Variant report

Variant	esv3412512
Chromosome Location	chr11:75538854-75541002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75538391..75541222-chr11:75552775..75555078,2	MCF-7	breast:
2	chr11:75523241..75526471-chr11:75537814..75541903,3	MCF-7	breast:
3	chr11:75538908..75540787-chr11:75559807..75562347,2	MCF-7	breast:
4	chr11:75519519..75522045-chr11:75539300..75541431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	chromatin interactions
ENSG00000198382	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185463035	chr11:75538925-75538926	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536056863	chr11:75538954-75538955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552620550	chr11:75538996-75538997	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs572896252	chr11:75539118-75539119	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547522854	chr11:75539121-75539122	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368214519	chr11:75539122-75539123	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544635616	chr11:75539130-75539131	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs73489931	chr11:75539135-75539136	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575175019	chr11:75539145-75539146	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376893797	chr11:75539153-75539154	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544870672	chr11:75539166-75539167	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201638721	chr11:75539294-75539295	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561605651	chr11:75539352-75539353	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370330231	chr11:75539362-75539363	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs144249524	chr11:75539374-75539375	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547238702	chr11:75539380-75539381	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529718850	chr11:75539382-75539383	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560526418	chr11:75539434-75539435	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs547859185	chr11:75539470-75539471	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113028682	chr11:75539479-75539480	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs569231640	chr11:75539480-75539481	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113226743	chr11:75539490-75539491	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537887581	chr11:75539498-75539499	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76960886	chr11:75539528-75539529	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs80301044	chr11:75539534-75539535	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112699246	chr11:75539538-75539539	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372178433	chr11:75539548-75539549	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112112068	chr11:75539663-75539664	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs552756880	chr11:75539667-75539668	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561718115	chr11:75539684-75539685	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142353080	chr11:75539713-75539714	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200861733	chr11:75539734-75539735	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs139603894	chr11:75539743-75539744	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12223696	chr11:75539749-75539750	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11236547	chr11:75539754-75539755	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11236548	chr11:75539758-75539759	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200068368	chr11:75539759-75539760	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs201452485	chr11:75539766-75539767	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs199596890	chr11:75539776-75539777	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182178864	chr11:75539778-75539779	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs202199930	chr11:75539780-75539781	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185167725	chr11:75539793-75539794	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376025190	chr11:75539800-75539801	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558399874	chr11:75539827-75539828	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71036067	chr11:75539840-75539841	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs374916593	chr11:75539846-75539847	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs71466373	chr11:75539848-75539849	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7929527	chr11:75539850-75539851	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115213366	chr11:75539873-75539874	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs544243993	chr11:75539883-75539884	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528200-75541000	Weak transcription	Esophagus	oesophagus
2	chr11:75528200-75549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:75528200-75553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:75528400-75541600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:75528400-75543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:75528400-75550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:75528400-75561600	Weak transcription	HSMM	muscle
8	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:75528600-75540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:75528600-75543800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
12	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
13	chr11:75528600-75563600	Weak transcription	Dnd41	blood
14	chr11:75528800-75547200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:75529200-75544400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:75529200-75544400	Weak transcription	Fetal Brain Male	brain
17	chr11:75531800-75539400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:75532200-75551000	Weak transcription	NHEK	skin
19	chr11:75532400-75551000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:75533200-75539400	Enhancers	Rectal Smooth Muscle	rectum
21	chr11:75533600-75540600	Weak transcription	Ovary	ovary
22	chr11:75533600-75549000	Weak transcription	K562	blood
23	chr11:75534200-75539200	Enhancers	Colon Smooth Muscle	Colon
24	chr11:75534800-75542600	Weak transcription	Fetal Thymus	thymus
25	chr11:75534800-75544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:75534800-75549800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:75535000-75547200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:75535200-75543600	Weak transcription	Small Intestine	intestine
29	chr11:75535400-75539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:75535400-75540400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:75535400-75545400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:75535400-75550000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
35	chr11:75535600-75550800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:75535600-75556200	Weak transcription	A549	lung
37	chr11:75535800-75541600	Weak transcription	Primary T cells from cord blood	blood
38	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:75536600-75543200	Weak transcription	Right Ventricle	heart
40	chr11:75536800-75540400	Enhancers	Primary B cells from cord blood	blood
41	chr11:75536800-75542600	Weak transcription	Hela-S3	cervix
42	chr11:75536800-75543200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:75536800-75543200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:75537000-75539800	Weak transcription	Lung	lung
45	chr11:75537000-75543200	Weak transcription	Spleen	Spleen
46	chr11:75537000-75547000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:75537000-75548800	Weak transcription	Fetal Stomach	stomach
48	chr11:75537200-75540600	Enhancers	Primary B cells from peripheral blood	blood
49	chr11:75537400-75539000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:75537400-75539200	Enhancers	Duodenum Mucosa	Duodenum

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