Variant report

Variant	esv1801387
Chromosome Location	chr15:77660093-77673776
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
2	chr15:77673612..77675900-chr15:77720669..77722192,2	K562	blood:
3	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
4	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
5	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:
6	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
7	chr15:77661189..77663862-chr15:77711525..77713281,2	MCF-7	breast:
8	chr15:77662346..77663859-chr15:77693628..77695822,2	K562	blood:
9	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
10	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173517	chromatin interactions
ENSG00000140382	chromatin interactions

Extended variants
information (count: 436 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7162362	chr15:77660093-77660094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560389648	chr15:77660137-77660138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148428645	chr15:77660157-77660158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548980746	chr15:77660161-77660162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560881229	chr15:77660189-77660190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190399177	chr15:77660228-77660229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549904440	chr15:77660335-77660336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17470228	chr15:77660345-77660346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs540013614	chr15:77660351-77660352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551734391	chr15:77660355-77660356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567133064	chr15:77660363-77660364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534256466	chr15:77660388-77660389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568190366	chr15:77660437-77660438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555309150	chr15:77660460-77660461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181257274	chr15:77660472-77660473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535629832	chr15:77660505-77660506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537918108	chr15:77660524-77660525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200571935	chr15:77660534-77660535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556631710	chr15:77660593-77660594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374092414	chr15:77660618-77660619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578060600	chr15:77660632-77660633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571570778	chr15:77660633-77660634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534128558	chr15:77660684-77660685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554001515	chr15:77660764-77660765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185316618	chr15:77660765-77660766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191049561	chr15:77660826-77660827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536324519	chr15:77660838-77660839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556006773	chr15:77660839-77660840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542947791	chr15:77660845-77660846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78319558	chr15:77660859-77660860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76532373	chr15:77660860-77660861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182749726	chr15:77660931-77660932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142637267	chr15:77660951-77660952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543086066	chr15:77660963-77660964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564971326	chr15:77660984-77660985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532154076	chr15:77660986-77660987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575958689	chr15:77660992-77660993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551940908	chr15:77661093-77661094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566959798	chr15:77661102-77661103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16968804	chr15:77661110-77661111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187821260	chr15:77661124-77661125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192064744	chr15:77661173-77661174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544686613	chr15:77661225-77661226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537830209	chr15:77661241-77661242	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150972938	chr15:77661281-77661282	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs183292643	chr15:77661329-77661330	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538768349	chr15:77661347-77661348	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553887976	chr15:77661365-77661366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs79604561	chr15:77661404-77661405	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs187592131	chr15:77661463-77661464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:110 , 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	chr15:77639600-77664400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
4	chr15:77640400-77662200	Weak transcription	HepG2	liver
5	chr15:77642600-77664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:77642600-77664800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:77645800-77662800	Weak transcription	Brain Angular Gyrus	brain
8	chr15:77645800-77664200	Weak transcription	Brain Anterior Caudate	brain
9	chr15:77645800-77665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:77645800-77665800	Weak transcription	Pancreas	Pancrea
11	chr15:77645800-77674000	Weak transcription	Ovary	ovary
12	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
13	chr15:77646600-77661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:77646600-77661400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:77646800-77666000	Weak transcription	Stomach Mucosa	stomach
16	chr15:77647000-77687200	Weak transcription	A549	lung
17	chr15:77648600-77685800	Weak transcription	Gastric	stomach
18	chr15:77649800-77661200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:77651600-77660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:77651600-77664000	Weak transcription	Fetal Heart	heart
21	chr15:77651600-77674000	Weak transcription	Psoas Muscle	Psoas
22	chr15:77654400-77664400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr15:77655200-77664400	Weak transcription	Fetal Brain Male	brain
24	chr15:77656000-77666000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:77656000-77674000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:77656200-77661800	Weak transcription	NHDF-Ad	bronchial
27	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:77656400-77661400	Weak transcription	Osteobl	bone
29	chr15:77656400-77664200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:77656400-77665200	Weak transcription	Left Ventricle	heart
31	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:77656600-77660200	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:77656600-77660600	Weak transcription	Fetal Intestine Small	intestine
34	chr15:77656600-77661400	Weak transcription	Adipose Nuclei	Adipose
35	chr15:77656600-77661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:77656600-77664600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:77656600-77665600	Weak transcription	Fetal Stomach	stomach
38	chr15:77657000-77661200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:77657200-77661000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:77657200-77661800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:77659600-77660400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:77660400-77671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:77661000-77661200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr15:77661000-77661800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:77661200-77661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:77661200-77664800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:77661400-77661600	Enhancers	Adipose Nuclei	Adipose
48	chr15:77661400-77661800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:77661400-77661800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr15:77661400-77662200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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