Variant report

Variant	esv2761777
Chromosome Location	chr15:56787676-56813406
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56788456..56789162-chr15:57113822..57114589,2	MCF-7	breast:
2	chr15:56788688..56789403-chr15:57430424..57431057,2	MCF-7	breast:
3	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
4	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
5	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
6	chr15:56788851..56789408-chr15:57103635..57104349,2	MCF-7	breast:
7	chr15:56788702..56789394-chr15:57161523..57162414,2	MCF-7	breast:
8	chr15:56788444..56789415-chr15:57598413..57599206,3	K562	blood:
9	chr15:56788753..56789362-chr15:57161247..57161954,2	K562	blood:
10	chr15:56788863..56789371-chr16:34759996..34760825,2	MCF-7	breast:
11	chr15:56787707..56790107-chr15:57597582..57600140,2	MCF-7	breast:

No data

Extended variants
information (count: 449 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:449 , 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	rs1715935	chr15:56787698-56787699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1711506	chr15:56787709-56787710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536493487	chr15:56787711-56787712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544471856	chr15:56787715-56787716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564475095	chr15:56787723-56787724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143680099	chr15:56787735-56787736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540489474	chr15:56787764-56787765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147213898	chr15:56787770-56787771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556709577	chr15:56787811-56787812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549106943	chr15:56787883-56787884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570263198	chr15:56787889-56787890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539274696	chr15:56787910-56787911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140648195	chr15:56787935-56787936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191591087	chr15:56788068-56788069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571436891	chr15:56788084-56788085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556377469	chr15:56788127-56788128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554070686	chr15:56788139-56788140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111452959	chr15:56788142-56788143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566863913	chr15:56788189-56788190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184674024	chr15:56788190-56788191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144773702	chr15:56788192-56788193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555870569	chr15:56788206-56788207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575635265	chr15:56788216-56788217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553478933	chr15:56788243-56788244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142229760	chr15:56788245-56788246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189140984	chr15:56788258-56788259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577774379	chr15:56788265-56788266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540528013	chr15:56788272-56788273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560410357	chr15:56788387-56788388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528922127	chr15:56788412-56788413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151241085	chr15:56788429-56788430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182435596	chr15:56788449-56788450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139256174	chr15:56788497-56788498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374303305	chr15:56788501-56788502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116359158	chr15:56788550-56788551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7174104	chr15:56788677-56788678	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370777313	chr15:56788700-56788701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527438207	chr15:56788754-56788755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547762545	chr15:56788757-56788758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78358989	chr15:56788799-56788800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371022504	chr15:56788800-56788801	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201986001	chr15:56788804-56788805	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs545292328	chr15:56788812-56788813	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535879801	chr15:56788815-56788816	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185387099	chr15:56788856-56788857	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373450506	chr15:56788864-56788865	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189167281	chr15:56788865-56788866	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs537957503	chr15:56788968-56788969	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577469863	chr15:56788979-56788980	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7175164	chr15:56789010-56789011	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56783800-56789000	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:56785400-56789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:56785400-56789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:56785400-56789200	Enhancers	Thymus	Thymus
5	chr15:56786200-56787800	Enhancers	Dnd41	blood
6	chr15:56786200-56789400	Enhancers	Fetal Thymus	thymus
7	chr15:56786600-56788000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr15:56786600-56788000	Enhancers	Stomach Mucosa	stomach
9	chr15:56786600-56788400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:56787000-56788200	Enhancers	Fetal Intestine Small	intestine
11	chr15:56787400-56787800	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:56787400-56788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:56787400-56788200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr15:56787800-56788800	Weak transcription	Dnd41	blood
15	chr15:56787800-56789000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:56788000-56788200	Enhancers	Fetal Intestine Large	intestine
17	chr15:56788000-56788800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:56788000-56789000	Weak transcription	Stomach Mucosa	stomach
19	chr15:56788200-56788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:56788200-56789000	Weak transcription	Fetal Intestine Large	intestine
21	chr15:56788200-56789200	Weak transcription	Fetal Intestine Small	intestine
22	chr15:56788400-56788800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr15:56788800-56789000	Enhancers	Brain Angular Gyrus	brain
24	chr15:56788800-56789000	Active TSS	Brain Anterior Caudate	brain
25	chr15:56788800-56789000	Active TSS	Stomach Smooth Muscle	stomach
26	chr15:56788800-56789200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:56788800-56789200	Active TSS	Brain Substantia Nigra	brain
28	chr15:56788800-56789200	Active TSS	Colon Smooth Muscle	Colon
29	chr15:56788800-56789200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr15:56788800-56789400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr15:56788800-56789400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr15:56788800-56790800	Enhancers	Dnd41	blood
33	chr15:56789000-56789200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:56789000-56789200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:56789000-56789200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:56789000-56789200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr15:56789000-56789200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
38	chr15:56789000-56789200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:56789000-56789200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:56789000-56789200	Enhancers	Brain Hippocampus Middle	brain
41	chr15:56789000-56789200	Enhancers	Fetal Kidney	kidney
42	chr15:56789000-56789200	Enhancers	Psoas Muscle	Psoas
43	chr15:56789000-56789200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:56789000-56789200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr15:56789000-56789200	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr15:56789000-56789200	Enhancers	HMEC	breast
47	chr15:56789000-56789200	Enhancers	NH-A	brain
48	chr15:56789000-56789200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr15:56789000-56789200	Flanking Active TSS	NHEK	skin
50	chr15:56789000-56789200	Flanking Active TSS	NHLF	lung

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