Variant report

Variant	nsv967231
Chromosome Location	chr3:133306231-133309713
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:3)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:133305768..133309536-chr3:133310888..133314653,6	MCF-7	breast:
2	chr3:133306574..133308924-chr3:133376358..133378163,2	K562	blood:
3	chr3:133291215..133294637-chr3:133308784..133312261,4	K562	blood:
4	chr3:96497113..96498617-chr3:133306400..133308634,2	K562	blood:
5	chr3:133307012..133310394-chr3:133313467..133316837,3	K562	blood:
6	chr3:133292695..133294577-chr3:133308068..133311050,2	K562	blood:
7	chr3:133291708..133297732-chr3:133303856..133308533,6	MCF-7	breast:
8	chr3:133307360..133309319-chr3:133336112..133338472,2	K562	blood:
9	chr3:133300058..133302807-chr3:133305783..133309305,4	MCF-7	breast:
10	chr17:57914542..57916822-chr3:133306892..133309172,2	MCF-7	breast:
11	chr3:133308371..133310394-chr3:133314281..133316837,2	K562	blood:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CDV3	hsa-miR-103a-3p	chr3:133307233-133307239
2	CDV3	hsa-miR-16-5p	chr3:133307870-133307892
3	CDV3	hsa-miR-16-5p	chr3:133307885-133307892

Variant related genes	Relation type
ENSG00000091527	chromatin interactions
ENSG00000163781	chromatin interactions
ENSG00000062716	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13070423	chr3:133306267-133306268	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13070040	chr3:133306270-133306271	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77613106	chr3:133306286-133306287	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13092988	chr3:133306300-133306301	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13070459	chr3:133306337-133306338	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs13070184	chr3:133306360-133306361	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13070621	chr3:133306361-133306362	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116168356	chr3:133306400-133306401	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529507877	chr3:133306438-133306439	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78836194	chr3:133306454-133306455	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539548510	chr3:133306466-133306467	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372848332	chr3:133306499-133306500	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6776497	chr3:133306518-133306519	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190687294	chr3:133306519-133306520	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572972563	chr3:133306543-133306544	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35489019	chr3:133306547-133306548	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182819820	chr3:133306549-133306550	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367780376	chr3:133306643-133306644	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs188339131	chr3:133306654-133306655	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191289423	chr3:133306662-133306663	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532826204	chr3:133306665-133306666	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182764695	chr3:133306677-133306678	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs34062652	chr3:133306678-133306679	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371435315	chr3:133306769-133306770	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143704956	chr3:133306790-133306791	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555406885	chr3:133306805-133306806	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375027959	chr3:133306810-133306811	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200087138	chr3:133306817-133306818	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186791850	chr3:133306820-133306821	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369849075	chr3:133306822-133306823	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs151259171	chr3:133306828-133306829	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376528402	chr3:133306852-133306853	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558085907	chr3:133306868-133306869	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201362523	chr3:133306880-133306881	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369205277	chr3:133306884-133306885	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369631955	chr3:133306900-133306901	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373292500	chr3:133306929-133306930	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376601686	chr3:133306935-133306936	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs201232734	chr3:133306938-133306939	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554287265	chr3:133307013-133307014	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574319565	chr3:133307020-133307021	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546131167	chr3:133307037-133307038	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543174339	chr3:133307091-133307092	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112731334	chr3:133307116-133307117	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563062836	chr3:133307161-133307162	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111432178	chr3:133307166-133307167	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531986927	chr3:133307167-133307168	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543876696	chr3:133307243-133307244	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs146802459	chr3:133307282-133307283	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532760243	chr3:133307300-133307301	Strong transcription Weak transcription Genic enhancers	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
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133294600-133308800	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr3:133294800-133309800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr3:133295200-133308400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:133295400-133308800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:133295400-133308800	Strong transcription	Fetal Intestine Large	intestine
6	chr3:133295400-133309200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:133295400-133309200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:133295600-133308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:133295600-133309200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:133295600-133309200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:133295600-133309400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:133295600-133310400	Strong transcription	Fetal Stomach	stomach
13	chr3:133297600-133308400	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr3:133297600-133308600	Strong transcription	Fetal Muscle Leg	muscle
15	chr3:133297600-133308800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr3:133297600-133309400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:133297600-133309400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:133297600-133310200	Weak transcription	Right Atrium	heart
19	chr3:133298000-133308800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:133298000-133309000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:133298000-133309000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:133298200-133307200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:133298200-133307600	Strong transcription	Osteobl	bone
24	chr3:133298200-133307800	Weak transcription	Fetal Heart	heart
25	chr3:133298200-133308000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:133298200-133308600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:133298200-133308600	Strong transcription	HUVEC	blood vessel
28	chr3:133298200-133308800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:133298200-133308800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:133298200-133308800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:133298200-133308800	Strong transcription	Dnd41	blood
32	chr3:133298200-133309200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:133298600-133306800	Weak transcription	Gastric	stomach
34	chr3:133298600-133308800	Strong transcription	Thymus	Thymus
35	chr3:133298600-133309000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:133298600-133309400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:133298800-133306800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:133299000-133308800	Strong transcription	Placenta	Placenta
39	chr3:133299600-133308600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:133299600-133309200	Strong transcription	Rectal Smooth Muscle	rectum
41	chr3:133300000-133307800	Strong transcription	Hela-S3	cervix
42	chr3:133300000-133307800	Strong transcription	HMEC	breast
43	chr3:133300000-133308000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:133300200-133308600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr3:133300200-133308800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:133300200-133308800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:133300200-133309200	Strong transcription	Fetal Thymus	thymus
48	chr3:133300400-133306400	Strong transcription	Colonic Mucosa	Colon
49	chr3:133300400-133307200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr3:133300400-133308800	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links