Variant report

Variant	esv3405749
Chromosome Location	chr15:57462060-57463958
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	chr15:57463088..57465756-chr15:57508585..57510347,2	K562	blood:
2	chr15:57455822..57459660-chr15:57459793..57463259,4	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2703611	chr15:57462086-57462087	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548481470	chr15:57462129-57462130	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568238601	chr15:57462164-57462165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72731974	chr15:57462177-57462178	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184267749	chr15:57462231-57462232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570654339	chr15:57462313-57462314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190575278	chr15:57462351-57462352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533740607	chr15:57462472-57462473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552688797	chr15:57462492-57462493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79293213	chr15:57462571-57462572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377542324	chr15:57462659-57462660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374401600	chr15:57462670-57462671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182321819	chr15:57462687-57462688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62024413	chr15:57462725-57462726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534680623	chr15:57462726-57462727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555248375	chr15:57462727-57462728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574994406	chr15:57462814-57462815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202052973	chr15:57462828-57462829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55668335	chr15:57462848-57462849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58357152	chr15:57462850-57462851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56673384	chr15:57462851-57462852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564415523	chr15:57462857-57462858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67270962	chr15:57462859-57462860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35516503	chr15:57462860-57462861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58506370	chr15:57462862-57462863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56822896	chr15:57462869-57462870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12911384	chr15:57462872-57462873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376492287	chr15:57462874-57462875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12911393	chr15:57462879-57462880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12911401	chr15:57462886-57462887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71113072	chr15:57462887-57462888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs68069722	chr15:57462891-57462892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28408364	chr15:57462894-57462895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28403325	chr15:57462895-57462896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59900632	chr15:57462896-57462897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61044636	chr15:57462897-57462898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375293455	chr15:57462903-57462904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56119359	chr15:57462904-57462905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59053837	chr15:57462910-57462911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55966922	chr15:57462911-57462912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56001512	chr15:57462919-57462920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58563629	chr15:57462920-57462921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367596227	chr15:57462928-57462929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57696089	chr15:57462930-57462931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57234077	chr15:57462932-57462933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371384017	chr15:57462935-57462936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371475376	chr15:57462936-57462937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537741356	chr15:57462970-57462971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557179265	chr15:57462971-57462972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370771443	chr15:57462977-57462978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
4	chr15:57444400-57507400	Weak transcription	K562	blood
5	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:57445200-57466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:57445400-57478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:57446000-57468400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:57447000-57484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:57447800-57466000	Weak transcription	Pancreas	Pancrea
13	chr15:57448000-57465600	Weak transcription	Right Ventricle	heart
14	chr15:57448000-57483800	Weak transcription	Lung	lung
15	chr15:57448800-57463400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:57450800-57469000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:57450800-57491000	Weak transcription	Left Ventricle	heart
18	chr15:57451000-57464400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:57451000-57477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:57451000-57487800	Weak transcription	Psoas Muscle	Psoas
21	chr15:57451000-57490800	Weak transcription	NHEK	skin
22	chr15:57451200-57463600	Weak transcription	Hela-S3	cervix
23	chr15:57451200-57470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:57451200-57475000	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:57451200-57475400	Weak transcription	Adipose Nuclei	Adipose
26	chr15:57451200-57478600	Weak transcription	HMEC	breast
27	chr15:57451200-57484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:57451200-57484200	Weak transcription	Esophagus	oesophagus
29	chr15:57451200-57490400	Weak transcription	Ovary	ovary
30	chr15:57451400-57463200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:57451400-57463600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:57451600-57491200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:57451800-57478400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:57452200-57481600	Weak transcription	Fetal Heart	heart
35	chr15:57452400-57465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:57452400-57475400	Weak transcription	Fetal Lung	lung
37	chr15:57452400-57490400	Weak transcription	Fetal Brain Female	brain
38	chr15:57452800-57470800	Weak transcription	Brain Anterior Caudate	brain
39	chr15:57453400-57464600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:57453400-57465200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:57453800-57485400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:57454000-57465000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:57454000-57465000	Weak transcription	NHDF-Ad	bronchial
45	chr15:57457200-57499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:57457400-57478400	Weak transcription	Fetal Muscle Leg	muscle
47	chr15:57458000-57464200	Strong transcription	Dnd41	blood
48	chr15:57458200-57505200	Strong transcription	Fetal Thymus	thymus
49	chr15:57458600-57468600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:57458800-57463800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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