Variant report

Variant	esv19121
Chromosome Location	chr11:18735744-18736576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18716297..18718426-chr11:18735611..18738399,2	MCF-7	breast:
2	chr11:18728261..18730822-chr11:18735824..18737369,2	K562	blood:
3	chr11:18720380..18722380-chr11:18736149..18738465,2	K562	blood:

Variant related genes	Relation type
ENSG00000151117	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7106673	chr11:18735753-18735754	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528669082	chr11:18735819-18735820	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200687011	chr11:18735827-18735828	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368557709	chr11:18735838-18735839	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs372827581	chr11:18735839-18735840	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374783169	chr11:18735852-18735853	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575569027	chr11:18735857-18735858	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs193141075	chr11:18735865-18735866	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368989908	chr11:18735866-18735867	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs373701224	chr11:18735884-18735885	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376923694	chr11:18735891-18735892	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs369498553	chr11:18735898-18735899	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs373063001	chr11:18735909-18735910	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557811288	chr11:18735915-18735916	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs377361038	chr11:18735932-18735933	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs116550307	chr11:18735934-18735935	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374096851	chr11:18735941-18735942	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs386751189	chr11:18735947-18735948	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116322277	chr11:18735948-18735949	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373950090	chr11:18735970-18735971	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367951342	chr11:18735979-18735980	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs536677900	chr11:18735987-18735988	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554415259	chr11:18735996-18735997	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200138126	chr11:18736020-18736021	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs572820011	chr11:18736021-18736022	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370808104	chr11:18736085-18736086	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374167343	chr11:18736086-18736087	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368494069	chr11:18736129-18736130	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556899533	chr11:18736131-18736132	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs372284868	chr11:18736136-18736137	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs576675359	chr11:18736137-18736138	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200364605	chr11:18736139-18736140	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs367640432	chr11:18736140-18736141	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556255881	chr11:18736148-18736149	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371743611	chr11:18736149-18736150	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376636436	chr11:18736152-18736153	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184394185	chr11:18736169-18736170	Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368326626	chr11:18736209-18736210	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541829053	chr11:18736218-18736219	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575035931	chr11:18736223-18736224	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4265581	chr11:18736247-18736248	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs528804227	chr11:18736276-18736277	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141405039	chr11:18736307-18736308	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369888405	chr11:18736316-18736317	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148015154	chr11:18736335-18736336	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572717662	chr11:18736348-18736349	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150911574	chr11:18736349-18736350	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565474711	chr11:18736444-18736445	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558751079	chr11:18736448-18736449	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12792392	chr11:18736476-18736477	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18728400-18742200	Weak transcription	Gastric	stomach
2	chr11:18728600-18742200	Weak transcription	Right Ventricle	heart
3	chr11:18728600-18742600	Weak transcription	Aorta	Aorta
4	chr11:18728800-18741200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:18728800-18742000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:18728800-18742000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:18728800-18742400	Weak transcription	Fetal Kidney	kidney
8	chr11:18729000-18742200	Weak transcription	Ovary	ovary
9	chr11:18729200-18742000	Weak transcription	Fetal Brain Female	brain
10	chr11:18735200-18735800	Strong transcription	Fetal Stomach	stomach
11	chr11:18735200-18736600	ZNF genes & repeats	Spleen	Spleen
12	chr11:18735400-18736200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:18735400-18742200	Weak transcription	Brain Anterior Caudate	brain
14	chr11:18735600-18735800	Enhancers	Pancreas	Pancrea
15	chr11:18735600-18736200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:18735800-18741600	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:18735800-18741800	Weak transcription	Fetal Stomach	stomach
18	chr11:18735800-18742200	Weak transcription	Pancreas	Pancrea
19	chr11:18736200-18737000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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