Variant report

Variant	nsv569980
Chromosome Location	chr15:74709566-74711631
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74709534..74711192-chr15:74725861..74727762,2	MCF-7	breast:
2	chr15:74703939..74707088-chr15:74707597..74710860,4	K562	blood:
3	chr15:74708765..74710665-chr15:74717275..74720280,3	K562	blood:
4	chr15:74708430..74711665-chr15:74722964..74726115,3	K562	blood:
5	chr15:74710597..74712982-chr15:75051460..75053643,2	K562	blood:
6	chr15:74706143..74707711-chr15:74709343..74712295,2	K562	blood:
7	chr15:74709055..74711069-chr15:74716225..74718265,2	MCF-7	breast:
8	chr15:74710571..74713498-chr15:74715208..74717540,3	K562	blood:
9	chr15:74689719..74694435-chr15:74706184..74713253,9	MCF-7	breast:
10	chr15:74683786..74686291-chr15:74709517..74711848,2	K562	blood:
11	chr15:74708483..74711346-chr15:74713083..74715062,3	MCF-7	breast:
12	chr15:74709821..74711608-chr15:74905554..74908094,2	MCF-7	breast:
13	chr15:74711559..74715833-chr15:74724252..74727151,6	K562	blood:
14	chr15:74698938..74701316-chr15:74711313..74715118,3	MCF-7	breast:
15	chr15:74692322..74695920-chr15:74711238..74714934,4	K562	blood:

No data

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

Extended variants
information (count: 127 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	rs376552865	chr15:74709798-74709799	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	rs191248790	chr15:74709843-74709844	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs182278016	chr15:74709848-74709849	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs2734628	chr15:74709891-74709892	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2734627	chr15:74709899-74709900	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs186938241	chr15:74709909-74709910	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs530853848	chr15:74709910-74709911	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs551718597	chr15:74709926-74709927	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs151192042	chr15:74709957-74709958	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs140327601	chr15:74709961-74709962	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs528068487	chr15:74709970-74709971	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs2075589	chr15:74709975-74709976	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138109375	chr15:74709989-74709990	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs142309393	chr15:74709990-74709991	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs373950889	chr15:74710001-74710002	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs370457755	chr15:74710051-74710052	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs148587534	chr15:74710056-74710057	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs535164102	chr15:74710122-74710123	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs28362915	chr15:74710125-74710126	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34432520	chr15:74710126-74710127	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs569326273	chr15:74710149-74710150	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs553530865	chr15:74710153-74710154	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs558015385	chr15:74710158-74710159	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs202174103	chr15:74710170-74710171	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377593968	chr15:74710171-74710172	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373889584	chr15:74710198-74710199	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs200895370	chr15:74710241-74710242	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368613221	chr15:74710242-74710243	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs200205962	chr15:74710245-74710246	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs371343346	chr15:74710304-74710305	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs28362914	chr15:74710305-74710306	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:196 , 50 per page) page: 1 2 3 4

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	chr15:74697000-74712400	Weak transcription	Fetal Heart	heart
6	chr15:74697000-74712600	Weak transcription	Fetal Lung	lung
7	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
8	chr15:74700000-74713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:74700200-74711200	Weak transcription	Fetal Intestine Large	intestine
10	chr15:74700400-74710800	Weak transcription	Ovary	ovary
11	chr15:74700600-74712200	Weak transcription	Fetal Brain Male	brain
12	chr15:74700800-74712400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:74701200-74714600	Genic enhancers	Spleen	Spleen
14	chr15:74701400-74712600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:74701600-74709600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:74702000-74710800	Strong transcription	Brain Germinal Matrix	brain
17	chr15:74702000-74712400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:74702200-74710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:74702200-74710800	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr15:74702200-74715000	Weak transcription	Colonic Mucosa	Colon
21	chr15:74702400-74710400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:74702400-74711000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:74702400-74711200	Strong transcription	Fetal Stomach	stomach
24	chr15:74702600-74710400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:74702600-74711000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:74702600-74712200	Strong transcription	NHEK	skin
27	chr15:74702800-74709600	Weak transcription	Adipose Nuclei	Adipose
28	chr15:74702800-74712200	Weak transcription	Pancreas	Pancrea
29	chr15:74703000-74710800	Strong transcription	HepG2	liver
30	chr15:74703200-74712600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:74703200-74713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:74703800-74713000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:74704400-74710800	Strong transcription	K562	blood
34	chr15:74704600-74711200	Weak transcription	Liver	Liver
35	chr15:74705200-74712800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:74705400-74710400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:74705800-74711200	Strong transcription	Fetal Brain Female	brain
38	chr15:74705800-74711400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:74706200-74710600	Strong transcription	Gastric	stomach
40	chr15:74706200-74713600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:74706400-74711800	Genic enhancers	NH-A	brain
42	chr15:74706400-74714600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:74706600-74709600	Genic enhancers	Osteobl	bone
44	chr15:74706600-74710400	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr15:74706800-74710400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:74706800-74710400	Strong transcription	Lung	lung
47	chr15:74706800-74711800	Genic enhancers	Thymus	Thymus
48	chr15:74706800-74715000	Weak transcription	Aorta	Aorta
49	chr15:74707000-74709800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr15:74707200-74710200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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