Variant report

Variant	esv3361699
Chromosome Location	chr15:56173709-56192307
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56189708..56191637-chr15:56192609..56194993,2	K562	blood:
2	chr15:56186114..56188918-chr15:56190868..56192433,2	MCF-7	breast:
3	chr15:56189898..56190539-chr15:56209877..56210406,2	MCF-7	breast:
4	chr15:56034445..56037110-chr15:56186811..56188699,2	MCF-7	breast:
5	chr15:56190390..56193219-chr15:56284965..56287438,2	MCF-7	breast:
6	chr15:55940251..55940793-chr15:56189676..56190326,2	K562	blood:
7	chr15:55940286..55941226-chr15:56189659..56190472,2	MCF-7	breast:
8	chr15:56189708..56191734-chr15:56192609..56195384,4	K562	blood:
9	chr15:56189431..56191033-chr15:56283600..56285774,2	MCF-7	breast:
10	chr15:56186114..56188918-chr15:56190868..56192433,2	MCF-7	breast:
11	chr15:56189903..56190536-chr15:56538041..56538735,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166450	chromatin interactions
ENSG00000069869	chromatin interactions

Extended variants
information (count: 581 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536071553	chr15:56173766-56173767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563118966	chr15:56173825-56173826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34560098	chr15:56173876-56173877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569617115	chr15:56173891-56173892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538595315	chr15:56173916-56173917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557720707	chr15:56173944-56173945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554246975	chr15:56173959-56173960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111900201	chr15:56173986-56173987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77199034	chr15:56174000-56174001	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182041216	chr15:56174025-56174026	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533730224	chr15:56174036-56174037	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62043798	chr15:56174043-56174044	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574138909	chr15:56174092-56174093	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367947745	chr15:56174098-56174099	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563124195	chr15:56174121-56174122	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11637342	chr15:56174132-56174133	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545748287	chr15:56174143-56174144	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564874433	chr15:56174166-56174167	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190730721	chr15:56174183-56174184	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547432907	chr15:56174253-56174254	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148285418	chr15:56174254-56174255	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530565284	chr15:56174264-56174265	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183305499	chr15:56174341-56174342	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115310979	chr15:56174382-56174383	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371443400	chr15:56174402-56174403	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569555449	chr15:56174405-56174406	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112740777	chr15:56174481-56174482	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186601014	chr15:56174499-56174500	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190997135	chr15:56174502-56174503	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571584041	chr15:56174509-56174510	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533951533	chr15:56174510-56174511	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147461380	chr15:56174548-56174549	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368539991	chr15:56174556-56174557	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs114502110	chr15:56174569-56174570	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183266135	chr15:56174635-56174636	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556783309	chr15:56174636-56174637	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139947511	chr15:56174657-56174658	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372592968	chr15:56174672-56174673	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145426537	chr15:56174687-56174688	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202084343	chr15:56174756-56174757	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74704538	chr15:56174759-56174760	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565452650	chr15:56174767-56174768	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377222326	chr15:56174820-56174821	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7179116	chr15:56174827-56174828	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs558388010	chr15:56174834-56174835	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373824433	chr15:56174863-56174864	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572008946	chr15:56174868-56174869	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187741635	chr15:56174873-56174874	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147281311	chr15:56174896-56174897	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140909650	chr15:56174899-56174900	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56148200-56174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56149000-56177600	Weak transcription	Spleen	Spleen
3	chr15:56152800-56174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:56153000-56174000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:56153000-56174400	Weak transcription	HSMMtube	muscle
6	chr15:56153000-56174800	Weak transcription	Fetal Intestine Small	intestine
7	chr15:56153000-56176400	Weak transcription	Esophagus	oesophagus
8	chr15:56153600-56178600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:56155400-56174800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:56155400-56175600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:56158200-56176400	Weak transcription	Left Ventricle	heart
12	chr15:56161200-56174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:56161200-56179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:56161400-56174400	Weak transcription	NHEK	skin
15	chr15:56161400-56174600	Weak transcription	Primary T cells from cord blood	blood
16	chr15:56161400-56177400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr15:56161800-56174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:56163400-56174600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:56163600-56174400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:56165200-56174200	Weak transcription	Liver	Liver
21	chr15:56165200-56174200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:56165600-56174800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:56166000-56174400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:56166000-56185400	Weak transcription	Hela-S3	cervix
25	chr15:56167800-56176200	Weak transcription	Psoas Muscle	Psoas
26	chr15:56170200-56174400	Weak transcription	HSMM	muscle
27	chr15:56171400-56174400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:56171400-56177600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:56171600-56174600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:56171600-56175600	Weak transcription	Aorta	Aorta
31	chr15:56171800-56174000	Enhancers	A549	lung
32	chr15:56171800-56176400	Weak transcription	HUVEC	blood vessel
33	chr15:56172000-56177200	Weak transcription	Fetal Stomach	stomach
34	chr15:56172000-56177600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:56172000-56186200	Weak transcription	Osteobl	bone
36	chr15:56172200-56174600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:56172800-56176400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:56172800-56176800	Weak transcription	Pancreas	Pancrea
39	chr15:56172800-56189600	Weak transcription	Placenta	Placenta
40	chr15:56173200-56175600	Weak transcription	Right Ventricle	heart
41	chr15:56173400-56174800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:56174000-56174400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:56174000-56174600	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:56174000-56175600	Genic enhancers	A549	lung
45	chr15:56174200-56174600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:56174200-56175000	Strong transcription	Liver	Liver
47	chr15:56174200-56177400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr15:56174400-56174800	ZNF genes & repeats	Lung	lung
49	chr15:56174400-56175000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:56174400-56175000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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