Variant report

Variant	nsv237910
Chromosome Location	chr3:135983304-135986929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135968510..135970353-chr3:135983958..135985710,2	K562	blood:
2	chr3:135912197..135914023-chr3:135984563..135987150,2	MCF-7	breast:
3	chr3:135914799..135916936-chr3:135981724..135984438,2	MCF-7	breast:
4	chr3:135978278..135980985-chr3:135981419..135984016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114054	chromatin interactions
ENSG00000174579	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528986250	chr3:135983305-135983306	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557413411	chr3:135983337-135983338	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572124340	chr3:135983341-135983342	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4484145	chr3:135983440-135983441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs28804502	chr3:135983493-135983494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs866782	chr3:135983497-135983498	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147087364	chr3:135983517-135983518	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs865113	chr3:135983534-135983535	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572383204	chr3:135983549-135983550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188222311	chr3:135983552-135983553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561115780	chr3:135983560-135983561	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376616739	chr3:135983576-135983577	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370741735	chr3:135983585-135983586	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574673231	chr3:135983586-135983587	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9864912	chr3:135983597-135983598	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543574846	chr3:135983630-135983631	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs180740502	chr3:135983641-135983642	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575638097	chr3:135983674-135983675	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184998281	chr3:135983681-135983682	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552166002	chr3:135983695-135983696	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374563508	chr3:135983716-135983717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs71624091	chr3:135983737-135983738	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111585660	chr3:135983759-135983760	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147726582	chr3:135983766-135983767	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1711166	chr3:135983768-135983769	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs111731062	chr3:135983797-135983798	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561557272	chr3:135983803-135983804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200945073	chr3:135983821-135983822	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201898305	chr3:135983824-135983825	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537226380	chr3:135983833-135983834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191022160	chr3:135983863-135983864	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570940446	chr3:135983870-135983871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539510962	chr3:135983893-135983894	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs376223249	chr3:135983925-135983926	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553337221	chr3:135983991-135983992	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376237339	chr3:135984021-135984022	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs534958929	chr3:135984061-135984062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554886434	chr3:135984063-135984064	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146577064	chr3:135984135-135984136	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544388201	chr3:135984142-135984143	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563303856	chr3:135984211-135984212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576880478	chr3:135984236-135984237	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371379549	chr3:135984329-135984330	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372512745	chr3:135984344-135984345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76114848	chr3:135984377-135984378	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545534623	chr3:135984423-135984424	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs374547739	chr3:135984461-135984462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558969282	chr3:135984464-135984465	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528062303	chr3:135984565-135984566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148291262	chr3:135984609-135984610	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970200-135984000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:135970200-135996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:135970400-135995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:135970600-135985200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:135970600-135985200	Weak transcription	HMEC	breast
6	chr3:135970600-135987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:135970600-135998800	Weak transcription	Fetal Brain Male	brain
8	chr3:135970600-135999200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:135970600-135999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:135970800-135986000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:135970800-135995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:135970800-135998000	Weak transcription	Hela-S3	cervix
14	chr3:135973400-135984200	Strong transcription	Fetal Stomach	stomach
15	chr3:135974000-135983400	Strong transcription	Fetal Thymus	thymus
16	chr3:135974000-135986800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:135974000-135986800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:135974000-135989400	Strong transcription	Dnd41	blood
19	chr3:135974200-135983400	Strong transcription	Fetal Muscle Leg	muscle
20	chr3:135974200-135989600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:135974200-135989600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:135974400-135983600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr3:135974400-135984600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:135974400-135984600	Strong transcription	Liver	Liver
25	chr3:135974400-135986400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:135974400-135989600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:135974600-135983400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:135974600-135985200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:135974600-135986400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:135974800-135983400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:135974800-135986200	Strong transcription	Placenta	Placenta
32	chr3:135974800-135997800	Weak transcription	Stomach Mucosa	stomach
33	chr3:135975000-135983400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:135975000-135984600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:135975200-135983600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:135975200-135985200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:135975200-135987800	Strong transcription	Fetal Intestine Large	intestine
38	chr3:135975800-135987200	Weak transcription	Thymus	Thymus
39	chr3:135976200-135996000	Weak transcription	Pancreas	Pancrea
40	chr3:135976200-135999400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:135976200-136012400	Weak transcription	NHLF	lung
42	chr3:135976200-136016400	Weak transcription	Colonic Mucosa	Colon
43	chr3:135976200-136021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:135976400-135989000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:135977400-135995600	Weak transcription	Fetal Lung	lung
46	chr3:135977400-135996000	Weak transcription	K562	blood
47	chr3:135977600-135985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:135977600-135995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:135977800-135993600	Weak transcription	Fetal Kidney	kidney
50	chr3:135978800-135983400	Strong transcription	Primary T cells from cord blood	blood

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