Variant report

Variant	esv10960
Chromosome Location	chr11:17510136-17510847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17509940..17512349-chr11:17516541..17518865,2	K562	blood:

Variant related genes	Relation type
ENSG00000006611	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558081208	chr11:17510211-17510212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565892596	chr11:17510213-17510214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11606229	chr11:17510231-17510232	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181639118	chr11:17510237-17510238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558197874	chr11:17510240-17510241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368370788	chr11:17510251-17510252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs72329133	chr11:17510282-17510283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548168982	chr11:17510285-17510286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35606768	chr11:17510287-17510288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148203169	chr11:17510322-17510323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531329898	chr11:17510323-17510324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185921822	chr11:17510326-17510327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10832794	chr11:17510328-17510329	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373977185	chr11:17510332-17510333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375888475	chr11:17510334-17510335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545238229	chr11:17510346-17510347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35107083	chr11:17510347-17510348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs397830272	chr11:17510349-17510350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs68040924	chr11:17510354-17510355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs4757526	chr11:17510404-17510405	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572315042	chr11:17510416-17510417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11603988	chr11:17510419-17510420	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs374246356	chr11:17510439-17510440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564257489	chr11:17510484-17510485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562237036	chr11:17510487-17510488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4757527	chr11:17510565-17510566	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs188700552	chr11:17510578-17510579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75943379	chr11:17510600-17510601	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539747005	chr11:17510603-17510604	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6486373	chr11:17510635-17510636	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4757528	chr11:17510669-17510670	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537687993	chr11:17510673-17510674	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2355019	chr11:17510675-17510676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs4757529	chr11:17510707-17510708	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573794191	chr11:17510719-17510720	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534663110	chr11:17510721-17510722	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553005495	chr11:17510743-17510744	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4757530	chr11:17510756-17510757	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs544668381	chr11:17510766-17510767	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563633146	chr11:17510788-17510789	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575425891	chr11:17510798-17510799	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78478904	chr11:17510804-17510805	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4757531	chr11:17510832-17510833	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Usher syndrome	20538994	CNVD
Usher type I cohort	21436283	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17507800-17515800	Weak transcription	Gastric	stomach
2	chr11:17508000-17510600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:17508200-17510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:17508800-17515600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:17510600-17510800	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:17510600-17511200	Enhancers	Psoas Muscle	Psoas
7	chr11:17510600-17513200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr11:17510800-17511200	Weak transcription	Fetal Muscle Trunk	muscle

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