Variant report

Variant	esv3433331
Chromosome Location	chr11:86556944-86561876
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	chr11:45825151..45827772-chr11:86555023..86556988,2	MCF-7	breast:
2	chr11:45834121..45836057-chr11:86557462..86559021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255447	chromatin interactions
ENSG00000181830	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs532896885	chr11:86557008-86557009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189899060	chr11:86557057-86557058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560161975	chr11:86557059-86557060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529092102	chr11:86557181-86557182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73526354	chr11:86557196-86557197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549508162	chr11:86557197-86557198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571361775	chr11:86557245-86557246	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201501988	chr11:86557256-86557257	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538332737	chr11:86557267-86557268	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557958201	chr11:86557334-86557335	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568840071	chr11:86557352-86557353	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79136813	chr11:86557462-86557463	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551403491	chr11:86557473-86557474	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367645721	chr11:86557488-86557489	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534151716	chr11:86557522-86557523	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371752564	chr11:86557564-86557565	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527536609	chr11:86557633-86557634	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553997117	chr11:86557757-86557758	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574047943	chr11:86557760-86557761	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186422413	chr11:86557782-86557783	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11234827	chr11:86557798-86557799	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141516096	chr11:86557815-86557816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77287924	chr11:86557830-86557831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565524450	chr11:86557838-86557839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189982127	chr11:86557855-86557856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540189377	chr11:86557873-86557874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182286939	chr11:86557887-86557888	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555988815	chr11:86557915-86557916	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573956572	chr11:86557967-86557968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150890344	chr11:86557996-86557997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548812746	chr11:86558009-86558010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562333083	chr11:86558023-86558024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544643964	chr11:86558035-86558036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs186451024	chr11:86558037-86558038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190875633	chr11:86558111-86558112	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533956600	chr11:86558112-86558113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547755392	chr11:86558119-86558120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567685033	chr11:86558143-86558144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536743192	chr11:86558150-86558151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566142354	chr11:86558153-86558154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113851017	chr11:86558165-86558166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140903069	chr11:86558187-86558188	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183093256	chr11:86558196-86558197	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188271766	chr11:86558214-86558215	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs193070232	chr11:86558215-86558216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572682290	chr11:86558222-86558223	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183149942	chr11:86558223-86558224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560402741	chr11:86558226-86558227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573441840	chr11:86558241-86558242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542324200	chr11:86558244-86558245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86537200-86580600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:86543200-86582600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:86547800-86562400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86549600-86581400	Weak transcription	Ovary	ovary
5	chr11:86549800-86557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:86549800-86562400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:86549800-86576400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:86550000-86557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:86550000-86575200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:86550600-86559000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:86551200-86557200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:86554200-86557200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:86555400-86557200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:86555400-86557400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:86557200-86557400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:86557200-86557600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:86557200-86557800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:86557200-86557800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:86557400-86559400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:86557400-86559600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:86557400-86560000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:86557600-86560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:86557800-86558800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:86557800-86559800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:86558800-86560200	Enhancers	Pancreas	Pancrea
26	chr11:86558800-86562600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:86559000-86559400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr11:86559000-86559400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:86559000-86559400	Enhancers	HepG2	liver
30	chr11:86559000-86559600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:86559000-86560200	Enhancers	Left Ventricle	heart
32	chr11:86559000-86560400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:86559200-86559600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:86559200-86559600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:86559200-86559800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:86559200-86559800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr11:86559400-86559800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:86559400-86560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:86559600-86560400	Enhancers	Fetal Heart	heart
40	chr11:86559600-86563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:86559800-86560200	Enhancers	Fetal Intestine Small	intestine
42	chr11:86559800-86560400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:86559800-86563600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:86560000-86560200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:86560200-86560800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:86560200-86562400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:86560400-86561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:86560400-86562800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:86560800-86562600	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:86561400-86562200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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