Variant report

Variant	esv3407702
Chromosome Location	chr11:73827254-73829452
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	chr11:73820071..73826543-chr11:73829167..73833958,6	K562	blood:

Variant related genes	Relation type
ENSG00000168014	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374321783	chr11:73827275-73827276	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551918060	chr11:73827282-73827283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562054205	chr11:73827317-73827318	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111991486	chr11:73827342-73827343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571822470	chr11:73827404-73827405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150012065	chr11:73827411-73827412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556647148	chr11:73827469-73827470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189633456	chr11:73827511-73827512	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535046137	chr11:73827569-73827570	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180702428	chr11:73827658-73827659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565608843	chr11:73827677-73827678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574386194	chr11:73827817-73827818	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185960388	chr11:73827821-73827822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191203285	chr11:73827823-73827824	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376507210	chr11:73827833-73827834	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530983615	chr11:73827835-73827836	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28800925	chr11:73827836-73827837	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201764609	chr11:73827840-73827841	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183333353	chr11:73827846-73827847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543648569	chr11:73827856-73827857	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150737547	chr11:73827865-73827866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557479672	chr11:73827872-73827873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574191119	chr11:73827873-73827874	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140034054	chr11:73827891-73827892	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201835060	chr11:73827894-73827895	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111564995	chr11:73827908-73827909	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143548577	chr11:73827921-73827922	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533964894	chr11:73827927-73827928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528520840	chr11:73827937-73827938	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113846971	chr11:73827946-73827947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199902430	chr11:73827953-73827954	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539901406	chr11:73827954-73827955	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536033611	chr11:73827955-73827956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200111251	chr11:73827957-73827958	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58882073	chr11:73827962-73827963	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200629478	chr11:73827964-73827965	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539889000	chr11:73827989-73827990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565618842	chr11:73827993-73827994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552969393	chr11:73827995-73827996	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550773529	chr11:73827996-73827997	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569367882	chr11:73827998-73827999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528978714	chr11:73828000-73828001	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143154367	chr11:73828003-73828004	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375992047	chr11:73828013-73828014	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371667086	chr11:73828018-73828019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370211496	chr11:73828020-73828021	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548533772	chr11:73828021-73828022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12794753	chr11:73828023-73828024	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12794754	chr11:73828025-73828026	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56318855	chr11:73828028-73828029	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
2	chr11:73802000-73831800	Weak transcription	Pancreas	Pancrea
3	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
4	chr11:73802400-73832000	Weak transcription	Fetal Heart	heart
5	chr11:73804000-73832400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
7	chr11:73809800-73844400	Weak transcription	HMEC	breast
8	chr11:73809800-73847200	Weak transcription	HepG2	liver
9	chr11:73812000-73849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:73814600-73845400	Weak transcription	Psoas Muscle	Psoas
11	chr11:73815400-73834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:73816800-73840000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:73816800-73845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:73817200-73846800	Weak transcription	Spleen	Spleen
15	chr11:73817400-73828600	Weak transcription	Right Ventricle	heart
16	chr11:73817400-73845400	Weak transcription	NHDF-Ad	bronchial
17	chr11:73817400-73846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:73817600-73828600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:73817600-73828600	Weak transcription	Lung	lung
20	chr11:73817600-73832600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:73817600-73842000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:73817600-73842000	Weak transcription	Gastric	stomach
23	chr11:73817600-73845800	Weak transcription	NHEK	skin
24	chr11:73817600-73849200	Weak transcription	NHLF	lung
25	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:73819000-73829800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:73820400-73846400	Weak transcription	Osteobl	bone
28	chr11:73820600-73831600	Weak transcription	Brain Angular Gyrus	brain
29	chr11:73823000-73828000	Strong transcription	A549	lung
30	chr11:73823600-73829400	Strong transcription	Fetal Thymus	thymus
31	chr11:73823600-73829600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:73823600-73829600	Strong transcription	Fetal Brain Female	brain
33	chr11:73823600-73832200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:73824000-73827800	Strong transcription	Fetal Kidney	kidney
35	chr11:73824000-73829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:73824200-73827800	Strong transcription	Primary B cells from cord blood	blood
37	chr11:73824200-73830000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:73824200-73833600	Strong transcription	Primary T cells from cord blood	blood
39	chr11:73824400-73828800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:73824400-73828800	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:73824400-73829000	Weak transcription	HUVEC	blood vessel
42	chr11:73824400-73833200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:73824400-73834600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:73824400-73841200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:73824400-73852400	Weak transcription	Colonic Mucosa	Colon
46	chr11:73824600-73827400	Weak transcription	Brain Anterior Caudate	brain
47	chr11:73824600-73828600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:73824600-73840000	Weak transcription	Fetal Intestine Large	intestine
49	chr11:73824600-73846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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