Variant report

Variant	esv3329613
Chromosome Location	chr11:62288961-62289163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr11:62289012-62289560	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:62280310-62302884	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:62288657-62291256	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:62289016-62289390	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:62288831-62289480	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:62288452-62289289	U87	brain:	n/a	n/a
7	POLR2A	chr11:62288715-62289515	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:62288554-62289382	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr11:62279462-62304472	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr11:62288752-62289415	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:62288701-62289195	U87	brain:	n/a	n/a
12	POLR2A	chr11:62288806-62289448	A549	lung:	n/a	n/a
13	POLR2A	chr11:62282830-62289046	U87	brain:	n/a	n/a
14	POLR2A	chr11:62288751-62289379	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62288556..62291730-chr11:62296512..62299721,3	K562	blood:
2	chr11:62283427..62285166-chr11:62288385..62290574,2	K562	blood:
3	chr11:62284059..62287023-chr11:62287270..62290122,2	MCF-7	breast:
4	chr11:62288270..62291240-chr11:62300748..62302459,2	K562	blood:

No data

Variant related genes	Relation type
AHNAK	TF binding region
ENSG00000124942	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375181293	chr11:62288965-62288966	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373210455	chr11:62288966-62288967	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11828907	chr11:62288978-62288979	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529841298	chr11:62288989-62288990	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370412640	chr11:62289013-62289014	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371980077	chr11:62289019-62289020	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150830843	chr11:62289033-62289034	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138243160	chr11:62289038-62289039	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372612842	chr11:62289045-62289046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142748461	chr11:62289072-62289073	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201152312	chr11:62289077-62289078	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs80154679	chr11:62289078-62289079	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557285	chr11:62289082-62289083	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557289	chr11:62289085-62289086	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570234261	chr11:62289103-62289104	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538830133	chr11:62289106-62289107	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558840213	chr11:62289125-62289126	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376657199	chr11:62289135-62289136	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region 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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62276400-62290800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
3	chr11:62276600-62290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:62276600-62290800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:62276600-62292000	Weak transcription	Fetal Kidney	kidney
6	chr11:62276600-62299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:62276800-62298600	Weak transcription	Brain Substantia Nigra	brain
9	chr11:62276800-62298800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
11	chr11:62279600-62296200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:62281200-62303400	Strong transcription	Gastric	stomach
16	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:62281400-62303200	Strong transcription	Lung	lung
20	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
22	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:62281800-62295200	Strong transcription	HSMMtube	muscle
25	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
31	chr11:62282000-62291800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:62282000-62303600	Strong transcription	Osteobl	bone
35	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:62282000-62304800	Strong transcription	HSMM	muscle
39	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:62282400-62289000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:62282400-62290800	Weak transcription	Fetal Heart	heart
42	chr11:62282400-62302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:62282600-62295400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:62283000-62289400	Strong transcription	Hela-S3	cervix
47	chr11:62283000-62297600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:62283000-62300200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:62283000-62302800	Strong transcription	NH-A	brain
50	chr11:62283000-62304400	Strong transcription	HMEC	breast

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