Variant report

Variant	esv3447681
Chromosome Location	chr15:73054993-73055352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:73055300-73055450	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73053001..73055087-chr15:73074659..73077340,2	K562	blood:
2	chr15:73054668..73057321-chr17:56707852..56709605,2	MCF-7	breast:

Variant related genes	Relation type
ADPGK	TF binding region
ENSG00000260898	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000159322	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552722299	chr15:73055015-73055016	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs10152150	chr15:73055034-73055035	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs71137320	chr15:73055049-73055050	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370017410	chr15:73055060-73055061	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148947344	chr15:73055070-73055071	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs371706052	chr15:73055073-73055074	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs574247585	chr15:73055082-73055083	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs375064139	chr15:73055088-73055089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547108262	chr15:73055090-73055091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372761741	chr15:73055142-73055143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181175078	chr15:73055152-73055153	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535849524	chr15:73055175-73055176	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs55682203	chr15:73055217-73055218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542932618	chr15:73055343-73055344	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:73041800-73071000	Strong transcription	Liver	Liver
3	chr15:73042200-73055400	Strong transcription	Fetal Muscle Leg	muscle
4	chr15:73042200-73056200	Strong transcription	Thymus	Thymus
5	chr15:73042200-73058600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:73042200-73058600	Strong transcription	A549	lung
7	chr15:73043400-73055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:73043400-73055800	Strong transcription	Fetal Stomach	stomach
9	chr15:73043400-73056200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:73043400-73056600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:73043400-73056600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr15:73043400-73056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
16	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
17	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
19	chr15:73043800-73057000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:73043800-73057200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
22	chr15:73044000-73057400	Strong transcription	Dnd41	blood
23	chr15:73044000-73058600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:73044200-73059200	Strong transcription	Primary T cells from cord blood	blood
25	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr15:73044400-73056400	Weak transcription	Fetal Heart	heart
27	chr15:73044400-73056400	Strong transcription	Hela-S3	cervix
28	chr15:73044600-73056200	Strong transcription	Ovary	ovary
29	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:73045200-73058800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr15:73045400-73059800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:73045400-73060800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr15:73045400-73066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:73045600-73055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
37	chr15:73045800-73059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:73046200-73059200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr15:73046600-73056600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:73046600-73058800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:73046600-73059200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:73046800-73059000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:73046800-73060600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr15:73046800-73067600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:73049000-73056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:73049000-73059800	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:73049000-73063800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr15:73049200-73059000	Weak transcription	Stomach Mucosa	stomach
50	chr15:73049200-73059800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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