Variant report

Variant	esv3342325
Chromosome Location	chr11:86732254-86734352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:86733315-86733613	GM12878	blood:	n/a	n/a
2	BATF	chr11:86733352-86733587	GM12878	blood:	n/a	n/a
3	EP300	chr11:86733749-86734144	T-47D	breast:	n/a	n/a
4	FOXA1	chr11:86733837-86734104	T-47D	breast:	n/a	n/a
5	FOXA1	chr11:86733314-86733593	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:86733324-86733588	HepG2	liver:	n/a	n/a
7	GATA3	chr11:86731721-86732339	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:86733818-86734268	MCF-7	breast:	n/a	n/a
9	GATA3	chr11:86733824-86734191	T-47D	breast:	n/a	n/a
10	GATA3	chr11:86733781-86734171	T-47D	breast:	n/a	n/a
11	NFIC	chr11:86731780-86732350	SK-N-SH	brain:	n/a	chr11:86732033-86732050 chr11:86732060-86732076 chr11:86732033-86732049
12	PBX3	chr11:86731765-86732332	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:86732784-86732869	GM12878	blood:	n/a	n/a
14	RUNX3	chr11:86733324-86733658	GM12878	blood:	n/a	n/a
15	RUNX3	chr11:86733303-86733599	GM12878	blood:	n/a	n/a
16	TCF12	chr11:86731717-86732413	SK-N-SH	brain:	n/a	chr11:86731998-86732005
17	TCF12	chr11:86731653-86732384	SK-N-SH	brain:	n/a	chr11:86731998-86732005
18	ZNF384	chr11:86733363-86733439	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86664752..86667131-chr11:86731834..86733596,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPCP8	TF binding region
ENSG00000174804	chromatin interactions
ENSG00000246523	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576214453	chr11:86732306-86732307	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs545290932	chr11:86732369-86732370	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564902097	chr11:86732415-86732416	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527498630	chr11:86732416-86732417	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540860865	chr11:86732417-86732418	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184554662	chr11:86732461-86732462	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs61906162	chr11:86732470-86732471	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138752095	chr11:86732488-86732489	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530175231	chr11:86732539-86732540	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549868448	chr11:86732540-86732541	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570037836	chr11:86732568-86732569	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10792898	chr11:86732667-86732668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562650121	chr11:86732690-86732691	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10751146	chr11:86732723-86732724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535206857	chr11:86732730-86732731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555245140	chr11:86732733-86732734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11234908	chr11:86732734-86732735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536353653	chr11:86732801-86732802	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555838970	chr11:86732825-86732826	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs566159497	chr11:86732875-86732876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372407693	chr11:86732892-86732893	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189634892	chr11:86732907-86732908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs201908018	chr11:86732923-86732924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544940169	chr11:86732949-86732950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558799716	chr11:86732952-86732953	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs180816398	chr11:86732953-86732954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540817871	chr11:86732959-86732960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139275555	chr11:86732973-86732974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558147473	chr11:86732985-86732986	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs386755839	chr11:86732995-86732996	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74527363	chr11:86732996-86732997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543921021	chr11:86733000-86733001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563501778	chr11:86733002-86733003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532525725	chr11:86733014-86733015	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs57177201	chr11:86733040-86733041	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181825329	chr11:86733067-86733068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528832713	chr11:86733076-86733077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1251656	chr11:86733081-86733082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs1262081	chr11:86733088-86733089	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113778791	chr11:86733093-86733094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1262082	chr11:86733130-86733131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548757785	chr11:86733177-86733178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1269908	chr11:86733229-86733230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568671076	chr11:86733230-86733231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs60263007	chr11:86733252-86733253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs202229590	chr11:86733289-86733290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56918119	chr11:86733290-86733291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs202157999	chr11:86733291-86733292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111715754	chr11:86733292-86733293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs572663198	chr11:86733309-86733310	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86728000-86732800	Enhancers	HepG2	liver
2	chr11:86730200-86732600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:86730600-86732600	Enhancers	HMEC	breast
4	chr11:86730800-86732400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:86730800-86732400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:86730800-86734000	Weak transcription	Right Atrium	heart
7	chr11:86731000-86733400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:86731000-86733800	Weak transcription	Left Ventricle	heart
9	chr11:86731000-86733800	Weak transcription	Right Ventricle	heart
10	chr11:86731400-86732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:86731400-86732400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:86731400-86732400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:86731400-86737800	Weak transcription	Fetal Heart	heart
14	chr11:86731800-86733400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:86731800-86733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:86731800-86748200	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:86732000-86732400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86732400-86732600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:86732400-86732600	Enhancers	Fetal Lung	lung
20	chr11:86732400-86733400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:86732400-86739400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:86732600-86733400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:86732600-86738800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:86732800-86733200	Weak transcription	HepG2	liver
25	chr11:86733200-86734200	Enhancers	HepG2	liver
26	chr11:86733400-86733600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:86733400-86733600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:86733400-86734000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr11:86733400-86734000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:86733400-86734200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:86733400-86734200	Enhancers	Colon Smooth Muscle	Colon
32	chr11:86733400-86734400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:86733800-86734200	Enhancers	Left Ventricle	heart
34	chr11:86733800-86734200	Enhancers	Right Ventricle	heart
35	chr11:86734000-86734200	Enhancers	Right Atrium	heart
36	chr11:86734200-86735600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:86734200-86737400	Weak transcription	Left Ventricle	heart

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