Variant report

Variant	esv3386315
Chromosome Location	chr15:49405660-49407658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49398258..49401295-chr15:49402930..49405917,3	K562	blood:
2	chr1:11968134..11969093-chr15:49407042..49407542,2	Hela-S3	cervix:
3	chr15:49404329..49407457-chr15:49414444..49416690,3	K562	blood:

Variant related genes	Relation type
ENSG00000199347	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550607012	chr15:49405677-49405678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182219649	chr15:49405683-49405684	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568789668	chr15:49405726-49405727	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539061375	chr15:49405749-49405750	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138720782	chr15:49405764-49405765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562703183	chr15:49405845-49405846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573443139	chr15:49405853-49405854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534151486	chr15:49405860-49405861	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149625428	chr15:49405915-49405916	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551633011	chr15:49405916-49405917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544251647	chr15:49405955-49405956	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144330476	chr15:49405963-49405964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75511718	chr15:49405973-49405974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578000182	chr15:49405975-49405976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368489478	chr15:49406061-49406062	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374539643	chr15:49406068-49406069	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545055737	chr15:49406120-49406121	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12442679	chr15:49406129-49406130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72727208	chr15:49406130-49406131	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374778907	chr15:49406154-49406155	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12439497	chr15:49406214-49406215	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371640835	chr15:49406218-49406219	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541582899	chr15:49406254-49406255	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56910186	chr15:49406290-49406291	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374375977	chr15:49406299-49406300	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368555639	chr15:49406300-49406301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529003791	chr15:49406315-49406316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567592037	chr15:49406334-49406335	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35878835	chr15:49406364-49406365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550698722	chr15:49406367-49406368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71120664	chr15:49406403-49406404	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369566562	chr15:49406404-49406405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113219454	chr15:49406419-49406420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60704709	chr15:49406421-49406422	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568851254	chr15:49406442-49406443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55645655	chr15:49406471-49406472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373090422	chr15:49406472-49406473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57967898	chr15:49406507-49406508	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71394952	chr15:49406521-49406522	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28812192	chr15:49406523-49406524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28889021	chr15:49406525-49406526	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56159116	chr15:49406527-49406528	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71394953	chr15:49406529-49406530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71394954	chr15:49406531-49406532	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71120665	chr15:49406547-49406548	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184807000	chr15:49406554-49406555	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56980403	chr15:49406564-49406565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71120666	chr15:49406565-49406566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199539541	chr15:49406603-49406604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71394955	chr15:49406615-49406616	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Aromatase excess syndrome	21470988	CNVD
CYP19A1	0	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49388800-49418800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:49388800-49434800	Weak transcription	Small Intestine	intestine
3	chr15:49393600-49413200	Weak transcription	HMEC	breast
4	chr15:49395400-49419000	Weak transcription	Fetal Kidney	kidney
5	chr15:49395600-49426400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:49396000-49419600	Weak transcription	NHEK	skin
7	chr15:49396400-49418800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:49398600-49427600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:49399200-49414600	Weak transcription	HUVEC	blood vessel
10	chr15:49402400-49406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:49402800-49406200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:49402800-49406200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr15:49402800-49407600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:49403000-49417200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:49403000-49434600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:49403200-49408200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:49403200-49413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:49403200-49423400	Weak transcription	Psoas Muscle	Psoas
19	chr15:49403400-49406200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:49403400-49406400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:49403400-49419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr15:49403400-49440200	Weak transcription	Pancreas	Pancrea
23	chr15:49403600-49406200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:49403600-49411200	Weak transcription	Fetal Intestine Small	intestine
25	chr15:49403600-49423600	Weak transcription	Esophagus	oesophagus
26	chr15:49403600-49432200	Weak transcription	Fetal Stomach	stomach
27	chr15:49403600-49435200	Weak transcription	Aorta	Aorta
28	chr15:49403600-49435200	Weak transcription	Gastric	stomach
29	chr15:49403600-49435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:49403800-49417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr15:49403800-49419400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr15:49403800-49433200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:49404000-49405800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:49404000-49406200	ZNF genes & repeats	GM12878-XiMat	blood
35	chr15:49404000-49419800	Weak transcription	NHLF	lung
36	chr15:49404400-49405800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr15:49404400-49419800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr15:49404600-49424000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr15:49404800-49405800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:49404800-49406000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:49404800-49406400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:49404800-49407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:49404800-49407000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:49404800-49407000	Weak transcription	Brain Substantia Nigra	brain
45	chr15:49404800-49415400	Weak transcription	Hela-S3	cervix
46	chr15:49404800-49417200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:49404800-49417600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr15:49404800-49419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:49404800-49419000	Weak transcription	Primary T cells from cord blood	blood
50	chr15:49404800-49419000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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