Variant report

Variant	esv3329019
Chromosome Location	chr11:62294962-62295664
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	chr11:62294509..62298549-chr11:62300947..62305014,4	K562	blood:

Variant related genes	Relation type
ENSG00000250659	chromatin interactions
ENSG00000124942	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138300058	chr11:62294968-62294969	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs190050422	chr11:62294969-62294970	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534371116	chr11:62294974-62294975	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs138917652	chr11:62294991-62294992	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562582236	chr11:62294999-62295000	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183783741	chr11:62295075-62295076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs188468517	chr11:62295076-62295077	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs144211207	chr11:62295108-62295109	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369891981	chr11:62295110-62295111	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534740230	chr11:62295116-62295117	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554925458	chr11:62295118-62295119	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551206043	chr11:62295123-62295124	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200934114	chr11:62295132-62295133	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs61524789	chr11:62295149-62295150	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs143725813	chr11:62295150-62295151	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1298918	chr11:62295157-62295158	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556401870	chr11:62295163-62295164	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577330934	chr11:62295168-62295169	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7112976	chr11:62295180-62295181	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs367786622	chr11:62295191-62295192	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139346479	chr11:62295202-62295203	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1296331	chr11:62295216-62295217	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372211758	chr11:62295220-62295221	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs373781950	chr11:62295229-62295230	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs367622587	chr11:62295244-62295245	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565144763	chr11:62295246-62295247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144095765	chr11:62295247-62295248	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs201443522	chr11:62295261-62295262	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201808161	chr11:62295270-62295271	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149402141	chr11:62295271-62295272	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540699625	chr11:62295273-62295274	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560936841	chr11:62295312-62295313	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1787043	chr11:62295315-62295316	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368209141	chr11:62295319-62295320	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs1634804	chr11:62295321-62295322	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200438956	chr11:62295350-62295351	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs145871196	chr11:62295361-62295362	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141102768	chr11:62295398-62295399	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566790206	chr11:62295418-62295419	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552335352	chr11:62295436-62295437	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201391281	chr11:62295437-62295438	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs199589476	chr11:62295440-62295441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs138004081	chr11:62295480-62295481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs1292962	chr11:62295484-62295485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1292963	chr11:62295490-62295491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1292964	chr11:62295498-62295499	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141750211	chr11:62295504-62295505	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs143740534	chr11:62295506-62295507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs111317293	chr11:62295519-62295520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs370948520	chr11:62295528-62295529	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
2	chr11:62276600-62299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:62276800-62298600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:62276800-62298800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
7	chr11:62279600-62296200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:62281200-62303400	Strong transcription	Gastric	stomach
12	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:62281400-62303200	Strong transcription	Lung	lung
16	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
18	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:62281800-62295200	Strong transcription	HSMMtube	muscle
21	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
27	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr11:62282000-62303600	Strong transcription	Osteobl	bone
30	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:62282000-62304800	Strong transcription	HSMM	muscle
34	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:62282400-62302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:62282600-62295400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:62283000-62297600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:62283000-62300200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:62283000-62302800	Strong transcription	NH-A	brain
42	chr11:62283000-62304400	Strong transcription	HMEC	breast
43	chr11:62283200-62295600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:62283200-62301200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:62283200-62305000	Strong transcription	NHEK	skin
46	chr11:62283400-62295200	Strong transcription	Psoas Muscle	Psoas
47	chr11:62283400-62301600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:62283400-62302800	Strong transcription	HUVEC	blood vessel
49	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:62283600-62303200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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