Variant report

Variant	nsv932985
Chromosome Location	chr3:121491698-121507705
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:121503081..121505086-chr3:121506757..121508419,2	MCF-7	breast:
2	chr3:121498622..121501358-chr3:121516478..121520165,3	K562	blood:
3	chr3:121465792..121467849-chr3:121506947..121509810,2	MCF-7	breast:
4	chr3:121469877..121471972-chr3:121492602..121496614,3	MCF-7	breast:
5	chr3:121506422..121509070-chr8:140207889..140210242,2	MCF-7	breast:
6	chr3:121498095..121500834-chr3:121519561..121521853,2	MCF-7	breast:
7	chr3:121467012..121468872-chr3:121497034..121500161,3	K562	blood:
8	chr3:121506516..121509256-chr3:121552587..121555250,2	MCF-7	breast:
9	chr3:121466769..121469107-chr3:121494508..121496191,2	MCF-7	breast:
10	chr3:121467285..121470096-chr3:121490957..121493415,2	K562	blood:
11	chr3:121503081..121505086-chr3:121506757..121508419,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145088	chromatin interactions
ENSG00000173226	chromatin interactions
ENSG00000173230	chromatin interactions

Extended variants
information (count: 585 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577419185	chr3:121491706-121491707	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547955187	chr3:121491744-121491745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9819176	chr3:121491799-121491800	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141609267	chr3:121491808-121491809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9856846	chr3:121491814-121491815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548253573	chr3:121491837-121491838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116094962	chr3:121491870-121491871	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35713885	chr3:121491891-121491892	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs556582359	chr3:121491892-121491893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9843095	chr3:121491897-121491898	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535869676	chr3:121491949-121491950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs36022362	chr3:121491951-121491952	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs113175964	chr3:121491965-121491966	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572550656	chr3:121491977-121491978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9823335	chr3:121491987-121491988	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs553927725	chr3:121491988-121491989	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576965287	chr3:121492013-121492014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373193911	chr3:121492023-121492024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571057702	chr3:121492079-121492080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540120119	chr3:121492083-121492084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529640582	chr3:121492160-121492161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs67845932	chr3:121492161-121492162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376305186	chr3:121492165-121492166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374431850	chr3:121492166-121492167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs57420306	chr3:121492195-121492196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs77790376	chr3:121492211-121492212	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
27	rs531179829	chr3:121492316-121492317	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144083987	chr3:121492338-121492339	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372736044	chr3:121492363-121492364	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189770485	chr3:121492439-121492440	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561381997	chr3:121492459-121492460	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9824133	chr3:121492465-121492466	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs547223547	chr3:121492468-121492469	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs570978977	chr3:121492485-121492486	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533373949	chr3:121492525-121492526	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs180844648	chr3:121492535-121492536	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13098883	chr3:121492599-121492600	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs536185497	chr3:121492683-121492684	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555787424	chr3:121492727-121492728	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146491507	chr3:121492741-121492742	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4676745	chr3:121492749-121492750	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs4676746	chr3:121492767-121492768	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs4676747	chr3:121492781-121492782	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs577102627	chr3:121492853-121492854	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545700671	chr3:121492857-121492858	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535106230	chr3:121492873-121492874	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546065117	chr3:121492922-121492923	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35717817	chr3:121492923-121492924	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139953426	chr3:121492937-121492938	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575914883	chr3:121492993-121492994	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	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:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121477200-121494000	Weak transcription	Right Ventricle	heart
2	chr3:121478000-121499400	Weak transcription	HepG2	liver
3	chr3:121483600-121498600	Weak transcription	Fetal Kidney	kidney
4	chr3:121483800-121498400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:121484400-121494000	Weak transcription	Brain Angular Gyrus	brain
6	chr3:121484600-121499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:121485400-121493200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:121485600-121497200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:121485600-121503200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:121485800-121501000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
12	chr3:121486800-121496000	Weak transcription	Hela-S3	cervix
13	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:121487000-121494000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:121487000-121498800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:121487000-121509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:121487200-121501600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:121487400-121492000	Strong transcription	Adipose Nuclei	Adipose
19	chr3:121487400-121492600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:121487400-121493000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:121487400-121493400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:121487400-121494200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:121487400-121494800	Strong transcription	HSMM	muscle
24	chr3:121487400-121495200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:121487400-121497200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:121487400-121499200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:121487400-121501400	Strong transcription	Primary T cells from cord blood	blood
28	chr3:121487400-121501400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:121487400-121502000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:121487400-121503000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:121487400-121512200	Strong transcription	Fetal Thymus	thymus
32	chr3:121487400-121512400	Strong transcription	Dnd41	blood
33	chr3:121487600-121495600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:121487600-121497200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:121487600-121498800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:121487800-121497600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:121487800-121509000	Strong transcription	Fetal Intestine Large	intestine
38	chr3:121487800-121516400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:121487800-121519000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:121488000-121492000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:121488000-121507200	Weak transcription	Brain Substantia Nigra	brain
42	chr3:121488000-121511000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr3:121488000-121512200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:121488000-121512600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:121488200-121493800	Strong transcription	Primary B cells from cord blood	blood
46	chr3:121488200-121501800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:121488400-121505600	Weak transcription	Fetal Heart	heart
48	chr3:121488400-121509600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:121488600-121491800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:121488600-121494200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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