Variant report

Variant	esv3507160
Chromosome Location	chr15:34456709-34485891
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34464003..34466494-chr15:34466732..34469495,2	K562	blood:
2	chr15:34469294..34472119-chr15:34650020..34652509,2	K562	blood:
3	chr15:34477710..34479818-chr15:34502145..34504954,2	K562	blood:
4	chr15:34479489..34481892-chr15:34492383..34494065,2	K562	blood:
5	chr15:34392630..34395224-chr15:34479960..34481957,2	K562	blood:
6	chr15:34474173..34475997-chr15:34500138..34502124,2	MCF-7	breast:
7	chr15:34483269..34484902-chr15:34500423..34502313,2	K562	blood:
8	chr15:34464003..34466494-chr15:34466732..34469495,2	K562	blood:
9	chr15:34471045..34472710-chr15:34500105..34502660,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182405	chromatin interactions
ENSG00000134152	chromatin interactions
ENSG00000134153	chromatin interactions

Extended variants
information (count: 1279 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1279 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201006433	chr15:34456721-34456722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs397743877	chr15:34456733-34456734	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200048288	chr15:34456734-34456735	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555011308	chr15:34456762-34456763	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573386482	chr15:34456808-34456809	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534448910	chr15:34456917-34456918	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553529541	chr15:34456929-34456930	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376539433	chr15:34456963-34456964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578140700	chr15:34457005-34457006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76203390	chr15:34457054-34457055	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563978143	chr15:34457082-34457083	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575683849	chr15:34457107-34457108	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370717287	chr15:34457122-34457123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545323884	chr15:34457158-34457159	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183020623	chr15:34457189-34457190	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561297767	chr15:34457190-34457191	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28697072	chr15:34457200-34457201	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11636442	chr15:34457239-34457240	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs192609582	chr15:34457266-34457267	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532989526	chr15:34457283-34457284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74900663	chr15:34457323-34457324	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569635689	chr15:34457371-34457372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7161944	chr15:34457382-34457383	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143121663	chr15:34457383-34457384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138350604	chr15:34457395-34457396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149565631	chr15:34457402-34457403	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534708164	chr15:34457425-34457426	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143221011	chr15:34457455-34457456	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578090488	chr15:34457460-34457461	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148066809	chr15:34457475-34457476	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141804105	chr15:34457498-34457499	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112152461	chr15:34457518-34457519	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74417553	chr15:34457529-34457530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575989679	chr15:34457564-34457565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187576408	chr15:34457589-34457590	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7166993	chr15:34457591-34457592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561261074	chr15:34457603-34457604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573196631	chr15:34457619-34457620	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563264768	chr15:34457640-34457641	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557371694	chr15:34457658-34457659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368602489	chr15:34457660-34457661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191998413	chr15:34457677-34457678	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146026793	chr15:34457682-34457683	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184784005	chr15:34457693-34457694	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551145782	chr15:34457718-34457719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190034152	chr15:34457721-34457722	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373588280	chr15:34457722-34457723	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530713157	chr15:34457772-34457773	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548907502	chr15:34457800-34457801	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139942291	chr15:34457838-34457839	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34429800-34456800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:34445400-34459600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:34445800-34459400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr15:34452000-34457800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr15:34453600-34461000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:34453600-34474600	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:34453800-34458400	Weak transcription	Psoas Muscle	Psoas
8	chr15:34454000-34457000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:34454000-34458200	Weak transcription	Right Ventricle	heart
10	chr15:34454000-34458400	Weak transcription	NH-A	brain
11	chr15:34454000-34477400	Weak transcription	HSMM	muscle
12	chr15:34454200-34458000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:34454200-34497800	Weak transcription	Osteobl	bone
14	chr15:34454600-34501200	Weak transcription	Colonic Mucosa	Colon
15	chr15:34454800-34465600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:34454800-34501000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:34455000-34456800	Weak transcription	Adipose Nuclei	Adipose
18	chr15:34455000-34456800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:34455000-34457400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:34455000-34458200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:34455000-34458200	Weak transcription	Esophagus	oesophagus
22	chr15:34455000-34458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:34455000-34458400	Weak transcription	Liver	Liver
24	chr15:34455000-34458400	Weak transcription	Left Ventricle	heart
25	chr15:34455000-34458400	Weak transcription	HepG2	liver
26	chr15:34455000-34458800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:34455000-34459600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr15:34455000-34460600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:34455000-34460800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:34455000-34461400	Weak transcription	Primary T cells from cord blood	blood
31	chr15:34455000-34463400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:34455200-34456800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:34455200-34456800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:34455200-34457000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:34455200-34457000	Weak transcription	Brain Substantia Nigra	brain
36	chr15:34455200-34457200	Weak transcription	Primary B cells from cord blood	blood
37	chr15:34455200-34457800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:34455200-34458000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:34455200-34458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:34455200-34458200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:34455200-34458200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:34455200-34458200	Weak transcription	Aorta	Aorta
43	chr15:34455200-34458200	Weak transcription	Placenta	Placenta
44	chr15:34455200-34458200	Weak transcription	Fetal Stomach	stomach
45	chr15:34455200-34458200	Weak transcription	Gastric	stomach
46	chr15:34455200-34458400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:34455200-34458400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:34455200-34458400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:34455200-34458400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:34455200-34458400	Weak transcription	Fetal Muscle Trunk	muscle

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