Variant report

Variant	esv3516460
Chromosome Location	chr11:3982302-3983004
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	POLR2A	chr11:3982843-3983027	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3979407..3982038-chr11:3982601..3985547,3	K562	blood:
2	chr11:3973583..3975273-chr11:3982575..3984995,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRM1-8	chr11:3982507-3982768	NONHSAT017631

Variant related genes	Relation type
ENSG00000255232	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538251647	chr11:3982328-3982329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187515094	chr11:3982337-3982338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78975511	chr11:3982356-3982357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565623652	chr11:3982362-3982363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142296787	chr11:3982370-3982371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192326087	chr11:3982377-3982378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554708920	chr11:3982378-3982379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576265767	chr11:3982389-3982390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543684460	chr11:3982390-3982391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558573557	chr11:3982392-3982393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61188198	chr11:3982408-3982409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397972736	chr11:3982412-3982413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577099233	chr11:3982436-3982437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545061599	chr11:3982532-3982533	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs12223176	chr11:3982537-3982538	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574194762	chr11:3982597-3982598	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs542662263	chr11:3982615-3982616	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs373937856	chr11:3982617-3982618	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs116715480	chr11:3982629-3982630	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs184831664	chr11:3982669-3982670	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565416885	chr11:3982724-3982725	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs377127220	chr11:3982727-3982728	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs576284240	chr11:3982739-3982740	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs28586875	chr11:3982741-3982742	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs28380349	chr11:3982743-3982744	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200357765	chr11:3982744-3982745	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs7925954	chr11:3982746-3982747	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs368402572	chr11:3982747-3982748	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs547790868	chr11:3982748-3982749	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs565624813	chr11:3982787-3982788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7938862	chr11:3982792-3982793	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544016217	chr11:3982796-3982797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569815271	chr11:3982808-3982809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112842567	chr11:3982809-3982810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563871768	chr11:3982826-3982827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368368268	chr11:3982831-3982832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148269497	chr11:3982841-3982842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12283447	chr11:3982842-3982843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs534887203	chr11:3982849-3982850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113155104	chr11:3982858-3982859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113418571	chr11:3982861-3982862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192607355	chr11:3982922-3982923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113618957	chr11:3982931-3982932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542651665	chr11:3982938-3982939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543764745	chr11:3982946-3982947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:3970800-3988600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr11:3971400-3988400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:3972800-3988800	Weak transcription	Fetal Muscle Leg	muscle
5	chr11:3973000-3988600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:3973200-3982400	Weak transcription	Primary B cells from cord blood	blood
7	chr11:3973200-3984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:3973200-3993200	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:3973200-4008400	Weak transcription	Fetal Lung	lung
10	chr11:3973600-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:3974400-3983400	Weak transcription	Small Intestine	intestine
12	chr11:3974800-3988200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:3974800-3988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:3975000-4006000	Weak transcription	Right Ventricle	heart
15	chr11:3975600-3988600	Weak transcription	Dnd41	blood
16	chr11:3975600-3988800	Weak transcription	Aorta	Aorta
17	chr11:3975800-3984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:3975800-3988800	Weak transcription	Esophagus	oesophagus
19	chr11:3977400-3983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:3977400-3985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:3977400-3988600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:3979400-3982600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:3979400-3982600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:3979400-3983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:3979600-3982400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:3979600-3982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:3979600-3982600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:3979600-3982600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:3979600-3982600	Enhancers	HMEC	breast
30	chr11:3979600-3982800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:3979600-3982800	Enhancers	NHDF-Ad	bronchial
32	chr11:3979800-3982600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:3979800-3982600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:3980200-3982600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:3980200-3982600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:3980400-3983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:3980400-3984000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:3980600-3982800	Enhancers	Primary T cells from cord blood	blood
39	chr11:3980600-3984000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr11:3980600-3988800	Weak transcription	GM12878-XiMat	blood
41	chr11:3980600-3994200	Weak transcription	Fetal Stomach	stomach
42	chr11:3981000-3982600	Enhancers	HepG2	liver
43	chr11:3981000-3988800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:3981200-3983400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:3981200-3983400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:3981200-3983400	Weak transcription	Thymus	Thymus
47	chr11:3981200-3983400	Weak transcription	NHLF	lung
48	chr11:3981200-3984800	Weak transcription	K562	blood
49	chr11:3981200-3990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:3981400-3982600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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