Variant report

Variant	esv3435882
Chromosome Location	chr11:48171615-48172046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187834272	chr11:48171615-48171616	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370527432	chr11:48171620-48171621	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371888310	chr11:48171650-48171651	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146462521	chr11:48171669-48171670	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376743886	chr11:48171692-48171693	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202021620	chr11:48171696-48171697	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368407462	chr11:48171732-48171733	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371827692	chr11:48171743-48171744	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140404426	chr11:48171778-48171779	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10734565	chr11:48171793-48171794	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76685610	chr11:48171808-48171809	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564801015	chr11:48171814-48171815	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35279602	chr11:48171829-48171830	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35228272	chr11:48171832-48171833	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374623377	chr11:48171883-48171884	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575316826	chr11:48171897-48171898	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369886870	chr11:48171935-48171936	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79004751	chr11:48171977-48171978	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570280924	chr11:48171992-48171993	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77597165	chr11:48171994-48171995	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192570264	chr11:48172020-48172021	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4752909	chr11:48172034-48172035	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48131600-48191600	Weak transcription	Small Intestine	intestine
2	chr11:48137000-48172000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:48137000-48175200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:48138200-48192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:48139600-48172200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:48144000-48175200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:48145600-48175600	Weak transcription	Fetal Brain Male	brain
8	chr11:48145800-48184200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:48146400-48175400	Weak transcription	Fetal Heart	heart
10	chr11:48149800-48174600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:48149800-48190600	Weak transcription	Right Ventricle	heart
12	chr11:48151400-48191600	Weak transcription	Stomach Mucosa	stomach
13	chr11:48151600-48174400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:48152000-48175400	Weak transcription	K562	blood
15	chr11:48156200-48173000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:48156400-48191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:48157400-48172800	Strong transcription	Primary T cells from cord blood	blood
18	chr11:48157400-48172800	Strong transcription	Fetal Intestine Small	intestine
19	chr11:48157400-48173200	Strong transcription	Liver	Liver
20	chr11:48157400-48173600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:48157600-48173400	Strong transcription	Primary B cells from cord blood	blood
22	chr11:48157600-48173800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:48159000-48171800	Weak transcription	Left Ventricle	heart
24	chr11:48161400-48172200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:48162000-48174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:48163400-48172000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:48163400-48172200	Weak transcription	Esophagus	oesophagus
28	chr11:48163400-48173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:48163400-48173000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:48163400-48174400	Weak transcription	HSMMtube	muscle
31	chr11:48163400-48175200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:48163400-48192400	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:48163800-48173000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:48163800-48174400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:48164000-48173000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:48164000-48173200	Strong transcription	Fetal Intestine Large	intestine
37	chr11:48164000-48173400	Strong transcription	A549	lung
38	chr11:48164200-48179400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr11:48164800-48174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:48166800-48171800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:48166800-48172000	Weak transcription	GM12878-XiMat	blood
42	chr11:48166800-48174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:48166800-48174400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:48166800-48174400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:48166800-48175400	Weak transcription	Fetal Kidney	kidney
46	chr11:48166800-48175400	Weak transcription	NHDF-Ad	bronchial
47	chr11:48166800-48176000	Weak transcription	Fetal Thymus	thymus
48	chr11:48167000-48171800	Weak transcription	Ovary	ovary
49	chr11:48167000-48172200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:48167000-48174200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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