Variant report

Variant	esv3447703
Chromosome Location	chr15:75086381-75086600
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	ELF1	chr15:75086008-75086419	GM12878	blood:	n/a	n/a
2	MXI1	chr15:75085852-75086395	IMR90	lung:	n/a	n/a
3	POLR2A	chr15:75086390-75086808	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:75086282-75086404	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:75086468-75087213	GM12892	blood:	n/a	n/a
6	POLR2A	chr15:75083936-75087476	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:75085569-75086434	HL-60	blood:	n/a	n/a
8	POLR2A	chr15:75086372-75086895	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:75086144-75088068	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75080218..75087203-chr15:75106250..75113071,13	MCF-7	breast:
2	chr15:75070332..75070925-chr15:75086102..75086731,2	MCF-7	breast:
3	chr15:75085754..75088425-chr15:75092010..75094083,2	MCF-7	breast:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000140506	chromatin interactions
ENSG00000261606	chromatin interactions
ENSG00000103653	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72730503	chr15:75086386-75086387	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190548137	chr15:75086395-75086396	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs150709274	chr15:75086421-75086422	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs111925049	chr15:75086449-75086450	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs576150401	chr15:75086487-75086488	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs187038220	chr15:75086489-75086490	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs191797153	chr15:75086491-75086492	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs62006565	chr15:75086504-75086505	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
9	rs62006566	chr15:75086534-75086535	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572060700	chr15:75086542-75086543	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs62006567	chr15:75086545-75086546	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532134011	chr15:75086551-75086552	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs76051315	chr15:75086559-75086560	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs548205825	chr15:75086586-75086587	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs35213055	chr15:75086589-75086590	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs139888670	chr15:75086599-75086600	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs78029260	chr15:75086600-75086601	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75077800-75092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
3	chr15:75080800-75088600	Enhancers	Stomach Mucosa	stomach
4	chr15:75081200-75091400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:75081800-75087600	Enhancers	Brain Substantia Nigra	brain
6	chr15:75081800-75092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:75081800-75092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:75082200-75092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:75082400-75088000	Genic enhancers	Fetal Intestine Small	intestine
10	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
11	chr15:75082600-75088400	Genic enhancers	Fetal Thymus	thymus
12	chr15:75082600-75090400	Weak transcription	HepG2	liver
13	chr15:75082600-75093200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:75082800-75086800	Weak transcription	Brain Germinal Matrix	brain
15	chr15:75083000-75087200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:75083000-75089800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:75083000-75090400	Weak transcription	Dnd41	blood
18	chr15:75083000-75092000	Weak transcription	Hela-S3	cervix
19	chr15:75083000-75093000	Weak transcription	HUVEC	blood vessel
20	chr15:75083200-75086400	Enhancers	NH-A	brain
21	chr15:75083200-75086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:75083200-75090400	Weak transcription	Fetal Brain Female	brain
23	chr15:75083200-75091800	Weak transcription	A549	lung
24	chr15:75083200-75092400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:75083400-75086800	Weak transcription	K562	blood
27	chr15:75083400-75090600	Weak transcription	Fetal Lung	lung
28	chr15:75083800-75086400	Enhancers	Placenta	Placenta
29	chr15:75083800-75087000	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr15:75083800-75087800	Enhancers	Brain Anterior Caudate	brain
31	chr15:75083800-75091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:75084000-75086400	Genic enhancers	Thymus	Thymus
33	chr15:75084000-75087600	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr15:75084200-75086400	Enhancers	Brain Cingulate Gyrus	brain
35	chr15:75084200-75086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:75084200-75087000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:75084200-75087600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:75084200-75087800	Enhancers	Esophagus	oesophagus
39	chr15:75084400-75087400	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr15:75084400-75088000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:75084400-75093200	Genic enhancers	Primary B cells from cord blood	blood
42	chr15:75084400-75094600	Weak transcription	HSMMtube	muscle
43	chr15:75084600-75086400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
44	chr15:75084600-75087600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:75084800-75087000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:75084800-75091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:75085200-75087200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:75085200-75090600	Weak transcription	Psoas Muscle	Psoas
49	chr15:75085200-75091400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:75085400-75086400	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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