Variant report

Variant	esv3357572
Chromosome Location	chr15:75499749-75502247
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75336184..75338674-chr15:75501578..75503500,2	K562	blood:
2	chr15:75490684..75493339-chr15:75497415..75499804,2	K562	blood:
3	chr15:75490911..75492731-chr15:75500862..75503118,2	K562	blood:
4	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
5	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
6	chr15:75328687..75330219-chr15:75500144..75502593,2	K562	blood:
7	chr15:75333438..75336003-chr15:75501359..75502972,2	K562	blood:
8	chr15:75315116..75318130-chr15:75502238..75505511,3	K562	blood:
9	chr15:75470764..75472430-chr15:75499470..75502455,2	K562	blood:
10	chr15:75337372..75339109-chr15:75499292..75501043,2	K562	blood:
11	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
12	chr15:75331603..75340227-chr15:75492938..75499942,15	K562	blood:
13	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260483	chromatin interactions
ENSG00000167173	chromatin interactions
ENSG00000138621	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376778992	chr15:75499749-75499750	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs553765076	chr15:75499768-75499769	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs572231506	chr15:75499775-75499776	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs141245544	chr15:75499776-75499777	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542476383	chr15:75499783-75499784	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs200450891	chr15:75499805-75499806	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140176050	chr15:75499807-75499808	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200819694	chr15:75499819-75499820	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202136304	chr15:75499821-75499822	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543541900	chr15:75499830-75499831	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375787232	chr15:75499848-75499849	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs11072532	chr15:75499861-75499862	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541739163	chr15:75499863-75499864	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143373868	chr15:75499903-75499904	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142293791	chr15:75499914-75499915	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140432747	chr15:75499926-75499927	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150407602	chr15:75499927-75499928	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567608197	chr15:75499933-75499934	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138252891	chr15:75499935-75499936	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371897103	chr15:75499945-75499946	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142836817	chr15:75499946-75499947	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375267478	chr15:75499952-75499953	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556739603	chr15:75499963-75499964	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548506842	chr15:75499994-75499995	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs28509789	chr15:75499995-75499996	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
26	rs200183502	chr15:75499997-75499998	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530957482	chr15:75500021-75500022	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368603329	chr15:75500039-75500040	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35197068	chr15:75500086-75500087	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs146168694	chr15:75500129-75500130	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567415603	chr15:75500147-75500148	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139044762	chr15:75500149-75500150	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534673712	chr15:75500153-75500154	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183017901	chr15:75500159-75500160	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144091400	chr15:75500164-75500165	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201629951	chr15:75500174-75500175	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370287720	chr15:75500176-75500177	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs554516746	chr15:75500184-75500185	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs148696243	chr15:75500232-75500233	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149895063	chr15:75500238-75500239	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201109052	chr15:75500253-75500254	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs558664985	chr15:75500255-75500256	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs200220567	chr15:75500257-75500258	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368116670	chr15:75500298-75500299	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142042892	chr15:75500324-75500325	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs192815457	chr15:75500329-75500330	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150714455	chr15:75500330-75500331	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139483881	chr15:75500332-75500333	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575034750	chr15:75500341-75500342	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs145121826	chr15:75500362-75500363	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	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
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75495800-75500000	Weak transcription	Brain Germinal Matrix	brain
2	chr15:75496200-75506000	Weak transcription	Fetal Brain Female	brain
3	chr15:75496400-75500400	Weak transcription	Right Atrium	heart
4	chr15:75496400-75504000	Weak transcription	HSMMtube	muscle
5	chr15:75496400-75506000	Weak transcription	Psoas Muscle	Psoas
6	chr15:75496600-75501600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:75496600-75506600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:75496800-75500400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:75496800-75507200	Weak transcription	NH-A	brain
10	chr15:75497200-75500200	Weak transcription	Brain Anterior Caudate	brain
11	chr15:75497600-75500200	Weak transcription	NHDF-Ad	bronchial
12	chr15:75497600-75500400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:75497600-75500600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:75497600-75501000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:75497600-75501200	Weak transcription	Brain Angular Gyrus	brain
16	chr15:75497600-75501400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:75497600-75501400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:75497600-75501600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:75497600-75507000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:75497800-75499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:75497800-75499800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:75497800-75499800	Genic enhancers	HepG2	liver
23	chr15:75497800-75500200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:75497800-75500200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr15:75497800-75500400	Strong transcription	Dnd41	blood
26	chr15:75497800-75500600	Weak transcription	Fetal Heart	heart
27	chr15:75497800-75501200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:75497800-75501400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:75497800-75501800	Strong transcription	Fetal Thymus	thymus
30	chr15:75497800-75502200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:75497800-75504200	Strong transcription	Hela-S3	cervix
32	chr15:75497800-75505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:75497800-75506400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:75498000-75499800	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:75498000-75500200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:75498000-75500400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:75498000-75501200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr15:75498000-75501200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr15:75498000-75502000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:75498000-75502000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:75498000-75502800	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr15:75498000-75503000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:75498000-75503000	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr15:75498000-75503000	Strong transcription	NHEK	skin
45	chr15:75498000-75503200	Genic enhancers	Placenta	Placenta
46	chr15:75498000-75504000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr15:75498000-75504200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:75498000-75504400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr15:75498000-75505800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr15:75498000-75505800	Strong transcription	Rectal Mucosa Donor 31	rectum

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