Variant report

Variant	esv3417743
Chromosome Location	chr11:107699670-107725103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:107711394..107713234-chr11:107715059..107718295,3	K562	blood:
2	chr11:107691036..107695039-chr11:107696173..107700652,4	K562	blood:
3	chr11:107716345..107719089-chr11:107728424..107730844,2	K562	blood:
4	chr11:107719290..107725550-chr11:107725808..107730435,7	MCF-7	breast:
5	chr11:107711394..107713234-chr11:107715059..107718295,3	K562	blood:
6	chr11:107705879..107708165-chr11:107709790..107712179,2	K562	blood:
7	chr11:107720451..107722516-chr11:107723737..107725547,2	K562	blood:
8	chr11:107693680..107695656-chr11:107699193..107701857,2	MCF-7	breast:
9	chr11:107693861..107695588-chr11:107701609..107703172,2	K562	blood:
10	chr11:107701670..107703248-chr11:107728191..107729812,2	MCF-7	breast:
11	chr11:107715556..107718513-chr11:107720703..107722662,2	K562	blood:
12	chr11:107722496..107727212-chr11:107727549..107730508,5	K562	blood:
13	chr11:107705879..107708165-chr11:107709790..107712179,2	K562	blood:
14	chr11:107715556..107718513-chr11:107720703..107722662,2	K562	blood:
15	chr11:107720451..107722516-chr11:107723737..107725547,2	K562	blood:
16	chr11:107724074..107726361-chr11:107732414..107734385,2	K562	blood:
17	chr11:107711008..107711755-chr20:47663245..47663778,2	Hela-S3	cervix:
18	chr11:107713214..107715442-chr11:107878460..107880889,2	K562	blood:
19	chr11:107723077..107725574-chr11:107732885..107735452,2	K562	blood:
20	chr11:107717688..107720633-chr11:107727875..107730541,3	MCF-7	breast:
21	chr11:107724102..107726025-chr11:107793740..107795283,2	K562	blood:
22	chr11:107716345..107718524-chr11:107728424..107730206,2	K562	blood:
23	chr11:107709816..107713345-chr11:107727610..107729677,4	MCF-7	breast:
24	chr11:107719420..107722219-chr11:107728105..107729908,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110660	chromatin interactions
ENSG00000166266	chromatin interactions

Extended variants
information (count: 1095 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1095 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542217578	chr11:107699680-107699681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557118652	chr11:107699706-107699707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544682804	chr11:107699729-107699730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576283714	chr11:107699803-107699804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183898495	chr11:107699807-107699808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113102644	chr11:107699825-107699826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188430609	chr11:107699826-107699827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12271120	chr11:107699845-107699846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76735513	chr11:107699851-107699852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548753373	chr11:107699863-107699864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181326664	chr11:107699864-107699865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112762700	chr11:107699907-107699908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559499445	chr11:107699953-107699954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11212395	chr11:107699974-107699975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548163469	chr11:107699989-107699990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9804577	chr11:107700100-107700101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186795397	chr11:107700106-107700107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559832279	chr11:107700108-107700109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570687110	chr11:107700126-107700127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112550403	chr11:107700136-107700137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553010945	chr11:107700137-107700138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568533766	chr11:107700155-107700156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71471731	chr11:107700158-107700159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9804652	chr11:107700160-107700161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61906447	chr11:107700161-107700162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11212396	chr11:107700186-107700187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11212397	chr11:107700203-107700204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543673304	chr11:107700218-107700219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370325777	chr11:107700221-107700222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531168905	chr11:107700228-107700229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558893966	chr11:107700279-107700280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11212398	chr11:107700286-107700287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115070722	chr11:107700292-107700293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377040872	chr11:107700326-107700327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550816677	chr11:107700377-107700378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536987952	chr11:107700390-107700391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199635404	chr11:107700403-107700404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199878464	chr11:107700404-107700405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575166570	chr11:107700419-107700420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57157970	chr11:107700502-107700503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541591571	chr11:107700579-107700580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147744514	chr11:107700613-107700614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12099368	chr11:107700647-107700648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530448583	chr11:107700670-107700671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552408793	chr11:107700684-107700685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538463741	chr11:107700741-107700742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564451943	chr11:107700759-107700760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144720249	chr11:107700811-107700812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546788405	chr11:107700849-107700850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568589109	chr11:107700851-107700852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:556 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107673400-107727800	Weak transcription	Primary B cells from cord blood	blood
2	chr11:107683400-107701600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:107690600-107701400	Weak transcription	A549	lung
4	chr11:107691200-107709600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:107692600-107701800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:107696600-107711000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:107697200-107702200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:107697200-107709800	Weak transcription	GM12878-XiMat	blood
9	chr11:107697400-107701400	Weak transcription	HUVEC	blood vessel
10	chr11:107698200-107701400	Weak transcription	NHEK	skin
11	chr11:107698400-107701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:107698600-107701600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:107699400-107701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:107700200-107701400	Weak transcription	HMEC	breast
15	chr11:107701400-107702200	Enhancers	Liver	Liver
16	chr11:107701400-107702200	Enhancers	Stomach Mucosa	stomach
17	chr11:107701400-107702200	Enhancers	A549	lung
18	chr11:107701400-107702600	Enhancers	Hela-S3	cervix
19	chr11:107701400-107703000	Enhancers	HUVEC	blood vessel
20	chr11:107701400-107703800	Enhancers	HMEC	breast
21	chr11:107701400-107704000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:107701400-107704000	Enhancers	NHEK	skin
23	chr11:107701400-107704400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:107701600-107704400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:107701800-107702200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:107701800-107703600	Enhancers	K562	blood
27	chr11:107702000-107702400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:107702000-107702400	Enhancers	Gastric	stomach
29	chr11:107702000-107702400	Enhancers	Pancreas	Pancrea
30	chr11:107702000-107702600	Enhancers	Esophagus	oesophagus
31	chr11:107702200-107702400	Enhancers	Left Ventricle	heart
32	chr11:107702200-107702400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:107702200-107709800	Weak transcription	A549	lung
34	chr11:107702200-107710600	Weak transcription	Stomach Mucosa	stomach
35	chr11:107702400-107703400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:107702400-107710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:107702400-107710800	Weak transcription	Gastric	stomach
38	chr11:107702600-107702800	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:107702600-107702800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr11:107702600-107703000	Weak transcription	Esophagus	oesophagus
41	chr11:107702800-107707200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:107702800-107710600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:107703000-107703200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr11:107703000-107703600	Enhancers	Esophagus	oesophagus
45	chr11:107703000-107704600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr11:107703000-107708800	Weak transcription	HUVEC	blood vessel
47	chr11:107703200-107703400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:107703200-107703800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr11:107703200-107703800	Enhancers	HepG2	liver
50	chr11:107703200-107704200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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