Variant report

Variant	nsv983009
Chromosome Location	chr11:47816899-47819128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:47816903-47817447	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr11:47816950-47817461	SK-N-SH	brain:	n/a	n/a
3	JUND	chr11:47819047-47819669	SK-N-SH	brain:	n/a	chr11:47819092-47819101 chr11:47819384-47819395
4	POLR2A	chr11:47818409-47818464	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47818798-47819059	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:47817812-47818131	K562	blood:	n/a	n/a
7	STAT3	chr11:47819099-47819567	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT5A	chr11:47819116-47819494	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47806353..47811128-chr11:47812810..47817324,4	K562	blood:
2	chr11:47787574..47789609-chr11:47817682..47819255,2	MCF-7	breast:
3	chr11:47818760..47820881-chr11:47831496..47834034,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRJ-3	chr11:47817721-47817931	NONHSAT021281

Variant related genes	Relation type
ENSG00000271543	TF binding region
ENSG00000109920	chromatin interactions
ENSG00000030066	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541887018	chr11:47816900-47816901	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191325058	chr11:47816907-47816908	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572803128	chr11:47816909-47816910	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2869539	chr11:47816930-47816931	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371278096	chr11:47817008-47817009	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs3886262	chr11:47817010-47817011	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs564716706	chr11:47817062-47817063	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533224930	chr11:47817070-47817071	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550248127	chr11:47817089-47817090	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537774993	chr11:47817094-47817095	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529237893	chr11:47817097-47817098	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138531897	chr11:47817182-47817183	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567986647	chr11:47817188-47817189	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533851048	chr11:47817250-47817251	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2904127	chr11:47817290-47817291	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs2904128	chr11:47817292-47817293	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539301486	chr11:47817293-47817294	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs556214137	chr11:47817302-47817303	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375120592	chr11:47817344-47817345	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576239241	chr11:47817404-47817405	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557501221	chr11:47817412-47817413	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12269897	chr11:47817430-47817431	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7120333	chr11:47817441-47817442	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs188113527	chr11:47817563-47817564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543287645	chr11:47817566-47817567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541716509	chr11:47817657-47817658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144503938	chr11:47817687-47817688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35398008	chr11:47817705-47817706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs397724112	chr11:47817725-47817726	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs78649956	chr11:47817727-47817728	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs578118263	chr11:47817731-47817732	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs543692287	chr11:47817736-47817737	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs373962088	chr11:47817737-47817738	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs559811573	chr11:47817745-47817746	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs528487653	chr11:47817768-47817769	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs368907591	chr11:47817782-47817783	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs545384433	chr11:47817789-47817790	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs563419912	chr11:47817809-47817810	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs529369744	chr11:47817824-47817825	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs148424889	chr11:47817826-47817827	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs192719331	chr11:47817898-47817899	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs553928873	chr11:47818031-47818032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565383786	chr11:47818035-47818036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185035430	chr11:47818046-47818047	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556013372	chr11:47818051-47818052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145804145	chr11:47818065-47818066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369702403	chr11:47818072-47818073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570694978	chr11:47818123-47818124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533134413	chr11:47818152-47818153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549735617	chr11:47818175-47818176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790000-47837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47790800-47832200	Weak transcription	Small Intestine	intestine
4	chr11:47795200-47845600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
6	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:47796200-47834000	Strong transcription	Fetal Stomach	stomach
8	chr11:47796200-47837800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:47796200-47843600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:47796200-47845200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:47796200-47845600	Strong transcription	Placenta	Placenta
12	chr11:47796200-47849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:47796200-47849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:47796200-47850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:47796400-47824800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:47796400-47844000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:47796400-47848800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:47796400-47848800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:47796400-47850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:47796400-47858800	Strong transcription	Liver	Liver
27	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:47796600-47843600	Strong transcription	Brain Germinal Matrix	brain
29	chr11:47796600-47850800	Strong transcription	Hela-S3	cervix
30	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:47796800-47837600	Strong transcription	Dnd41	blood
32	chr11:47796800-47843800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:47796800-47852000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:47798400-47837800	Strong transcription	Thymus	Thymus
36	chr11:47798400-47845200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr11:47798400-47864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:47798600-47819000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:47798600-47819000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:47798600-47851600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:47798800-47820800	Strong transcription	A549	lung
42	chr11:47801000-47833200	Weak transcription	Stomach Mucosa	stomach
43	chr11:47804800-47819400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:47805000-47833000	Strong transcription	Fetal Intestine Small	intestine
45	chr11:47805200-47846200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:47806400-47823600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr11:47807000-47865600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:47807800-47819800	Weak transcription	Psoas Muscle	Psoas
49	chr11:47808200-47820200	Weak transcription	Esophagus	oesophagus
50	chr11:47808200-47833200	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links