Variant report

Variant	esv3358088
Chromosome Location	chr15:45888560-45892758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45878917..45881326-chr15:45889883..45891548,2	K562	blood:
2	chr15:45879487..45881858-chr15:45891954..45893662,2	K562	blood:
3	chr15:45884544..45886810-chr15:45890101..45892721,2	K562	blood:
4	chr15:45889847..45891532-chr15:45893920..45896007,2	K562	blood:
5	chr15:45887440..45889797-chr15:45894911..45896652,2	K562	blood:
6	chr15:45877258..45879705-chr15:45888357..45891193,3	MCF-7	breast:
7	chr15:45880183..45881884-chr15:45892162..45895627,3	K562	blood:

Variant related genes	Relation type
ENSG00000104164	chromatin interactions
ENSG00000260170	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141413776	chr15:45888599-45888600	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530015941	chr15:45888624-45888625	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546987855	chr15:45888636-45888637	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184751121	chr15:45888645-45888646	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373923391	chr15:45888712-45888713	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532464989	chr15:45888752-45888753	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189215482	chr15:45888760-45888761	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568751458	chr15:45888800-45888801	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117404657	chr15:45888810-45888811	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550257178	chr15:45888887-45888888	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs554194473	chr15:45888939-45888940	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571028084	chr15:45888942-45888943	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs568167716	chr15:45888954-45888955	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150381458	chr15:45888957-45888958	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553762059	chr15:45888997-45888998	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113887184	chr15:45889006-45889007	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144873347	chr15:45889020-45889021	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374204368	chr15:45889049-45889050	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7496542	chr15:45889124-45889125	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34547356	chr15:45889126-45889127	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs180689729	chr15:45889150-45889151	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544842530	chr15:45889232-45889233	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539006704	chr15:45889235-45889236	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561332375	chr15:45889274-45889275	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530248578	chr15:45889289-45889290	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149035529	chr15:45889294-45889295	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560579918	chr15:45889308-45889309	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs532294819	chr15:45889376-45889377	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367770484	chr15:45889408-45889409	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554223788	chr15:45889409-45889410	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115024501	chr15:45889411-45889412	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531371565	chr15:45889451-45889452	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547995453	chr15:45889452-45889453	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566107833	chr15:45889456-45889457	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536949835	chr15:45889459-45889460	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371089470	chr15:45889560-45889561	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555006004	chr15:45889581-45889582	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576540405	chr15:45889582-45889583	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568044635	chr15:45889618-45889619	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533938018	chr15:45889619-45889620	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs72713180	chr15:45889628-45889629	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143054426	chr15:45889706-45889707	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs539447119	chr15:45889752-45889753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559266149	chr15:45889793-45889794	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576023618	chr15:45889824-45889825	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs185311082	chr15:45889932-45889933	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs377592002	chr15:45889942-45889943	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138588382	chr15:45889958-45889959	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs191204991	chr15:45890004-45890005	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs141680916	chr15:45890027-45890028	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45880400-45900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:45881000-45888600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:45881000-45900200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:45881000-45908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:45881000-45908800	Weak transcription	Esophagus	oesophagus
6	chr15:45881200-45889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:45881200-45890200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:45881200-45895800	Weak transcription	Spleen	Spleen
9	chr15:45881200-45898000	Weak transcription	Pancreas	Pancrea
10	chr15:45881200-45899800	Weak transcription	Small Intestine	intestine
11	chr15:45881200-45900200	Weak transcription	Colonic Mucosa	Colon
12	chr15:45881200-45900200	Weak transcription	Gastric	stomach
13	chr15:45881200-45909000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:45881400-45898200	Weak transcription	HSMMtube	muscle
15	chr15:45881600-45901800	Weak transcription	Psoas Muscle	Psoas
16	chr15:45881800-45889000	Weak transcription	A549	lung
17	chr15:45881800-45891800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:45881800-45896400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:45881800-45896800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:45881800-45898000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:45881800-45898200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:45881800-45903400	Weak transcription	Brain Substantia Nigra	brain
23	chr15:45881800-45904800	Weak transcription	NHEK	skin
24	chr15:45882000-45889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:45882000-45908600	Weak transcription	NHLF	lung
26	chr15:45882200-45898200	Weak transcription	HSMM	muscle
27	chr15:45883000-45898600	Weak transcription	NHDF-Ad	bronchial
28	chr15:45883000-45899000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:45883400-45898000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:45884000-45888600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:45884000-45890200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:45884000-45896400	Weak transcription	Brain Angular Gyrus	brain
33	chr15:45884000-45898600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:45884400-45888600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:45884400-45889400	Strong transcription	Brain Hippocampus Middle	brain
36	chr15:45884400-45889600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:45884400-45889800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr15:45884400-45889800	Strong transcription	Primary B cells from cord blood	blood
39	chr15:45884400-45889800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:45884400-45889800	Strong transcription	Dnd41	blood
41	chr15:45884400-45890000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:45884400-45890200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:45884400-45890200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:45884400-45901200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr15:45884600-45890000	Strong transcription	Fetal Lung	lung
46	chr15:45884600-45890000	Strong transcription	Placenta	Placenta
47	chr15:45884600-45890200	Strong transcription	Liver	Liver
48	chr15:45884600-45900800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:45884800-45890000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:45884800-45890000	Strong transcription	Primary hematopoietic stem cells	blood

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