Variant report

Variant	esv19587
Chromosome Location	chr11:10433896-10434590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10433682..10435838-chr11:10460593..10462614,2	K562	blood:
2	chr11:10433858..10436750-chr11:10437236..10438791,2	MCF-7	breast:
3	chr11:10432214..10434068-chr11:10476059..10477967,2	K562	blood:

Variant related genes	Relation type
ENSG00000133805	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10840408	chr11:10433907-10433908	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559804868	chr11:10433934-10433935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72856136	chr11:10433953-10433954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72856138	chr11:10433966-10433967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561976657	chr11:10433969-10433970	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531211862	chr11:10433976-10433977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10840409	chr11:10433992-10433993	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72856140	chr11:10433993-10433994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533576736	chr11:10433994-10433995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559337692	chr11:10434011-10434012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7103886	chr11:10434078-10434079	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11042788	chr11:10434085-10434086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566560504	chr11:10434097-10434098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535236570	chr11:10434134-10434135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117127843	chr11:10434152-10434153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138839630	chr11:10434153-10434154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530197237	chr11:10434181-10434182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549982631	chr11:10434190-10434191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148675829	chr11:10434236-10434237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537719934	chr11:10434254-10434255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72856142	chr11:10434280-10434281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577374309	chr11:10434288-10434289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72856143	chr11:10434336-10434337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72856146	chr11:10434360-10434361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs573273206	chr11:10434367-10434368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541989319	chr11:10434377-10434378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562088652	chr11:10434402-10434403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11042789	chr11:10434409-10434410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs369487745	chr11:10434426-10434427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375093262	chr11:10434432-10434433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368427915	chr11:10434433-10434434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370999938	chr11:10434434-10434435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374631792	chr11:10434435-10434436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367550473	chr11:10434436-10434437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143359177	chr11:10434437-10434438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200581503	chr11:10434442-10434443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3074281	chr11:10434443-10434444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375479569	chr11:10434444-10434445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377028380	chr11:10434445-10434446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116223629	chr11:10434446-10434447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57873475	chr11:10434453-10434454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191434846	chr11:10434471-10434472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533718191	chr11:10434479-10434480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547164387	chr11:10434484-10434485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374057553	chr11:10434496-10434497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78677224	chr11:10434552-10434553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536695765	chr11:10434554-10434555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76464803	chr11:10434556-10434557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76775653	chr11:10434557-10434558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76908322	chr11:10434567-10434568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10415600-10436000	Weak transcription	Right Ventricle	heart
2	chr11:10427800-10435000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:10427800-10435200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:10427800-10436000	Weak transcription	HSMMtube	muscle
5	chr11:10428200-10435200	Weak transcription	Dnd41	blood
6	chr11:10429000-10434000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:10429000-10436000	Enhancers	Placenta	Placenta
8	chr11:10429800-10435400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:10429800-10435400	Weak transcription	Left Ventricle	heart
10	chr11:10429800-10436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:10430000-10435200	Weak transcription	NHDF-Ad	bronchial
12	chr11:10430000-10441000	Weak transcription	Right Atrium	heart
13	chr11:10431200-10434800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:10431200-10435400	Weak transcription	HUVEC	blood vessel
15	chr11:10431200-10435600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:10431200-10435600	Weak transcription	Spleen	Spleen
17	chr11:10431200-10436000	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:10431200-10436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:10431400-10435000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:10431400-10435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:10431400-10435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:10431400-10435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:10431400-10435400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:10431400-10435800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:10431600-10434600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:10431600-10434600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:10431600-10434800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:10431600-10435000	Weak transcription	Primary B cells from cord blood	blood
29	chr11:10431600-10435000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:10431600-10435000	Weak transcription	Fetal Thymus	thymus
31	chr11:10431600-10435400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:10431800-10434600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:10431800-10435000	Weak transcription	Primary T cells from cord blood	blood
34	chr11:10431800-10435000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:10431800-10435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:10431800-10435200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:10432000-10435400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:10432200-10434200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:10432400-10434400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:10432400-10434600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:10432600-10434800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:10432800-10434600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:10432800-10434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:10432800-10435000	Weak transcription	K562	blood
45	chr11:10432800-10435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:10432800-10435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:10432800-10438000	Weak transcription	Psoas Muscle	Psoas
48	chr11:10433200-10434000	Weak transcription	Esophagus	oesophagus
49	chr11:10433200-10434200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:10433600-10435400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links