Variant report

Variant	esv2561717
Chromosome Location	chr15:58912293-58913920
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	CEBPB	chr15:58912637-58912708	A549	lung:	n/a	chr15:58912684-58912695
2	FOXA1	chr15:58912574-58912800	T-47D	breast:	n/a	n/a
3	FOXA1	chr15:58913651-58913836	T-47D	breast:	n/a	n/a
4	FOXA1	chr15:58912570-58912819	HepG2	liver:	n/a	n/a
5	FOXA1	chr15:58912565-58912754	T-47D	breast:	n/a	n/a
6	GATA3	chr15:58913575-58913820	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ADAM10	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6494028	chr15:58912312-58912313	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187009451	chr15:58912314-58912315	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547723721	chr15:58912335-58912336	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567518245	chr15:58912359-58912360	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190225120	chr15:58912364-58912365	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182844495	chr15:58912374-58912375	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187437050	chr15:58912392-58912393	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565440578	chr15:58912393-58912394	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569737953	chr15:58912430-58912431	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538390038	chr15:58912434-58912435	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371063002	chr15:58912435-58912436	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534280031	chr15:58912444-58912445	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558228332	chr15:58912479-58912480	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571712571	chr15:58912484-58912485	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12908449	chr15:58912581-58912582	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554189501	chr15:58912584-58912585	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12592302	chr15:58912586-58912587	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs193205250	chr15:58912593-58912594	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28367499	chr15:58912639-58912640	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149657884	chr15:58912642-58912643	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185584232	chr15:58912658-58912659	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563137002	chr15:58912671-58912672	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374024114	chr15:58912725-58912726	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12594872	chr15:58912749-58912750	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545519776	chr15:58912770-58912771	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529756971	chr15:58912785-58912786	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28465035	chr15:58912835-58912836	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570842513	chr15:58912859-58912860	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201250923	chr15:58912866-58912867	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199708774	chr15:58912867-58912868	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200533862	chr15:58912868-58912869	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201468047	chr15:58912869-58912870	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201349845	chr15:58912872-58912873	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545979590	chr15:58912937-58912938	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559842077	chr15:58913028-58913029	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527703177	chr15:58913163-58913164	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547742679	chr15:58913164-58913165	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561104233	chr15:58913165-58913166	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530040291	chr15:58913166-58913167	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549801120	chr15:58913230-58913231	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28678478	chr15:58913262-58913263	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538402243	chr15:58913263-58913264	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551868387	chr15:58913264-58913265	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565407548	chr15:58913279-58913280	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376705786	chr15:58913282-58913283	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140264452	chr15:58913302-58913303	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542238028	chr15:58913319-58913320	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368755595	chr15:58913322-58913323	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574340631	chr15:58913340-58913341	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536999225	chr15:58913379-58913380	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58880600-58920600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:58888400-58920000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:58889600-58919800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:58889800-58918800	Weak transcription	Osteobl	bone
5	chr15:58889800-58921000	Weak transcription	Ovary	ovary
6	chr15:58891400-58959600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr15:58899200-58920200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr15:58901400-58918800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:58901600-58913400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:58903200-58913400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:58903400-58918600	Weak transcription	HUVEC	blood vessel
12	chr15:58903800-58914200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:58904800-58913600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:58905000-58920800	Weak transcription	Left Ventricle	heart
15	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
16	chr15:58905400-58919000	Weak transcription	NHEK	skin
17	chr15:58905400-58919600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
19	chr15:58905600-58919800	Weak transcription	Stomach Mucosa	stomach
20	chr15:58905600-58976400	Weak transcription	Gastric	stomach
21	chr15:58906000-58914000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:58906400-58915200	Weak transcription	HSMMtube	muscle
23	chr15:58906400-58920000	Weak transcription	Colonic Mucosa	Colon
24	chr15:58906400-58923000	Weak transcription	Pancreas	Pancrea
25	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
26	chr15:58907000-58913600	Weak transcription	Fetal Kidney	kidney
27	chr15:58907000-58918800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:58907200-58913200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:58907200-58913200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:58907200-58913600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:58907200-58913600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr15:58907200-58913600	Weak transcription	K562	blood
33	chr15:58907200-58913800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:58907200-58914800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:58907200-58914800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr15:58907200-58915000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:58907200-58918800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:58907200-58918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:58907200-58919200	Weak transcription	HepG2	liver
40	chr15:58907200-58919200	Weak transcription	NHLF	lung
41	chr15:58907200-58919400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:58907200-58919400	Weak transcription	Colon Smooth Muscle	Colon
43	chr15:58907200-58920000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:58907200-58920600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:58907200-58920800	Weak transcription	NH-A	brain
46	chr15:58907400-58916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:58907400-58920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:58907800-58913000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:58907800-58914200	Strong transcription	Primary B cells from cord blood	blood
50	chr15:58907800-58952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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