Variant report

Variant	nsv963553
Chromosome Location	chr3:110910542-110913573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:110911278-110911328	T-47D	breast:	n/a
2	chr3:110911278-110911328	LNCaP	prostate:	n/a
3	chr3:110911278-110911328	SK-N-SH_RA	brain:	n/a
4	chr3:110911278-110911328	AG09309	skin:	n/a
5	chr3:110911278-110911328	IMR90	lung:	fetal
6	chr3:110911278-110911328	BE2_C	brain:	n/a
7	chr3:110911278-110911328	HCT-116	colon:	n/a
8	chr3:110911278-110911328	PANC-1	pancreas:	n/a
9	chr3:110911278-110911328	GM12891	blood:	n/a
10	chr3:110911278-110911328	CMK	blood:	n/a
11	chr3:110911278-110911328	ovcar-3	ovarian:	n/a
12	chr3:110911278-110911328	AG09319	gingival:	n/a
13	chr3:110911278-110911328	PFSK-1	brain:	n/a
14	chr3:110911278-110911328	U87	brain:	n/a
15	chr3:110911278-110911328	Hepatocyte	liver:	n/a
16	chr3:110911278-110911328	HUVEC	blood vessel:	n/a
17	chr3:110911278-110911328	NB4	blood:	n/a
18	chr3:110911278-110911328	HEK293	kidney:	embryo
19	chr3:110911278-110911328	K562	blood:	n/a
20	chr3:110911278-110911328	HRCEpiC	kidney:	n/a
21	chr3:110911278-110911328	AoSMC	blood vessel:	n/a
22	chr3:110911278-110911328	GM19239	blood:	n/a
23	chr3:110911278-110911328	NHBE	bronchial:	n/a
24	chr3:110911278-110911328	SK-N-MC	brain:	n/a
25	chr3:110911278-110911328	HepG2	liver:	n/a
26	chr3:110911278-110911328	HRPEpiC	eye:	n/a
27	chr3:110911278-110911328	HCPEpiC	choroid plexus:	n/a
28	chr3:110911278-110911328	AG04449	skin:	fetal
29	chr3:110911278-110911328	NH-A	brain:	n/a
30	chr3:110911278-110911328	HNPCEpiC	eye:	n/a
31	chr3:110911278-110911328	HEEpiC	esophagus:	n/a
32	chr3:110911278-110911328	SKMC	muscle:	n/a
33	chr3:110911278-110911328	NT2-D1	testis:	n/a
34	chr3:110911278-110911328	H1-hESC	embryonic stem cell:	embryo
35	chr3:110911278-110911328	HMEC	breast:	n/a
36	chr3:110911278-110911328	HAEpiC	amniotic membrane:	n/a
37	chr3:110911278-110911328	HCF	heart:	n/a
38	chr3:110911278-110911328	ProgFib	skin:	n/a
39	chr3:110911278-110911328	Caco-2	colon:	n/a
40	chr3:110911278-110911328	AG10803	skin:	n/a
41	chr3:110911278-110911328	SAEC	small airway:	n/a
42	chr3:110911278-110911328	MCF-7	breast:	n/a
43	chr3:110911278-110911328	Hela-S3	cervix:	n/a
44	chr3:110911278-110911328	HCM	heart:	n/a
45	chr3:110911278-110911328	ECC-1	luminal epithelium:	n/a
46	chr3:110911278-110911328	RPTEC	kidney:	n/a
47	chr3:110911278-110911328	HPAEpiC	pulmonary alveolar:	n/a
48	chr3:110911278-110911328	PrEC	prostate:	n/a
49	chr3:110911278-110911328	BJ	skin:	n/a
50	chr3:110911278-110911328	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
PVRL3	CpG island

Extended variants
information (count: 104 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150358596	chr3:110910557-110910558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529639981	chr3:110910633-110910634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550074841	chr3:110910641-110910642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187381713	chr3:110910664-110910665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190406930	chr3:110910703-110910704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558796503	chr3:110910718-110910719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565836309	chr3:110910743-110910744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138074533	chr3:110910746-110910747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73229200	chr3:110910774-110910775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11713977	chr3:110910806-110910807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574013423	chr3:110910813-110910814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113436544	chr3:110910867-110910868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181641378	chr3:110910910-110910911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576337301	chr3:110910912-110910913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139817505	chr3:110910978-110910979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62273802	chr3:110911019-110911020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186841197	chr3:110911034-110911035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527841689	chr3:110911035-110911036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370937127	chr3:110911051-110911052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555899348	chr3:110911083-110911084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137968265	chr3:110911084-110911085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141579528	chr3:110911131-110911132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189999436	chr3:110911163-110911164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560798309	chr3:110911241-110911242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146210788	chr3:110911249-110911250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148438454	chr3:110911279-110911280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142912586	chr3:110911285-110911286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532455083	chr3:110911289-110911290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563693265	chr3:110911346-110911347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182456286	chr3:110911351-110911352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565898267	chr3:110911373-110911374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549978125	chr3:110911383-110911384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73854929	chr3:110911392-110911393	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567652461	chr3:110911393-110911394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536709724	chr3:110911444-110911445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556284828	chr3:110911465-110911466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576000164	chr3:110911484-110911485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185611762	chr3:110911488-110911489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558806523	chr3:110911490-110911491	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538342306	chr3:110911520-110911521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572331023	chr3:110911522-110911523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541260410	chr3:110911589-110911590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139953013	chr3:110911623-110911624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576188305	chr3:110911627-110911628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189672668	chr3:110911722-110911723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144937262	chr3:110911775-110911776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182749432	chr3:110911800-110911801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563296951	chr3:110911816-110911817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72937987	chr3:110911837-110911838	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147865085	chr3:110911868-110911869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:110842600-110911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
6	chr3:110853200-110911000	Weak transcription	NH-A	brain
7	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:110874400-110911800	Weak transcription	Left Ventricle	heart
13	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:110881000-110928000	Weak transcription	Osteobl	bone
15	chr3:110890200-110913200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:110890800-110919800	Weak transcription	Brain Hippocampus Middle	brain
17	chr3:110892000-110915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:110892400-110911200	Weak transcription	Liver	Liver
19	chr3:110892400-110912800	Weak transcription	HepG2	liver
20	chr3:110892800-110911000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:110892800-110911000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:110892800-110911200	Weak transcription	Adipose Nuclei	Adipose
23	chr3:110892800-110911600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:110893000-110911400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:110893000-110916200	Weak transcription	A549	lung
26	chr3:110893200-110912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:110893200-110912200	Weak transcription	NHDF-Ad	bronchial
28	chr3:110893400-110911400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:110894000-110922800	Weak transcription	Gastric	stomach
30	chr3:110894000-110924000	Weak transcription	Fetal Stomach	stomach
31	chr3:110894000-110934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:110894200-110911400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:110894200-110913800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:110894200-110914200	Weak transcription	Aorta	Aorta
35	chr3:110894200-110924800	Weak transcription	Fetal Intestine Small	intestine
36	chr3:110894200-110925600	Weak transcription	NHLF	lung
37	chr3:110894200-110929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:110898400-110911400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:110899200-110935200	Weak transcription	Lung	lung
40	chr3:110901400-110918000	Weak transcription	Small Intestine	intestine
41	chr3:110903000-110918200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:110903400-110916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:110903400-110929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:110904200-110912400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:110904200-110912600	Weak transcription	Fetal Kidney	kidney
46	chr3:110904600-110911600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:110907000-110911400	Weak transcription	Fetal Heart	heart
48	chr3:110907400-110914000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:110907600-110917200	Strong transcription	Fetal Lung	lung
50	chr3:110907800-110915400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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