Variant report

Variant	esv3311223
Chromosome Location	chr15:50921354-50921798
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	MAFF	chr15:50921201-50921441	HepG2	liver:	n/a	chr15:50921269-50921287
2	MAFK	chr15:50921168-50921395	HepG2	liver:	n/a	chr15:50921271-50921286
3	MAFK	chr15:50921149-50921407	HepG2	liver:	n/a	chr15:50921271-50921286
4	POLR2A	chr15:50921382-50921558	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:50921517-50921546	A549	lung:	n/a	n/a
6	POLR2A	chr15:50921370-50921582	ProgFib	skin:	n/a	n/a
7	POLR2A	chr15:50921591-50921605	ProgFib	skin:	n/a	n/a
8	POLR2A	chr15:50921509-50921514	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50916413..50918620-chr15:50919827..50924015,3	K562	blood:
2	chr15:50885914..50887497-chr15:50920391..50922756,2	K562	blood:

Variant related genes	Relation type
TRPM7	TF binding region
ENSG00000092439	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72740450	chr15:50921364-50921365	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552964687	chr15:50921493-50921494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574501396	chr15:50921498-50921499	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs573426208	chr15:50921509-50921510	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117739068	chr15:50921534-50921535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575531895	chr15:50921541-50921542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557803242	chr15:50921545-50921546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs564355101	chr15:50921658-50921659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190154700	chr15:50921685-50921686	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532425403	chr15:50921693-50921694	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75428676	chr15:50921798-50921799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:50851800-50936400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr15:50857400-50922800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:50869800-50922800	Weak transcription	Gastric	stomach
6	chr15:50869800-50967600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr15:50871600-50957600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:50878800-50922200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:50880400-50935800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:50884000-50923000	Weak transcription	Pancreas	Pancrea
11	chr15:50885400-50921400	Weak transcription	Esophagus	oesophagus
12	chr15:50890800-50929400	Weak transcription	Fetal Brain Male	brain
13	chr15:50891000-50921400	Weak transcription	Psoas Muscle	Psoas
14	chr15:50891000-50933200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:50894400-50955600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:50895000-50954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:50895200-50959000	Strong transcription	Liver	Liver
18	chr15:50895400-50934400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:50895400-50944800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:50905000-50922000	Weak transcription	Fetal Brain Female	brain
21	chr15:50905000-50922600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:50905000-50922600	Weak transcription	Fetal Kidney	kidney
23	chr15:50905000-50922800	Weak transcription	NHLF	lung
24	chr15:50905400-50922800	Weak transcription	Brain Substantia Nigra	brain
25	chr15:50906400-50977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:50908000-50961800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:50908600-50936400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:50910600-50923600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:50910800-50936200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:50910800-50943800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr15:50911000-50925200	Strong transcription	Hela-S3	cervix
32	chr15:50911800-50922200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:50911800-50923000	Weak transcription	Right Ventricle	heart
34	chr15:50913000-50937800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:50913400-50944200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr15:50913800-50936800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:50914000-50927000	Strong transcription	Dnd41	blood
38	chr15:50914200-50927200	Weak transcription	Small Intestine	intestine
39	chr15:50914600-50922800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:50914600-50923800	Strong transcription	HSMM	muscle
41	chr15:50915800-50936800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:50915800-50943600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr15:50916000-50946200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:50916000-50959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:50916400-50922800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:50916600-50936200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr15:50917200-50924800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:50917400-50946600	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr15:50917600-50923600	Strong transcription	GM12878-XiMat	blood
50	chr15:50917600-50924200	Strong transcription	Fetal Thymus	thymus

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