Variant report

Variant	nsv974711
Chromosome Location	chr15:41360002-41370961
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	CEBPB	chr15:41363904-41364003	IMR90	lung:	n/a	chr15:41363972-41363983
2	JUN	chr15:41364389-41364426	HepG2	liver:	n/a	chr15:41364408-41364421 chr15:41364409-41364418
3	MAFF	chr15:41370349-41370706	HepG2	liver:	n/a	chr15:41370512-41370530
4	MAFF	chr15:41370364-41370683	K562	blood:	n/a	chr15:41370512-41370530
5	MAFK	chr15:41370341-41370705	HepG2	liver:	n/a	chr15:41370509-41370526 chr15:41370513-41370529 chr15:41370517-41370528 chr15:41370516-41370530 chr15:41370513-41370528
6	MAFK	chr15:41370355-41370702	HepG2	liver:	n/a	chr15:41370509-41370526 chr15:41370513-41370529 chr15:41370517-41370528 chr15:41370516-41370530 chr15:41370513-41370528
7	MAFK	chr15:41370365-41370685	K562	blood:	n/a	chr15:41370509-41370526 chr15:41370513-41370529 chr15:41370517-41370528 chr15:41370516-41370530 chr15:41370513-41370528
8	MAFK	chr15:41370375-41370691	Hela-S3	cervix:	n/a	chr15:41370509-41370526 chr15:41370513-41370529 chr15:41370517-41370528 chr15:41370516-41370530 chr15:41370513-41370528
9	MAFK	chr15:41370338-41370701	IMR90	lung:	n/a	chr15:41370509-41370526 chr15:41370513-41370529 chr15:41370517-41370528 chr15:41370516-41370530 chr15:41370513-41370528
10	MAFK	chr15:41370414-41370649	H1-hESC	embryonic stem cell:	n/a	chr15:41370509-41370526 chr15:41370513-41370529 chr15:41370517-41370528 chr15:41370516-41370530 chr15:41370513-41370528
11	POLR2A	chr15:41361451-41361549	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:41360516-41360710	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:41361906-41362165	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr15:41365128-41365287	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:41363211-41363315	MCF-7	breast:	n/a	n/a
16	POLR2A	chr15:41361422-41361426	HepG2	liver:	n/a	n/a
17	POLR2A	chr15:41360819-41361038	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:41366926-41367174	HepG2	liver:	n/a	n/a
19	POLR2A	chr15:41361413-41361431	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:41369881-41369933	A549	lung:	n/a	n/a
21	POLR2A	chr15:41362875-41362925	K562	blood:	n/a	n/a
22	POLR2A	chr15:41360201-41360220	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr15:41363189-41363370	ProgFib	skin:	n/a	n/a
24	POLR2A	chr15:41360538-41360576	K562	blood:	n/a	n/a
25	POLR2A	chr15:41363037-41363272	HepG2	liver:	n/a	n/a
26	POLR2A	chr15:41360358-41360374	HepG2	liver:	n/a	n/a
27	POLR2A	chr15:41360327-41360346	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:41360347-41360350	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:41360425-41360430	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:41362577-41362939	HepG2	liver:	n/a	n/a
31	POLR2A	chr15:41369056-41369170	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr15:41363092-41363337	K562	blood:	n/a	n/a
33	STAT3	chr15:41366683-41366858	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr15:41367143-41367204	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41344528..41346229-chr15:41370109..41372324,2	MCF-7	breast:
2	chr15:41369235..41371146-chr15:41373294..41375147,2	K562	blood:
3	chr1:202776175..202779062-chr15:41362025..41364472,2	MCF-7	breast:
4	chr15:41366851..41369456-chr15:41474724..41476763,2	K562	blood:
5	chr15:41363827..41365567-chr15:41370879..41372945,2	K562	blood:
6	chr15:41367609..41370089-chr15:41407814..41410461,2	K562	blood:
7	chr15:41363827..41365915-chr15:41370307..41373958,3	K562	blood:

Variant related genes	Relation type
INO80	TF binding region
ENSG00000117139	chromatin interactions
ENSG00000128908	chromatin interactions

Extended variants
information (count: 473 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71472467	chr15:41360043-41360044	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35140605	chr15:41360054-41360055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142919593	chr15:41360057-41360058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182290643	chr15:41360069-41360070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536680286	chr15:41360119-41360120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544262172	chr15:41360179-41360180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541563522	chr15:41360217-41360218	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560959094	chr15:41360224-41360225	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529779202	chr15:41360242-41360243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187665256	chr15:41360243-41360244	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192582832	chr15:41360270-41360271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532761993	chr15:41360293-41360294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553522542	chr15:41360333-41360334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552414753	chr15:41360337-41360338	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551512167	chr15:41360398-41360399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569251876	chr15:41360422-41360423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151093207	chr15:41360425-41360426	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140753071	chr15:41360437-41360438	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568529648	chr15:41360477-41360478	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71430297	chr15:41360480-41360481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28728367	chr15:41360492-41360493	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554264467	chr15:41360539-41360540	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566502763	chr15:41360570-41360571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184785532	chr15:41360571-41360572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188256127	chr15:41360575-41360576	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575653416	chr15:41360615-41360616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544202881	chr15:41360616-41360617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554302174	chr15:41360633-41360634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192316060	chr15:41360634-41360635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184474239	chr15:41360681-41360682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2928154	chr15:41360774-41360775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560196321	chr15:41360784-41360785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532589121	chr15:41360808-41360809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368159902	chr15:41360814-41360815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546035098	chr15:41360815-41360816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138616350	chr15:41360861-41360862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567895444	chr15:41360892-41360893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531918337	chr15:41360966-41360967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548489617	chr15:41360995-41360996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141107525	chr15:41361022-41361023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527690322	chr15:41361033-41361034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547531734	chr15:41361034-41361035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12899007	chr15:41361057-41361058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570962952	chr15:41361068-41361069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538831332	chr15:41361077-41361078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376794294	chr15:41361080-41361081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189584833	chr15:41361081-41361082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75275253	chr15:41361083-41361084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16971454	chr15:41361138-41361139	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs554869297	chr15:41361151-41361152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Acute lymphoblastic leukemia	18458336	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
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41328800-41388600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:41334600-41389000	Strong transcription	Primary T helper cells PMA-I stimulated	--
3	chr15:41336800-41380400	Strong transcription	Osteobl	bone
4	chr15:41340800-41366800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:41341600-41360400	Weak transcription	Stomach Mucosa	stomach
6	chr15:41341600-41389000	Strong transcription	Liver	Liver
7	chr15:41345200-41373600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:41346800-41368600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:41347000-41380200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:41348400-41363400	Strong transcription	Brain Germinal Matrix	brain
11	chr15:41349400-41362400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:41349400-41365200	Weak transcription	Fetal Heart	heart
13	chr15:41351200-41363800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:41352600-41360400	Weak transcription	Brain Angular Gyrus	brain
15	chr15:41354000-41368600	Strong transcription	NH-A	brain
16	chr15:41354200-41389200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr15:41354600-41367400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr15:41354600-41388800	Strong transcription	Fetal Intestine Large	intestine
19	chr15:41354600-41389000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr15:41354800-41388600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr15:41354800-41389200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:41355000-41361600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:41355000-41361600	Weak transcription	HMEC	breast
24	chr15:41355000-41362000	Strong transcription	Fetal Intestine Small	intestine
25	chr15:41355000-41363400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:41355000-41364400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:41355000-41364400	Strong transcription	Left Ventricle	heart
28	chr15:41355000-41367200	Strong transcription	Ovary	ovary
29	chr15:41355000-41367400	Strong transcription	Adipose Nuclei	Adipose
30	chr15:41355000-41369200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:41355000-41370800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr15:41355000-41374200	Strong transcription	Hela-S3	cervix
33	chr15:41355000-41380200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:41355000-41380800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:41355000-41381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:41355000-41388400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:41355000-41389400	Strong transcription	Placenta	Placenta
38	chr15:41355000-41392000	Strong transcription	Fetal Thymus	thymus
39	chr15:41355000-41392400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr15:41355000-41393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:41355200-41367200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:41355200-41370600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:41355200-41388600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:41355200-41388800	Strong transcription	Primary T cells from cord blood	blood
45	chr15:41355400-41360200	Weak transcription	HSMMtube	muscle
46	chr15:41355400-41360400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:41355400-41362000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:41355400-41362400	Weak transcription	Colonic Mucosa	Colon
49	chr15:41355400-41362600	Weak transcription	Small Intestine	intestine
50	chr15:41355400-41368800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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