Variant report

Variant	nsv521157
Chromosome Location	chr15:30220424-30229213
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:30040202..30040753-chr15:30227652..30228190,3	MCF-7	breast:
2	chr15:30113575..30115417-chr15:30222883..30226780,3	MCF-7	breast:
3	chr15:30218390..30221170-chr15:30223079..30226019,2	MCF-7	breast:
4	chr15:30111488..30116062-chr15:30215235..30221223,14	MCF-7	breast:
5	chr15:30217904..30219562-chr15:30220854..30222686,2	MCF-7	breast:
6	chr15:30221544..30223860-chr15:30228911..30230419,2	MCF-7	breast:
7	chr15:30221544..30223860-chr15:30228911..30230419,2	MCF-7	breast:
8	chr15:30213326..30217434-chr15:30217608..30221086,3	MCF-7	breast:
9	chr15:30218390..30221170-chr15:30223079..30226019,2	MCF-7	breast:
10	chr15:30113950..30115889-chr15:30221353..30222989,2	MCF-7	breast:
11	chr15:29960061..29960832-chr15:30227692..30229349,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259523	chromatin interactions
ENSG00000104067	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1357386	chr15:30220424-30220425	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546989497	chr15:30220447-30220448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539747773	chr15:30220460-30220461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1357387	chr15:30220473-30220474	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192775481	chr15:30220484-30220485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs117717224	chr15:30220502-30220503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531308903	chr15:30220521-30220522	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544976990	chr15:30220542-30220543	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77567544	chr15:30220552-30220553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1357388	chr15:30220558-30220559	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs5811590	chr15:30220644-30220645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs398099698	chr15:30220646-30220647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547218595	chr15:30220664-30220665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369247612	chr15:30220698-30220699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183579513	chr15:30220708-30220709	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529363553	chr15:30220737-30220738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537916986	chr15:30220791-30220792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549431862	chr15:30220857-30220858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569164802	chr15:30220859-30220860	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538200586	chr15:30220862-30220863	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188020822	chr15:30220865-30220866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571953831	chr15:30220868-30220869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534471280	chr15:30220873-30220874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554438530	chr15:30220874-30220875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554737617	chr15:30220885-30220886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542765795	chr15:30220912-30220913	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs556177265	chr15:30220913-30220914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575956333	chr15:30220920-30220921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs545036274	chr15:30220922-30220923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564705954	chr15:30220923-30220924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527614776	chr15:30220936-30220937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs372755964	chr15:30220942-30220943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560773042	chr15:30220958-30220959	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181268334	chr15:30220962-30220963	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549220837	chr15:30220970-30220971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs569375712	chr15:30220973-30220974	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34866689	chr15:30220989-30220990	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185282832	chr15:30220996-30220997	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190397883	chr15:30221017-30221018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181713394	chr15:30221037-30221038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187580604	chr15:30221038-30221039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145653122	chr15:30221062-30221063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536813075	chr15:30221072-30221073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs556007509	chr15:30221076-30221077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553489894	chr15:30221077-30221078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs577024023	chr15:30221083-30221084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1719357	chr15:30221101-30221102	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs574398566	chr15:30221123-30221124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541416903	chr15:30221124-30221125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538341376	chr15:30221143-30221144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Autism	20841430	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	22420046	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30217400-30229200	Weak transcription	Gastric	stomach
2	chr15:30218200-30226200	Weak transcription	Brain Substantia Nigra	brain
3	chr15:30218200-30227600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:30218200-30236200	Weak transcription	Aorta	Aorta
5	chr15:30218400-30226600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:30218600-30225400	Weak transcription	Brain Angular Gyrus	brain
7	chr15:30218600-30225600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:30218600-30227200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:30218800-30222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:30218800-30222800	Weak transcription	NHEK	skin
11	chr15:30218800-30225400	Weak transcription	HMEC	breast
12	chr15:30219200-30225200	Weak transcription	A549	lung
13	chr15:30222600-30223000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr15:30222800-30223400	Enhancers	NHEK	skin
15	chr15:30223000-30225400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:30223400-30225400	Weak transcription	NHEK	skin
17	chr15:30223800-30225800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr15:30225200-30225400	Enhancers	A549	lung
19	chr15:30225400-30225600	Enhancers	Esophagus	oesophagus
20	chr15:30225400-30225800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr15:30225400-30226200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:30225400-30226400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr15:30225400-30226400	Enhancers	Brain Angular Gyrus	brain
24	chr15:30225400-30226400	Enhancers	Brain Hippocampus Middle	brain
25	chr15:30225400-30226600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:30225400-30227000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:30225400-30227200	Flanking Active TSS	A549	lung
28	chr15:30225400-30229200	Enhancers	Brain Cingulate Gyrus	brain
29	chr15:30225400-30230000	Enhancers	NHEK	skin
30	chr15:30225400-30231800	Enhancers	HMEC	breast
31	chr15:30225400-30232000	Enhancers	Hela-S3	cervix
32	chr15:30225600-30228000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:30225600-30230400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:30225600-30231000	Weak transcription	Esophagus	oesophagus
35	chr15:30225600-30231800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:30225800-30226000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:30225800-30226000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr15:30225800-30227000	Enhancers	Stomach Mucosa	stomach
39	chr15:30225800-30227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:30225800-30228200	Enhancers	HUVEC	blood vessel
41	chr15:30225800-30229200	Enhancers	NHLF	lung
42	chr15:30225800-30232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:30226000-30226400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:30226000-30227400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:30226000-30227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:30226000-30227800	Enhancers	HSMM	muscle
47	chr15:30226000-30228000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr15:30226200-30227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:30226200-30227200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:30226200-30227600	Enhancers	Osteobl	bone

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