Variant report

Variant	nsv904359
Chromosome Location	chr15:74709071-74712937
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74712355..74714244-chr15:74719225..74721195,3	K562	blood:
2	chr15:74712461..74714565-chr15:74744762..74746348,2	MCF-7	breast:
3	chr15:74689719..74694435-chr15:74706184..74713253,9	MCF-7	breast:
4	chr15:74710571..74713498-chr15:74715208..74717540,3	K562	blood:
5	chr15:74710597..74712982-chr15:75051460..75053643,2	K562	blood:
6	chr15:74712692..74714612-chr15:74714775..74716965,2	MCF-7	breast:
7	chr15:74708430..74711665-chr15:74722964..74726115,3	K562	blood:
8	chr15:74709055..74711069-chr15:74716225..74718265,2	MCF-7	breast:
9	chr15:74703939..74707088-chr15:74707597..74710860,4	K562	blood:
10	chr15:74709534..74711192-chr15:74725861..74727762,2	MCF-7	breast:
11	chr15:74683786..74686291-chr15:74709517..74711848,2	K562	blood:
12	chr15:74708765..74710665-chr15:74717275..74720280,3	K562	blood:
13	chr15:74692322..74695920-chr15:74711238..74714934,4	K562	blood:
14	chr15:74711559..74715833-chr15:74724252..74727151,6	K562	blood:
15	chr15:74711706..74714244-chr15:74719320..74721195,2	K562	blood:
16	chr15:74708483..74711346-chr15:74713083..74715062,3	MCF-7	breast:
17	chr15:74698938..74701316-chr15:74711313..74715118,3	MCF-7	breast:
18	chr15:74674587..74678748-chr15:74711681..74714409,4	K562	blood:
19	chr15:74709821..74711608-chr15:74905554..74908094,2	MCF-7	breast:
20	chr15:74680306..74681854-chr15:74712615..74715350,2	MCF-7	breast:
21	chr15:74706143..74707711-chr15:74709343..74712295,2	K562	blood:
22	chr15:74693785..74695419-chr15:74712435..74714990,2	MCF-7	breast:
23	chr15:74675641..74677310-chr15:74711681..74714409,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260919	chromatin interactions
ENSG00000138623	chromatin interactions
ENSG00000179335	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28362918	chr15:74709071-74709072	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563989584	chr15:74709072-74709073	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55774452	chr15:74709073-74709074	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2734629	chr15:74709075-74709076	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373620148	chr15:74709080-74709081	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377045764	chr15:74709081-74709082	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564106515	chr15:74709083-74709084	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370244133	chr15:74709091-74709092	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201700921	chr15:74709101-74709102	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370149079	chr15:74709102-74709103	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186883679	chr15:74709108-74709109	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2577117	chr15:74709112-74709113	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149618738	chr15:74709133-74709134	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528568691	chr15:74709152-74709153	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2577118	chr15:74709186-74709187	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540302145	chr15:74709192-74709193	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191682710	chr15:74709206-74709207	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533177680	chr15:74709214-74709215	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545405901	chr15:74709256-74709257	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2577119	chr15:74709304-74709305	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569921917	chr15:74709321-74709322	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111535275	chr15:74709362-74709363	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372599933	chr15:74709378-74709379	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28362917	chr15:74709405-74709406	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560624828	chr15:74709439-74709440	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555770655	chr15:74709441-74709442	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570432278	chr15:74709444-74709445	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140907373	chr15:74709453-74709454	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534720940	chr15:74709507-74709508	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183141493	chr15:74709538-74709539	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113015025	chr15:74709564-74709565	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2075590	chr15:74709566-74709567	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141022389	chr15:74709578-74709579	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575906027	chr15:74709586-74709587	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375280463	chr15:74709627-74709628	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28362916	chr15:74709637-74709638	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371085607	chr15:74709646-74709647	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375110689	chr15:74709648-74709649	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372855564	chr15:74709661-74709662	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554229203	chr15:74709683-74709684	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375749674	chr15:74709704-74709705	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369347333	chr15:74709713-74709714	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55637216	chr15:74709717-74709718	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs56367230	chr15:74709718-74709719	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375039329	chr15:74709719-74709720	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143114662	chr15:74709724-74709725	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572867366	chr15:74709781-74709782	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200802256	chr15:74709782-74709783	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561843703	chr15:74709791-74709792	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188028857	chr15:74709796-74709797	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
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	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Breast cancer	21364760	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74696200-74710400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74696200-74711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:74696200-74712600	Weak transcription	Right Atrium	heart
4	chr15:74696400-74712200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:74696800-74709400	Weak transcription	Left Ventricle	heart
6	chr15:74697000-74712400	Weak transcription	Fetal Heart	heart
7	chr15:74697000-74712600	Weak transcription	Fetal Lung	lung
8	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
9	chr15:74700000-74713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:74700200-74711200	Weak transcription	Fetal Intestine Large	intestine
11	chr15:74700400-74710800	Weak transcription	Ovary	ovary
12	chr15:74700600-74712200	Weak transcription	Fetal Brain Male	brain
13	chr15:74700800-74712400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:74701200-74714600	Genic enhancers	Spleen	Spleen
15	chr15:74701400-74712600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:74701600-74709200	Strong transcription	NHLF	lung
17	chr15:74701600-74709600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:74702000-74710800	Strong transcription	Brain Germinal Matrix	brain
19	chr15:74702000-74712400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:74702200-74710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:74702200-74710800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr15:74702200-74715000	Weak transcription	Colonic Mucosa	Colon
23	chr15:74702400-74709200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:74702400-74710400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:74702400-74711000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:74702400-74711200	Strong transcription	Fetal Stomach	stomach
27	chr15:74702600-74710400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:74702600-74711000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:74702600-74712200	Strong transcription	NHEK	skin
30	chr15:74702800-74709200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:74702800-74709600	Weak transcription	Adipose Nuclei	Adipose
32	chr15:74702800-74712200	Weak transcription	Pancreas	Pancrea
33	chr15:74703000-74710800	Strong transcription	HepG2	liver
34	chr15:74703200-74712600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:74703200-74713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:74703800-74713000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:74704400-74710800	Strong transcription	K562	blood
38	chr15:74704600-74711200	Weak transcription	Liver	Liver
39	chr15:74705200-74712800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:74705400-74710400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:74705800-74709400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:74705800-74711200	Strong transcription	Fetal Brain Female	brain
43	chr15:74705800-74711400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:74706200-74710600	Strong transcription	Gastric	stomach
45	chr15:74706200-74713600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:74706400-74711800	Genic enhancers	NH-A	brain
47	chr15:74706400-74714600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:74706600-74709600	Genic enhancers	Osteobl	bone
49	chr15:74706600-74710400	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr15:74706800-74709200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood

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