Variant report

Variant	nsv933820
Chromosome Location	chr3:121489302-121500759
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:1)
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	chr3:121469877..121471972-chr3:121492602..121496614,3	MCF-7	breast:
2	chr3:121466769..121469107-chr3:121494508..121496191,2	MCF-7	breast:
3	chr3:121467012..121468872-chr3:121497034..121500161,3	K562	blood:
4	chr3:121498095..121500834-chr3:121519561..121521853,2	MCF-7	breast:
5	chr3:121498622..121501358-chr3:121516478..121520165,3	K562	blood:
6	chr3:121467285..121470096-chr3:121490957..121493415,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EAF2-2	chr3:121489799-121490825	l_2448_chr3:121487690-121490825_testes

No data

Variant related genes	Relation type
ENSG00000173230	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371452827	chr3:121489330-121489331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373762948	chr3:121489378-121489379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367675762	chr3:121489391-121489392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200719828	chr3:121489394-121489395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149207095	chr3:121489395-121489396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148949254	chr3:121489440-121489441	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561258151	chr3:121489444-121489445	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182873272	chr3:121489445-121489446	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540209390	chr3:121489463-121489464	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187598663	chr3:121489478-121489479	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532487183	chr3:121489485-121489486	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190116158	chr3:121489511-121489512	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552685511	chr3:121489598-121489599	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111687283	chr3:121489612-121489613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530741761	chr3:121489673-121489674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550857996	chr3:121489750-121489751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182624261	chr3:121489887-121489888	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs568099890	chr3:121489892-121489893	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs13062684	chr3:121489893-121489894	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138230609	chr3:121489904-121489905	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs557390379	chr3:121489964-121489965	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538355677	chr3:121489967-121489968	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs367578642	chr3:121489968-121489969	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs59740137	chr3:121490006-121490007	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs188096665	chr3:121490010-121490011	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs143290713	chr3:121490022-121490023	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs554768729	chr3:121490039-121490040	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs574774769	chr3:121490070-121490071	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs540562870	chr3:121490098-121490099	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs59002131	chr3:121490108-121490109	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs557941041	chr3:121490148-121490149	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs545935573	chr3:121490170-121490171	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs563013709	chr3:121490224-121490225	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559112562	chr3:121490238-121490239	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs530592372	chr3:121490239-121490240	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs192709078	chr3:121490261-121490262	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs184515403	chr3:121490262-121490263	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs368362690	chr3:121490299-121490300	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs530006776	chr3:121490325-121490326	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368561795	chr3:121490350-121490351	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs188893645	chr3:121490364-121490365	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs566300328	chr3:121490365-121490366	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs538639573	chr3:121490372-121490373	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551952704	chr3:121490386-121490387	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs568911373	chr3:121490395-121490396	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs10934560	chr3:121490416-121490417	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs192503070	chr3:121490425-121490426	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs147519372	chr3:121490489-121490490	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs541116668	chr3:121490491-121490492	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs560899659	chr3:121490525-121490526	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121469400-121489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:121477200-121494000	Weak transcription	Right Ventricle	heart
3	chr3:121478000-121499400	Weak transcription	HepG2	liver
4	chr3:121483200-121490600	Weak transcription	A549	lung
5	chr3:121483600-121498600	Weak transcription	Fetal Kidney	kidney
6	chr3:121483800-121498400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:121484400-121490600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:121484400-121494000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:121484600-121499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:121485200-121491000	Weak transcription	HUVEC	blood vessel
11	chr3:121485400-121493200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:121485600-121497200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:121485600-121503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:121485800-121501000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr3:121486000-121489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:121486000-121491400	Weak transcription	NHLF	lung
17	chr3:121486200-121491200	Weak transcription	NHEK	skin
18	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
19	chr3:121486800-121496000	Weak transcription	Hela-S3	cervix
20	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:121487000-121494000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:121487000-121498800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:121487000-121509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:121487200-121501600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:121487400-121489800	Strong transcription	Ovary	ovary
26	chr3:121487400-121489800	Strong transcription	GM12878-XiMat	blood
27	chr3:121487400-121490000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:121487400-121491600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:121487400-121491600	Strong transcription	NHDF-Ad	bronchial
30	chr3:121487400-121492000	Strong transcription	Adipose Nuclei	Adipose
31	chr3:121487400-121492600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:121487400-121493000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:121487400-121493400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:121487400-121494200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:121487400-121494800	Strong transcription	HSMM	muscle
36	chr3:121487400-121495200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:121487400-121497200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:121487400-121499200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:121487400-121501400	Strong transcription	Primary T cells from cord blood	blood
40	chr3:121487400-121501400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:121487400-121502000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:121487400-121503000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:121487400-121512200	Strong transcription	Fetal Thymus	thymus
44	chr3:121487400-121512400	Strong transcription	Dnd41	blood
45	chr3:121487600-121495600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:121487600-121497200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:121487600-121498800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:121487800-121489600	Weak transcription	Colon Smooth Muscle	Colon
49	chr3:121487800-121491600	Strong transcription	Placenta	Placenta
50	chr3:121487800-121497600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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