Variant report

Variant	nsv1013788
Chromosome Location	chr3:119866722-119912297
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:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:119880098..119883232-chr3:119884308..119887648,3	K562	blood:
2	chr3:119865007..119867802-chr3:119897494..119899931,3	MCF-7	breast:
3	chr3:119862753..119866394-chr3:119887362..119889316,3	MCF-7	breast:
4	chr3:119879142..119881480-chr3:119885848..119888163,2	MCF-7	breast:
5	chr3:119887283..119893170-chr3:119894592..119900399,7	MCF-7	breast:
6	chr3:119872811..119874863-chr3:119883837..119886069,2	MCF-7	breast:
7	chr3:119631850..119633984-chr3:119885816..119888586,2	MCF-7	breast:
8	chr3:119867871..119870349-chr3:119875712..119877295,2	MCF-7	breast:
9	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
10	chr3:119812524..119815234-chr3:119878951..119881345,2	MCF-7	breast:
11	chr3:119866110..119866732-chr3:119901277..119902219,2	MCF-7	breast:
12	chr3:119810057..119817149-chr3:119894256..119903865,22	MCF-7	breast:
13	chr3:119867871..119870349-chr3:119875712..119877295,2	MCF-7	breast:
14	chr3:119874448..119876522-chr3:119878806..119880321,2	MCF-7	breast:
15	chr3:119864495..119866427-chr3:119878369..119880021,2	K562	blood:
16	chr3:119880098..119883232-chr3:119884308..119887648,3	K562	blood:
17	chr3:119888337..119890858-chr3:119891647..119894832,5	MCF-7	breast:
18	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
19	chr3:119879142..119881480-chr3:119885848..119888163,2	MCF-7	breast:
20	chr3:119811552..119816110-chr3:119876873..119880386,8	MCF-7	breast:
21	chr3:119814064..119816166-chr3:119898590..119900183,2	K562	blood:
22	chr3:119887283..119893170-chr3:119894592..119900399,7	MCF-7	breast:
23	chr3:119527283..119529245-chr3:119900596..119902132,2	MCF-7	breast:
24	chr3:119865007..119867802-chr3:119897494..119899931,3	MCF-7	breast:
25	chr3:119814051..119815818-chr3:119873441..119876430,2	MCF-7	breast:
26	chr3:119811496..119816423-chr3:119884642..119891818,9	MCF-7	breast:
27	chr3:119864581..119866968-chr3:119914610..119916835,2	MCF-7	breast:
28	chr3:119866110..119866732-chr3:119901277..119902219,2	MCF-7	breast:
29	chr3:119814363..119814891-chr3:119901625..119902317,2	Hela-S3	cervix:
30	chr3:119879846..119883232-chr3:119884933..119889018,3	K562	blood:
31	chr3:119878912..119881945-chr3:119899697..119902370,3	MCF-7	breast:
32	chr3:119829682..119832031-chr3:119864501..119867434,2	MCF-7	breast:
33	chr3:119539576..119540526-chr3:119901251..119902442,9	MCF-7	breast:
34	chr3:119865823..119868383-chr3:119871262..119874013,2	MCF-7	breast:
35	chr3:119871941..119873702-chr3:119897791..119900404,2	MCF-7	breast:
36	chr3:119856115..119856652-chr3:119901410..119902399,3	MCF-7	breast:
37	chr3:119811321..119815437-chr3:119887238..119891326,6	MCF-7	breast:
38	chr3:119872811..119874863-chr3:119883837..119886069,2	MCF-7	breast:
39	chr3:119865823..119868383-chr3:119871262..119874013,2	MCF-7	breast:
40	chr3:119879846..119883232-chr3:119884933..119889018,3	K562	blood:
41	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
42	chr3:119888337..119890858-chr3:119891647..119894832,5	MCF-7	breast:
43	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:
44	chr3:119896267..119897823-chr3:119902121..119903746,2	MCF-7	breast:
45	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:
46	chr3:119832637..119834179-chr3:119912112..119915097,2	MCF-7	breast:
47	chr3:119905802..119907944-chr3:119913665..119916564,2	MCF-7	breast:
48	chr3:119610502..119611380-chr3:119901494..119902513,3	MCF-7	breast:
49	chr3:119878912..119881945-chr3:119899697..119902370,3	MCF-7	breast:
50	chr3:119812784..119818369-chr3:119882594..119887208,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082701	chromatin interactions
ENSG00000242622	chromatin interactions

Extended variants
information (count: 1679 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1679 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562261035	chr3:119866742-119866743	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546142905	chr3:119866814-119866815	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76067612	chr3:119866925-119866926	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6438559	chr3:119867015-119867016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372032067	chr3:119867027-119867028	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531959302	chr3:119867036-119867037	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78979193	chr3:119867071-119867072	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs57268042	chr3:119867076-119867077	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374932045	chr3:119867126-119867127	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568530844	chr3:119867166-119867167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141691877	chr3:119867177-119867178	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs567500837	chr3:119867203-119867204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554373392	chr3:119867222-119867223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs568244377	chr3:119867252-119867253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533778867	chr3:119867287-119867288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs6438560	chr3:119867288-119867289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs56220704	chr3:119867289-119867290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143410268	chr3:119867297-119867298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539757823	chr3:119867344-119867345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191198813	chr3:119867345-119867346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs150106248	chr3:119867362-119867363	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs6782570	chr3:119867366-119867367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562081330	chr3:119867369-119867370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572585612	chr3:119867387-119867388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541293466	chr3:119867418-119867419	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572104538	chr3:119867498-119867499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369049619	chr3:119867500-119867501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182568438	chr3:119867523-119867524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533412967	chr3:119867532-119867533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549990135	chr3:119867591-119867592	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs6769988	chr3:119867624-119867625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562098626	chr3:119867636-119867637	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531257160	chr3:119867695-119867696	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576341252	chr3:119867744-119867745	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs6794478	chr3:119867803-119867804	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559170425	chr3:119867807-119867808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs547577466	chr3:119867897-119867898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570668114	chr3:119867909-119867910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539697237	chr3:119867915-119867916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10934511	chr3:119867927-119867928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs576373964	chr3:119867930-119867931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545038491	chr3:119867997-119867998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541355273	chr3:119868018-119868019	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs555810533	chr3:119868020-119868021	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572421121	chr3:119868046-119868047	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541531028	chr3:119868053-119868054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs564301533	chr3:119868082-119868083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs577821996	chr3:119868101-119868102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374100242	chr3:119868108-119868109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs58452384	chr3:119868117-119868118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	21339820	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
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119862000-119867800	Enhancers	Placenta	Placenta
2	chr3:119862600-119868000	Enhancers	HMEC	breast
3	chr3:119863000-119867200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:119863000-119867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:119863400-119867600	Enhancers	Fetal Intestine Small	intestine
6	chr3:119864200-119868000	Enhancers	Fetal Intestine Large	intestine
7	chr3:119864600-119871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:119864800-119866800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:119864800-119871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:119865000-119870800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:119865000-119870800	Weak transcription	Osteobl	bone
12	chr3:119865200-119867800	Enhancers	Hela-S3	cervix
13	chr3:119865200-119870200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:119865600-119866800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:119865600-119867200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:119865600-119867200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:119865600-119867200	Flanking Active TSS	NHEK	skin
18	chr3:119865600-119868400	Enhancers	Primary T cells from cord blood	blood
19	chr3:119865600-119868400	Enhancers	Fetal Thymus	thymus
20	chr3:119865600-119868600	Enhancers	Thymus	Thymus
21	chr3:119865600-119868600	Enhancers	Dnd41	blood
22	chr3:119865800-119866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr3:119865800-119867000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:119865800-119867800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:119866000-119866800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:119866000-119866800	Enhancers	Spleen	Spleen
27	chr3:119866000-119866800	Enhancers	A549	lung
28	chr3:119866000-119867000	Enhancers	Duodenum Mucosa	Duodenum
29	chr3:119866000-119867000	Enhancers	Right Atrium	heart
30	chr3:119866000-119867000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:119866000-119867200	Enhancers	Psoas Muscle	Psoas
32	chr3:119866000-119867200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr3:119866000-119867200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:119866000-119867600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:119866000-119867600	Enhancers	Small Intestine	intestine
36	chr3:119866000-119867800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:119866000-119867800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:119866000-119867800	Enhancers	Adipose Nuclei	Adipose
39	chr3:119866000-119867800	Enhancers	Fetal Lung	lung
40	chr3:119866000-119867800	Enhancers	Left Ventricle	heart
41	chr3:119866000-119867800	Enhancers	HUVEC	blood vessel
42	chr3:119866200-119866800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:119866200-119866800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr3:119866200-119866800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:119866200-119866800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:119866200-119866800	Enhancers	Fetal Heart	heart
47	chr3:119866200-119867000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:119866200-119867600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:119866200-119868200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:119866200-119868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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