Variant report

Variant	esv16626
Chromosome Location	chr15:93151202-93151902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93138971..93141696-chr15:93151230..93154019,2	MCF-7	breast:
2	chr15:93150012..93154507-chr15:93196255..93200347,4	MCF-7	breast:
3	chr15:93151753..93155694-chr15:93155809..93157941,4	MCF-7	breast:
4	chr15:93145822..93150486-chr15:93150497..93155016,6	K562	blood:

Variant related genes	Relation type
ENSG00000271763	chromatin interactions
ENSG00000260337	chromatin interactions
ENSG00000185442	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563123283	chr15:93151204-93151205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573789331	chr15:93151292-93151293	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs543099805	chr15:93151293-93151294	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559637695	chr15:93151325-93151326	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs192045277	chr15:93151356-93151357	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184667206	chr15:93151358-93151359	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376524246	chr15:93151377-93151378	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562599319	chr15:93151387-93151388	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs374665473	chr15:93151393-93151394	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs369419041	chr15:93151398-93151399	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs190546995	chr15:93151422-93151423	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559686613	chr15:93151442-93151443	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs147648968	chr15:93151473-93151474	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs376343	chr15:93151482-93151483	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs548307351	chr15:93151568-93151569	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs118095114	chr15:93151580-93151581	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs116385246	chr15:93151581-93151582	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534430592	chr15:93151665-93151666	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs557305741	chr15:93151751-93151752	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs554887029	chr15:93151801-93151802	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368913634	chr15:93151802-93151803	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs193148240	chr15:93151826-93151827	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs430087	chr15:93151858-93151859	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs56316215	chr15:93151871-93151872	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs28469326	chr15:93151872-93151873	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542411316	chr15:93151874-93151875	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93128400-93152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93139400-93159800	Weak transcription	Fetal Lung	lung
3	chr15:93142200-93156400	Weak transcription	Lung	lung
4	chr15:93142200-93160400	Weak transcription	Right Atrium	heart
5	chr15:93142400-93152400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:93143600-93160000	Weak transcription	Right Ventricle	heart
7	chr15:93146800-93160000	Weak transcription	Psoas Muscle	Psoas
8	chr15:93147000-93152400	Weak transcription	Esophagus	oesophagus
9	chr15:93149600-93151600	Enhancers	HSMM	muscle
10	chr15:93150000-93153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:93150000-93153200	Weak transcription	Fetal Muscle Leg	muscle
12	chr15:93150000-93153600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:93150000-93155600	Weak transcription	Pancreas	Pancrea
14	chr15:93150000-93160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:93150200-93152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:93150200-93157000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:93150400-93156200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:93150400-93156400	Weak transcription	Fetal Stomach	stomach
19	chr15:93150800-93151600	Enhancers	HSMMtube	muscle
20	chr15:93151200-93151600	Enhancers	Gastric	stomach
21	chr15:93151200-93157200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:93151200-93160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:93151400-93151600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:93151400-93157600	Weak transcription	Fetal Intestine Small	intestine
25	chr15:93151400-93167400	Weak transcription	Brain Germinal Matrix	brain
26	chr15:93151600-93152800	Weak transcription	Gastric	stomach
27	chr15:93151600-93158600	Weak transcription	HSMMtube	muscle
28	chr15:93151600-93159600	Weak transcription	HSMM	muscle
29	chr15:93151600-93178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:93151800-93155600	Weak transcription	Stomach Smooth Muscle	stomach

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