Variant report

Variant	esv1801694
Chromosome Location	chr15:77658980-77673459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
2	chr15:77661189..77663862-chr15:77711525..77713281,2	MCF-7	breast:
3	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
4	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
5	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
6	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
7	chr15:77662346..77663859-chr15:77693628..77695822,2	K562	blood:
8	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
9	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173517	chromatin interactions
ENSG00000140382	chromatin interactions

Extended variants
information (count: 464 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76282718	chr15:77659019-77659020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191872004	chr15:77659084-77659085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528542108	chr15:77659149-77659150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112942690	chr15:77659157-77659158	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs561498620	chr15:77659176-77659177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529062945	chr15:77659191-77659192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144186309	chr15:77659194-77659195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568808826	chr15:77659220-77659221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533285863	chr15:77659226-77659227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184048749	chr15:77659243-77659244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566479472	chr15:77659244-77659245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533625687	chr15:77659263-77659264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188341717	chr15:77659305-77659306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568632121	chr15:77659334-77659335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180711883	chr15:77659341-77659342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557613873	chr15:77659385-77659386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575830535	chr15:77659390-77659391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531256338	chr15:77659419-77659420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540140544	chr15:77659444-77659445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557838076	chr15:77659467-77659468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529334975	chr15:77659485-77659486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573193055	chr15:77659515-77659516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145528610	chr15:77659518-77659519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561837646	chr15:77659537-77659538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184469691	chr15:77659587-77659588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573842966	chr15:77659616-77659617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543982817	chr15:77659631-77659632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562378510	chr15:77659642-77659643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533046323	chr15:77659652-77659653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372435141	chr15:77659657-77659658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371285705	chr15:77659658-77659659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559850464	chr15:77659737-77659738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190552143	chr15:77659785-77659786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549043768	chr15:77659807-77659808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182325553	chr15:77659861-77659862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537971925	chr15:77659865-77659866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549241398	chr15:77659884-77659885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116478012	chr15:77659916-77659917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539696859	chr15:77659956-77659957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76300995	chr15:77659974-77659975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13380202	chr15:77659982-77659983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs533929951	chr15:77659983-77659984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555370474	chr15:77659990-77659991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573781524	chr15:77660014-77660015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544317460	chr15:77660027-77660028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185977411	chr15:77660044-77660045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577773358	chr15:77660087-77660088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7162362	chr15:77660093-77660094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs560389648	chr15:77660137-77660138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148428645	chr15:77660157-77660158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77637200-77666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:77639200-77659000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr15:77639600-77664400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
5	chr15:77640400-77662200	Weak transcription	HepG2	liver
6	chr15:77642600-77664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:77642600-77664800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:77645800-77662800	Weak transcription	Brain Angular Gyrus	brain
9	chr15:77645800-77664200	Weak transcription	Brain Anterior Caudate	brain
10	chr15:77645800-77665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:77645800-77665800	Weak transcription	Pancreas	Pancrea
12	chr15:77645800-77674000	Weak transcription	Ovary	ovary
13	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
14	chr15:77646600-77661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:77646600-77661400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:77646800-77666000	Weak transcription	Stomach Mucosa	stomach
17	chr15:77647000-77687200	Weak transcription	A549	lung
18	chr15:77648600-77685800	Weak transcription	Gastric	stomach
19	chr15:77649800-77661200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:77651600-77660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:77651600-77664000	Weak transcription	Fetal Heart	heart
22	chr15:77651600-77674000	Weak transcription	Psoas Muscle	Psoas
23	chr15:77654400-77664400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:77655200-77664400	Weak transcription	Fetal Brain Male	brain
25	chr15:77656000-77666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:77656000-77674000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:77656200-77661800	Weak transcription	NHDF-Ad	bronchial
28	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:77656400-77659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:77656400-77661400	Weak transcription	Osteobl	bone
31	chr15:77656400-77664200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:77656400-77665200	Weak transcription	Left Ventricle	heart
33	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:77656600-77660200	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:77656600-77660600	Weak transcription	Fetal Intestine Small	intestine
36	chr15:77656600-77661400	Weak transcription	Adipose Nuclei	Adipose
37	chr15:77656600-77661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:77656600-77664600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:77656600-77665600	Weak transcription	Fetal Stomach	stomach
40	chr15:77657000-77661200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:77657200-77661000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:77657200-77661800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:77659600-77660400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:77660400-77671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:77661000-77661200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr15:77661000-77661800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:77661200-77661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:77661200-77664800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:77661400-77661600	Enhancers	Adipose Nuclei	Adipose
50	chr15:77661400-77661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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