Variant report

Variant	nsv569253
Chromosome Location	chr15:44134922-44138326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	15:43782117-43785993..15:44128499-44135043	GM12878	blood:
2	15:44092692-44100030..15:44128499-44135043	GM12878	blood:
3	chr15:44104530..44106694-chr15:44134713..44136678,2	K562	blood:
4	15:43792489-43802874..15:44128499-44135043	GM12878	blood:
5	15:44080886-44089111..15:44128499-44135043	GM12878	blood:
6	chr15:44130808..44133244-chr15:44134272..44137291,3	K562	blood:

Variant related genes	Relation type
ENSG00000242028	chromatin interactions
ENSG00000067369	chromatin interactions
ENSG00000221792	chromatin interactions
ENSG00000140264	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8032649	chr15:44134922-44134923	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562989146	chr15:44134923-44134924	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531946507	chr15:44134926-44134927	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs373354536	chr15:44134933-44134934	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs568174437	chr15:44134943-44134944	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs145991488	chr15:44134963-44134964	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs16976783	chr15:44134966-44134967	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191328808	chr15:44134994-44134995	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs539390843	chr15:44135013-44135014	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs138335600	chr15:44135019-44135020	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs570632013	chr15:44135076-44135077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2628032	chr15:44135081-44135082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575784461	chr15:44135141-44135142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12909564	chr15:44135156-44135157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535284261	chr15:44135176-44135177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554615525	chr15:44135180-44135181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184576489	chr15:44135200-44135201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74626691	chr15:44135205-44135206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377732259	chr15:44135210-44135211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568435979	chr15:44135211-44135212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574621283	chr15:44135224-44135225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540220813	chr15:44135226-44135227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560327840	chr15:44135227-44135228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112748499	chr15:44135233-44135234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8033189	chr15:44135234-44135235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577464438	chr15:44135260-44135261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552929883	chr15:44135275-44135276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189413331	chr15:44135285-44135286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563204232	chr15:44135308-44135309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533093773	chr15:44135350-44135351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376878436	chr15:44135366-44135367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548819602	chr15:44135368-44135369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561741766	chr15:44135393-44135394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142889077	chr15:44135399-44135400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373546280	chr15:44135496-44135497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528112793	chr15:44135497-44135498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547359233	chr15:44135504-44135505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199788243	chr15:44135527-44135528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570398970	chr15:44135543-44135544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539420307	chr15:44135573-44135574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150636030	chr15:44135596-44135597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569637638	chr15:44135673-44135674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182231418	chr15:44135702-44135703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113376585	chr15:44135748-44135749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555177834	chr15:44135793-44135794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574586538	chr15:44135802-44135803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186924962	chr15:44135805-44135806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534082372	chr15:44135815-44135816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377324485	chr15:44135836-44135837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4923967	chr15:44135888-44135889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Oral squamous cell carcinoma	17134496	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
Renal cell carcinoma	18765545	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
Mental retardation	17124404	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44119600-44135200	Weak transcription	Lung	lung
3	chr15:44119600-44142000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
5	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
7	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
9	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
10	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
11	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
13	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr15:44119800-44144400	Weak transcription	Right Ventricle	heart
15	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:44120400-44143000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:44120600-44137800	Weak transcription	NH-A	brain
19	chr15:44120600-44138200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:44120600-44140200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:44120600-44143200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:44120600-44143200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:44120600-44149200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:44120600-44150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:44120600-44150800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:44120600-44156600	Weak transcription	Fetal Brain Male	brain
27	chr15:44120600-44157800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:44120600-44158600	Weak transcription	Colonic Mucosa	Colon
29	chr15:44120600-44159600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:44120600-44161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:44120600-44164600	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:44120600-44164600	Weak transcription	NHEK	skin
33	chr15:44120600-44165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:44121000-44137400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:44121000-44137400	Weak transcription	Osteobl	bone
36	chr15:44121000-44143000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:44121000-44143200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr15:44121000-44143200	Weak transcription	HSMM	muscle
39	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:44121400-44159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr15:44121400-44160600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:44121600-44150800	Weak transcription	Fetal Heart	heart
43	chr15:44121600-44151200	Weak transcription	NHLF	lung
44	chr15:44122000-44157000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:44122400-44143200	Weak transcription	Placenta	Placenta
46	chr15:44124000-44166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:44124600-44150800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:44126000-44136400	Strong transcription	Fetal Thymus	thymus
49	chr15:44126200-44136800	Strong transcription	Dnd41	blood
50	chr15:44126200-44140800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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