Variant report

Variant	esv3343623
Chromosome Location	chr11:67755476-67759274
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	chr11:67755639..67758196-chr11:67777714..67779604,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006534	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs540851102	chr11:67755477-67755478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34552589	chr11:67755479-67755480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559444142	chr11:67755550-67755551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75314885	chr11:67755553-67755554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1636211	chr11:67755615-67755616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184760984	chr11:67755626-67755627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189091335	chr11:67755631-67755632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11827178	chr11:67755635-67755636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11827179	chr11:67755637-67755638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112751225	chr11:67755644-67755645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528239798	chr11:67755665-67755666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546402330	chr11:67755674-67755675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192147505	chr11:67755747-67755748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538797136	chr11:67755845-67755846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113392537	chr11:67755872-67755873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550679645	chr11:67755873-67755874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112146388	chr11:67755882-67755883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184942939	chr11:67755885-67755886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555215953	chr11:67755903-67755904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542212775	chr11:67755939-67755940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs377610059	chr11:67755947-67755948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573581045	chr11:67755949-67755950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534349375	chr11:67755996-67755997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369611670	chr11:67755997-67755998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540547101	chr11:67756019-67756020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559235073	chr11:67756021-67756022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11228118	chr11:67756031-67756032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577808539	chr11:67756057-67756058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12279292	chr11:67756058-67756059	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374351132	chr11:67756069-67756070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563120679	chr11:67756070-67756071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575140561	chr11:67756073-67756074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542276413	chr11:67756076-67756077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560811373	chr11:67756146-67756147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374689070	chr11:67756155-67756156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368994759	chr11:67756185-67756186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11228119	chr11:67756237-67756238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528412401	chr11:67756240-67756241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546388319	chr11:67756242-67756243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564767893	chr11:67756243-67756244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563272088	chr11:67756255-67756256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377017714	chr11:67756323-67756324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532485079	chr11:67756332-67756333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189783696	chr11:67756346-67756347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180984853	chr11:67756358-67756359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs202121839	chr11:67756362-67756363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs536602555	chr11:67756393-67756394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186145461	chr11:67756394-67756395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567161403	chr11:67756439-67756440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534544349	chr11:67756452-67756453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67751800-67762400	Weak transcription	A549	lung
2	chr11:67754000-67758000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:67757200-67758800	Enhancers	Stomach Mucosa	stomach
4	chr11:67757200-67760200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:67757600-67757800	Enhancers	Esophagus	oesophagus
6	chr11:67757600-67758400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:67757600-67758400	Enhancers	Placenta	Placenta
8	chr11:67757800-67758400	Weak transcription	Esophagus	oesophagus
9	chr11:67758000-67758400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:67758000-67764000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:67758200-67758600	Weak transcription	Right Atrium	heart
12	chr11:67758200-67758800	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:67758200-67758800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr11:67758200-67759000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:67758400-67758600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:67758400-67758600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:67758400-67758600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:67758400-67758600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:67758400-67758600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:67758400-67758600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:67758400-67758600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:67758400-67758600	Enhancers	Esophagus	oesophagus
23	chr11:67758400-67758600	Bivalent Enhancer	Fetal Brain Female	brain
24	chr11:67758400-67758600	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr11:67758400-67758600	Flanking Active TSS	Placenta	Placenta
26	chr11:67758400-67758600	Enhancers	Gastric	stomach
27	chr11:67758400-67758600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:67758400-67758600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr11:67758400-67758600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr11:67758400-67758600	Active TSS	HUVEC	blood vessel
31	chr11:67758400-67758600	Enhancers	NHEK	skin
32	chr11:67758400-67758800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:67758400-67758800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:67758400-67758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:67758400-67758800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
36	chr11:67758400-67758800	Enhancers	Lung	lung
37	chr11:67758400-67758800	Enhancers	Ovary	ovary
38	chr11:67758400-67758800	Enhancers	Spleen	Spleen
39	chr11:67758400-67758800	Enhancers	HMEC	breast
40	chr11:67758400-67759000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:67758400-67759000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:67758400-67759000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:67758400-67759000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:67758400-67759000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr11:67758400-67759000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:67758400-67759000	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr11:67758400-67759200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr11:67758400-67759200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:67758400-67759200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:67758400-67759200	Active TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links