Variant report

Variant	esv1009383
Chromosome Location	chr15:59431106-59432272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59386300..59388810-chr15:59428638..59431264,2	K562	blood:
2	chr13:72768997..72769526-chr15:59430628..59431390,2	MCF-7	breast:
3	chr15:58536925..58538798-chr15:59431746..59434550,2	K562	blood:

Variant related genes	Relation type
ENSG00000128918	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189461663	chr15:59431110-59431111	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115693599	chr15:59431148-59431149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531301084	chr15:59431196-59431197	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75387737	chr15:59431199-59431200	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117803799	chr15:59431200-59431201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528703053	chr15:59431201-59431202	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559411795	chr15:59431249-59431250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141051264	chr15:59431252-59431253	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538968629	chr15:59431271-59431272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533832772	chr15:59431341-59431342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368800440	chr15:59431346-59431347	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557435446	chr15:59431368-59431369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150237271	chr15:59431418-59431419	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371941866	chr15:59431429-59431430	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555484843	chr15:59431431-59431432	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56764596	chr15:59431433-59431434	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540379641	chr15:59431434-59431435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57932086	chr15:59431445-59431446	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386784469	chr15:59431453-59431454	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147370787	chr15:59431454-59431455	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151103673	chr15:59431466-59431467	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142451490	chr15:59431467-59431468	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12898671	chr15:59431470-59431471	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57442888	chr15:59431502-59431503	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58307580	chr15:59431519-59431520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59504882	chr15:59431531-59431532	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56662858	chr15:59431533-59431534	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577975870	chr15:59431539-59431540	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191250073	chr15:59431553-59431554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139252718	chr15:59431554-59431555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58014933	chr15:59431555-59431556	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs28439640	chr15:59431564-59431565	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138525770	chr15:59431567-59431568	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12899097	chr15:59431575-59431576	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12898705	chr15:59431582-59431583	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12898845	chr15:59431586-59431587	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12898851	chr15:59431593-59431594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542747000	chr15:59431602-59431603	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560028870	chr15:59431603-59431604	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561395627	chr15:59431610-59431611	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149233036	chr15:59431621-59431622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546765811	chr15:59431624-59431625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557626765	chr15:59431653-59431654	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147998608	chr15:59431666-59431667	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201115881	chr15:59431697-59431698	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34619596	chr15:59431699-59431700	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59200335	chr15:59431700-59431701	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552965206	chr15:59431701-59431702	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532652117	chr15:59431724-59431725	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113869866	chr15:59431734-59431735	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	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
Mental retardation	17124404	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
2	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:59399600-59437000	Strong transcription	Fetal Thymus	thymus
4	chr15:59401200-59439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:59409600-59438600	Weak transcription	Primary T cells from cord blood	blood
6	chr15:59421000-59437600	Strong transcription	Dnd41	blood
7	chr15:59421400-59433600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:59421400-59453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:59421800-59432200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:59421800-59433200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:59422200-59438800	Strong transcription	Thymus	Thymus
12	chr15:59422200-59451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:59422600-59431200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:59422600-59431200	Strong transcription	HepG2	liver
15	chr15:59422600-59432800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:59422600-59432800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:59422600-59439600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:59422600-59440200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:59422600-59440600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:59422600-59447600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr15:59422600-59451000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:59422800-59433600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:59422800-59436400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:59422800-59437000	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:59423000-59432800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:59423000-59433200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:59423000-59433400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:59423000-59440000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:59423000-59440200	Strong transcription	Fetal Stomach	stomach
30	chr15:59423200-59432800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:59423200-59437200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:59423400-59432800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:59423400-59432800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:59423400-59433600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:59423400-59437000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr15:59423400-59439200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:59423600-59431200	Strong transcription	HMEC	breast
38	chr15:59423800-59431200	Strong transcription	HSMM	muscle
39	chr15:59423800-59431200	Strong transcription	NH-A	brain
40	chr15:59423800-59432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:59423800-59432600	Strong transcription	NHEK	skin
42	chr15:59423800-59433800	Strong transcription	Osteobl	bone
43	chr15:59424000-59431400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:59424000-59433600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:59424000-59435600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:59424400-59432200	Strong transcription	A549	lung
47	chr15:59424400-59461400	Strong transcription	Hela-S3	cervix
48	chr15:59424800-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:59425200-59455200	Strong transcription	Fetal Intestine Small	intestine
50	chr15:59425400-59432800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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