00000147789	chromatin interactions
ENSG00000121879	chromatin interactions
ENSG00000171121	chromatin interactions

Extended variants
information (count: 550 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116336243	chr3:178938939-178938940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs41273621	chr3:178938943-178938944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17849073	chr3:178938961-178938962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200748589	chr3:178938973-178938974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202059479	chr3:178938975-178938976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185934527	chr3:178938982-178938983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28763916	chr3:178938988-178938989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568498114	chr3:178939003-178939004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537477040	chr3:178939012-178939013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3729689	chr3:178939018-178939019	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546158671	chr3:178939082-178939083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66702842	chr3:178939091-178939092	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115685909	chr3:178939096-178939097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72563170	chr3:178939101-178939102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576221680	chr3:178939114-178939115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374918373	chr3:178939173-178939174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541932741	chr3:178939189-178939190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553311898	chr3:178939200-178939201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573542518	chr3:178939245-178939246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7624090	chr3:178939251-178939252	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527709506	chr3:178939267-178939268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565603768	chr3:178939279-178939280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575704281	chr3:178939296-178939297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544318856	chr3:178939324-178939325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561395570	chr3:178939395-178939396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181823036	chr3:178939420-178939421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375223141	chr3:178939428-178939429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546748505	chr3:178939439-178939440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560104729	chr3:178939443-178939444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532208694	chr3:178939450-178939451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185919139	chr3:178939459-178939460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200211358	chr3:178939485-178939486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112699827	chr3:178939506-178939507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112001153	chr3:178939512-178939513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2677771	chr3:178939530-178939531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2677772	chr3:178939553-178939554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2677773	chr3:178939556-178939557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190386500	chr3:178939586-178939587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537406110	chr3:178939663-178939664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183014297	chr3:178939668-178939669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140866573	chr3:178939680-178939681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532481625	chr3:178939692-178939693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533665494	chr3:178939711-178939712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553863947	chr3:178939742-178939743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552488196	chr3:178939748-178939749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2699908	chr3:178939760-178939761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200064271	chr3:178939766-178939767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376313941	chr3:178939855-178939856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573450393	chr3:178939893-178939894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150987912	chr3:178939919-178939920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Human papillomavirus	17975027	CNVD
Adenocarcinoma	18757405	CNVD
Lung cancer	18757405	CNVD
Squamous cell cancer	18757405	CNVD
small cell lung cancer	18757405	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178899200-178951800	Weak transcription	K562	blood
2	chr3:178906400-178962400	Weak transcription	HepG2	liver
3	chr3:178909000-178947000	Weak transcription	Ovary	ovary
4	chr3:178911200-178953400	Weak transcription	Gastric	stomach
5	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
6	chr3:178912600-178947800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:178913000-178948200	Weak transcription	Psoas Muscle	Psoas
8	chr3:178913200-178945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:178913200-178947000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:178913200-178947000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:178913800-178954000	Weak transcription	Fetal Heart	heart
12	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
13	chr3:178914600-178945200	Weak transcription	HMEC	breast
14	chr3:178914800-178941400	Weak transcription	GM12878-XiMat	blood
15	chr3:178914800-178942800	Weak transcription	NH-A	brain
16	chr3:178914800-178948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:178915400-178946000	Weak transcription	Stomach Mucosa	stomach
19	chr3:178915400-178947000	Weak transcription	NHDF-Ad	bronchial
20	chr3:178915600-178947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
22	chr3:178917400-178948400	Weak transcription	Esophagus	oesophagus
23	chr3:178917600-178953800	Weak transcription	Colonic Mucosa	Colon
24	chr3:178919800-178947000	Weak transcription	NHLF	lung
25	chr3:178920000-178947200	Weak transcription	Brain Angular Gyrus	brain
26	chr3:178920200-178947800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:178920200-178948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:178920200-178952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:178920200-178968400	Weak transcription	Spleen	Spleen
30	chr3:178921200-178948800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:178922200-178941400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:178922200-178945600	Weak transcription	HUVEC	blood vessel
33	chr3:178922600-178946200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:178924200-178948200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:178925800-178947600	Weak transcription	Aorta	Aorta
36	chr3:178925800-178951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:178925800-178968200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:178925800-178968600	Weak transcription	Pancreas	Pancrea
39	chr3:178926400-178947600	Weak transcription	Brain Germinal Matrix	brain
40	chr3:178928400-178943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:178928600-178939000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:178928600-178940600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:178928600-178944000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:178928600-178947000	Weak transcription	Fetal Brain Male	brain
45	chr3:178928600-178947600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:178928600-178962400	Weak transcription	Brain Substantia Nigra	brain
47	chr3:178928800-178948600	Weak transcription	Fetal Kidney	kidney
48	chr3:178928800-178953200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:178929000-178941200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:178929000-178947000	Weak transcription	Osteobl	bone

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