Variant report

Variant	esv3377819
Chromosome Location	chr15:56231268-56231816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547530722	chr15:56231268-56231269	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561055564	chr15:56231269-56231270	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529965092	chr15:56231297-56231298	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117718855	chr15:56231304-56231305	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201999631	chr15:56231317-56231318	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112306166	chr15:56231318-56231319	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71110356	chr15:56231328-56231329	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8025909	chr15:56231329-56231330	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570003151	chr15:56231333-56231334	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201495371	chr15:56231334-56231335	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538202413	chr15:56231349-56231350	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138946818	chr15:56231359-56231360	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566859069	chr15:56231387-56231388	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149448142	chr15:56231392-56231393	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528404130	chr15:56231402-56231403	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554280664	chr15:56231418-56231419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530885910	chr15:56231429-56231430	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143883316	chr15:56231475-56231476	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113134364	chr15:56231529-56231530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186235667	chr15:56231530-56231531	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576349854	chr15:56231551-56231552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72734323	chr15:56231562-56231563	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564737802	chr15:56231569-56231570	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148618904	chr15:56231578-56231579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377622838	chr15:56231607-56231608	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570893294	chr15:56231637-56231638	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80088766	chr15:56231641-56231642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560995687	chr15:56231666-56231667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367697468	chr15:56231693-56231694	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533292174	chr15:56231703-56231704	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371829779	chr15:56231706-56231707	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547164577	chr15:56231718-56231719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190560625	chr15:56231787-56231788	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566774337	chr15:56231792-56231793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375721161	chr15:56231793-56231794	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35796495	chr15:56231794-56231795	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371011003	chr15:56231800-56231801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56209600-56247400	Weak transcription	Psoas Muscle	Psoas
2	chr15:56211800-56242400	Weak transcription	Hela-S3	cervix
3	chr15:56221600-56242400	Weak transcription	NHEK	skin
4	chr15:56222200-56234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:56226200-56245800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:56228800-56234600	Weak transcription	Placenta	Placenta
7	chr15:56229000-56231400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:56229400-56234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:56229400-56259000	Weak transcription	Ovary	ovary
10	chr15:56229400-56259400	Weak transcription	Small Intestine	intestine
11	chr15:56229600-56233400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:56229600-56251600	Weak transcription	K562	blood
13	chr15:56229600-56282600	Weak transcription	NHLF	lung
14	chr15:56229800-56233000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr15:56229800-56234000	Weak transcription	HUVEC	blood vessel
16	chr15:56229800-56235200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:56229800-56235400	Weak transcription	Dnd41	blood
18	chr15:56229800-56242600	Weak transcription	Osteobl	bone
19	chr15:56229800-56259000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:56230000-56231400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:56230000-56231600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:56230000-56232000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr15:56230200-56231600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:56230200-56231600	ZNF genes & repeats	Fetal Stomach	stomach
25	chr15:56230200-56237000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:56230400-56231400	Strong transcription	Liver	Liver
27	chr15:56230400-56234000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:56230400-56234000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:56230400-56235600	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:56230400-56242600	Weak transcription	HSMM	muscle
31	chr15:56230600-56231400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:56230600-56231400	Strong transcription	Fetal Lung	lung
33	chr15:56230600-56233800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:56230600-56235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:56230800-56231400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr15:56230800-56231600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:56230800-56231600	Strong transcription	Fetal Intestine Small	intestine
38	chr15:56230800-56242400	Weak transcription	A549	lung
39	chr15:56231000-56232200	Strong transcription	Primary T cells from cord blood	blood
40	chr15:56231000-56234600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:56231000-56244600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr15:56231200-56231400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:56231200-56231600	ZNF genes & repeats	Aorta	Aorta
44	chr15:56231200-56231600	ZNF genes & repeats	Esophagus	oesophagus
45	chr15:56231200-56231600	Strong transcription	Left Ventricle	heart
46	chr15:56231200-56232200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:56231200-56234000	Weak transcription	Fetal Intestine Large	intestine
48	chr15:56231400-56233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:56231400-56234200	Weak transcription	Liver	Liver
50	chr15:56231400-56234400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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