Variant report

Variant	esv3345421
Chromosome Location	chr11:17730076-17734574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17733888..17735691-chr11:17739053..17741610,3	K562	blood:
2	chr11:17722486..17724717-chr11:17727954..17730842,2	K562	blood:
3	chr11:17726249..17728928-chr11:17732573..17735083,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129152	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547004108	chr11:17730147-17730148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184243239	chr11:17730163-17730164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569953830	chr11:17730188-17730189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7951471	chr11:17730204-17730205	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376991980	chr11:17730209-17730210	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370422144	chr11:17730210-17730211	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7131311	chr11:17730258-17730259	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111630543	chr11:17730279-17730280	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576910139	chr11:17730297-17730298	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552729455	chr11:17730303-17730304	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142762739	chr11:17730306-17730307	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554247477	chr11:17730330-17730331	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572563987	chr11:17730357-17730358	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372477183	chr11:17730366-17730367	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190784058	chr11:17730367-17730368	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182184436	chr11:17730370-17730371	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377500151	chr11:17730446-17730447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184599702	chr11:17730472-17730473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544509275	chr11:17730487-17730488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562611272	chr11:17730498-17730499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574117136	chr11:17730538-17730539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144249309	chr11:17730590-17730591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188953657	chr11:17730624-17730625	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543858599	chr11:17730631-17730632	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561405024	chr11:17730676-17730677	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181400841	chr11:17730679-17730680	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185625574	chr11:17730684-17730685	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571601705	chr11:17730713-17730714	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538623520	chr11:17730754-17730755	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148793247	chr11:17730767-17730768	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76136027	chr11:17730796-17730797	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547870720	chr11:17730797-17730798	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536458862	chr11:17730821-17730822	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371005400	chr11:17730837-17730838	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572632113	chr11:17730878-17730879	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6486393	chr11:17730880-17730881	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150911499	chr11:17730896-17730897	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12797644	chr11:17730977-17730978	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12797118	chr11:17730997-17730998	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12798765	chr11:17730998-17730999	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3890009	chr11:17731005-17731006	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543812423	chr11:17731016-17731017	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4403789	chr11:17731063-17731064	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs574772370	chr11:17731117-17731118	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191164397	chr11:17731121-17731122	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560020077	chr11:17731127-17731128	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368778304	chr11:17731162-17731163	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140038528	chr11:17731190-17731191	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560370267	chr11:17731210-17731211	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4756915	chr11:17731242-17731243	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17728800-17735600	Enhancers	Fetal Muscle Leg	muscle
2	chr11:17729000-17730200	Enhancers	Fetal Lung	lung
3	chr11:17729000-17730600	Enhancers	Fetal Muscle Trunk	muscle
4	chr11:17729000-17730800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:17729200-17730200	Enhancers	HSMMtube	muscle
6	chr11:17729200-17730800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:17729400-17730200	Enhancers	Psoas Muscle	Psoas
8	chr11:17729800-17736000	Weak transcription	Right Atrium	heart
9	chr11:17730200-17730400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:17730200-17730400	Bivalent Enhancer	Placenta	Placenta
11	chr11:17730200-17735600	Weak transcription	Psoas Muscle	Psoas
12	chr11:17730200-17735600	Weak transcription	HSMMtube	muscle
13	chr11:17730600-17731800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:17732000-17735800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17732000-17736200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:17732000-17736200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:17732600-17733000	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:17733000-17734000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:17733600-17733800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:17733600-17734000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr11:17733800-17734000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr11:17734000-17734200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:17734000-17734200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr11:17734000-17734200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr11:17734000-17734200	Enhancers	Fetal Muscle Trunk	muscle
26	chr11:17734200-17734800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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