Variant report

Variant	nsv976925
Chromosome Location	chr15:42009106-42015264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr15:42015039-42015164	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr15:42010653-42010936	SH-SY5Y	brain:	n/a	n/a
3	JUN	chr15:42010164-42010322	HepG2	liver:	n/a	chr15:42010247-42010256 chr15:42010246-42010259
4	JUN	chr15:42013223-42013299	K562	blood:	n/a	n/a
5	KAP1	chr15:42009916-42010252	K562	blood:	n/a	n/a
6	MAFK	chr15:42015223-42015476	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:42014640-42014643	K562	blood:	n/a	n/a
8	POLR2A	chr15:42012522-42012565	ProgFib	skin:	n/a	n/a
9	POLR2A	chr15:42012453-42012560	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:42014544-42014638	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42010789..42012329-chr15:42064397..42066596,2	K562	blood:

Variant related genes	Relation type
ENSG00000270702	TF binding region
ENSG00000260814	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs567620715	chr15:42009141-42009142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191592313	chr15:42009147-42009148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553374230	chr15:42009148-42009149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565835039	chr15:42009175-42009176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534947793	chr15:42009187-42009188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557653843	chr15:42009212-42009213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148985353	chr15:42009221-42009222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543087015	chr15:42009284-42009285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145706661	chr15:42009348-42009349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113221434	chr15:42009349-42009350	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs67376412	chr15:42009350-42009351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200412612	chr15:42009351-42009352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60739135	chr15:42009352-42009353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199555166	chr15:42009353-42009354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200976254	chr15:42009354-42009355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201884079	chr15:42009355-42009356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184380410	chr15:42009382-42009383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143473483	chr15:42009406-42009407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189262838	chr15:42009420-42009421	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528567177	chr15:42009429-42009430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376840228	chr15:42009438-42009439	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528763689	chr15:42009451-42009452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545697919	chr15:42009458-42009459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565447622	chr15:42009475-42009476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531127457	chr15:42009488-42009489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371426309	chr15:42009489-42009490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35359048	chr15:42009495-42009496	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567756603	chr15:42009547-42009548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192744127	chr15:42009557-42009558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531599920	chr15:42009564-42009565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543483033	chr15:42009612-42009613	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546658864	chr15:42009619-42009620	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566892841	chr15:42009640-42009641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184731532	chr15:42009645-42009646	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565249329	chr15:42009710-42009711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535828859	chr15:42009737-42009738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549213044	chr15:42009805-42009806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571064188	chr15:42009835-42009836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536837759	chr15:42009964-42009965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189070719	chr15:42009971-42009972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181460554	chr15:42010000-42010001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184864221	chr15:42010142-42010143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552657831	chr15:42010210-42010211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75495016	chr15:42010212-42010213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76055979	chr15:42010214-42010215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545327904	chr15:42010239-42010240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565589137	chr15:42010270-42010271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576050445	chr15:42010305-42010306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140790438	chr15:42010339-42010340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78251912	chr15:42010367-42010368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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	20164920	CNVD
Hodgkin''s lymphoma	18641027	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41972400-42065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41984200-42034800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41989000-42041600	Weak transcription	Fetal Brain Male	brain
4	chr15:41989200-42009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:41995400-42023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:41996200-42034800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:41999800-42018400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:42002000-42021400	Weak transcription	Esophagus	oesophagus
9	chr15:42002200-42028400	Weak transcription	Pancreas	Pancrea
10	chr15:42002600-42015600	Weak transcription	Psoas Muscle	Psoas
11	chr15:42003600-42021800	Weak transcription	Lung	lung
12	chr15:42003600-42026800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:42003600-42027000	Weak transcription	Brain Germinal Matrix	brain
14	chr15:42003600-42028400	Weak transcription	Aorta	Aorta
15	chr15:42003800-42021400	Weak transcription	Fetal Kidney	kidney
16	chr15:42003800-42027200	Weak transcription	Spleen	Spleen
17	chr15:42003800-42028400	Weak transcription	Gastric	stomach
18	chr15:42003800-42028400	Weak transcription	Small Intestine	intestine
19	chr15:42003800-42056000	Weak transcription	Colonic Mucosa	Colon
20	chr15:42004000-42020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:42004000-42021200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:42004000-42021400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:42004000-42026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:42004000-42027000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:42004200-42012600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:42004200-42021400	Weak transcription	Left Ventricle	heart
27	chr15:42004600-42020200	Weak transcription	Fetal Stomach	stomach
28	chr15:42004600-42026600	Weak transcription	Right Ventricle	heart
29	chr15:42004800-42021400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:42005000-42011600	Weak transcription	Fetal Intestine Small	intestine
31	chr15:42005400-42019200	Weak transcription	HSMMtube	muscle
32	chr15:42005400-42027000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:42005400-42028400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:42005600-42011800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:42005600-42018600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:42005600-42021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:42005600-42027200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:42005600-42027400	Weak transcription	NHDF-Ad	bronchial
39	chr15:42005800-42018200	Weak transcription	K562	blood
40	chr15:42005800-42020800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr15:42005800-42020800	Weak transcription	HUVEC	blood vessel
42	chr15:42005800-42022600	Weak transcription	Brain Angular Gyrus	brain
43	chr15:42005800-42027000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:42005800-42028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:42006000-42010600	Weak transcription	Brain Substantia Nigra	brain
46	chr15:42006000-42019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:42006000-42021400	Weak transcription	Brain Anterior Caudate	brain
48	chr15:42006000-42022600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:42006000-42026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:42006000-42028400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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