Variant report

Variant	nsv971047
Chromosome Location	chr7:128266439-128278778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:128270470-128270792	K562	blood:	n/a	n/a
2	E2F4	chr7:128267290-128267466	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr7:128267441-128267477	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:128277060-128277083	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:128267388-128267576	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr7:128267284-128267640	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:128267376-128267589	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFF	chr7:128273979-128274168	K562	blood:	n/a	chr7:128274121-128274139
9	MAFF	chr7:128274083-128274182	HepG2	liver:	n/a	chr7:128274121-128274139
10	MAFK	chr7:128274051-128274174	HepG2	liver:	n/a	chr7:128274123-128274138
11	MAFK	chr7:128273984-128274179	IMR90	lung:	n/a	chr7:128274123-128274138
12	MAFK	chr7:128273970-128274255	K562	blood:	n/a	chr7:128274123-128274138
13	MAFK	chr7:128273977-128274249	HepG2	liver:	n/a	chr7:128274123-128274138
14	POLR2A	chr7:128267597-128267730	K562	blood:	n/a	n/a
15	POLR2A	chr7:128271260-128271448	K562	blood:	n/a	n/a
16	POLR2A	chr7:128274343-128274539	K562	blood:	n/a	n/a
17	POLR2A	chr7:128273691-128273937	K562	blood:	n/a	n/a
18	POLR2A	chr7:128266861-128266955	K562	blood:	n/a	n/a
19	POLR2A	chr7:128274079-128274333	K562	blood:	n/a	n/a
20	POLR2A	chr7:128274038-128274351	K562	blood:	n/a	n/a
21	POLR2A	chr7:128276716-128276893	K562	blood:	n/a	n/a
22	POLR2A	chr7:128278524-128278951	K562	blood:	n/a	n/a
23	POLR2A	chr7:128271184-128271408	K562	blood:	n/a	n/a
24	POLR2A	chr7:128275680-128276313	K562	blood:	n/a	n/a
25	POLR2A	chr7:128269510-128274560	K562	blood:	n/a	n/a
26	POLR2A	chr7:128274776-128275405	K562	blood:	n/a	n/a
27	POLR2A	chr7:128274035-128274246	K562	blood:	n/a	n/a
28	POLR2A	chr7:128273017-128273429	K562	blood:	n/a	n/a
29	REST	chr7:128273905-128274270	SK-N-SH	brain:	n/a	n/a
30	REST	chr7:128274056-128274266	A549	lung:	n/a	n/a
31	REST	chr7:128273939-128274225	PFSK-1	brain:	n/a	n/a
32	REST	chr7:128274082-128274199	GM12878	blood:	n/a	n/a
33	REST	chr7:128273950-128274198	HepG2	liver:	n/a	n/a
34	REST	chr7:128274022-128274288	PFSK-1	brain:	n/a	n/a
35	REST	chr7:128274055-128274248	MCF-7	breast:	n/a	n/a
36	REST	chr7:128274067-128274276	HCT-116	colon:	n/a	n/a
37	REST	chr7:128274085-128274147	GM12878	blood:	n/a	n/a
38	REST	chr7:128274044-128274268	Hela-S3	cervix:	n/a	n/a
39	REST	chr7:128273760-128274412	GM12878	blood:	n/a	n/a
40	REST	chr7:128274041-128274249	ECC-1	luminal epithelium:	n/a	n/a
41	REST	chr7:128274068-128274270	HCT-116	colon:	n/a	n/a
42	REST	chr7:128273939-128274164	PANC-1	pancreas:	n/a	n/a
43	REST	chr7:128274065-128274280	ECC-1	luminal epithelium:	n/a	n/a
44	REST	chr7:128273672-128274394	SK-N-SH	brain:	n/a	n/a
45	REST	chr7:128273899-128274249	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr7:128273820-128274571	U87	brain:	n/a	n/a
47	REST	chr7:128273871-128274266	PFSK-1	brain:	n/a	n/a
48	REST	chr7:128274023-128274336	Hela-S3	cervix:	n/a	n/a
49	REST	chr7:128273934-128274233	U87	brain:	n/a	n/a
50	REST	chr7:128273889-128274282	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71F2-1	chr7:128278644-128281373	NONHSAT123217
2	lnc-FAM71F2-1	chr7:128273069-128273159	XLOC_006242
3	lnc-FAM71F2-1	chr7:128273086-128273159	NONHSAT123216

No data

Variant related genes	Relation type
RNU6-177P	TF binding region
KIF23	miRNA target sites

Extended variants
information (count: 483 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:483 , 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	rs564169362	chr7:128266508-128266509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200659083	chr7:128266517-128266518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369689184	chr7:128266524-128266525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28712157	chr7:128266564-128266565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561785739	chr7:128266567-128266568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528890494	chr7:128266615-128266616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201406122	chr7:128266627-128266628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568866048	chr7:128266672-128266673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199553580	chr7:128266696-128266697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552088902	chr7:128266774-128266775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566983394	chr7:128266862-128266863	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs534376427	chr7:128266914-128266915	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs140465445	chr7:128266995-128266996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185965928	chr7:128267017-128267018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1839596	chr7:128267032-128267033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537854778	chr7:128267041-128267042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556187249	chr7:128267042-128267043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190340706	chr7:128267065-128267066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545719118	chr7:128267164-128267165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564375631	chr7:128267170-128267171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34065072	chr7:128267180-128267181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10224759	chr7:128267299-128267300	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561630968	chr7:128267321-128267322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554615321	chr7:128267344-128267345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146560352	chr7:128267350-128267351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544313281	chr7:128267354-128267355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141287998	chr7:128267369-128267370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560660590	chr7:128267419-128267420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181199009	chr7:128267450-128267451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551810150	chr7:128267572-128267573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567119151	chr7:128267643-128267644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527890880	chr7:128267661-128267662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62481886	chr7:128267671-128267672	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs567759107	chr7:128267696-128267697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138569923	chr7:128267755-128267756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71160700	chr7:128267789-128267790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199939757	chr7:128267821-128267822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377125798	chr7:128267837-128267838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556225997	chr7:128267839-128267840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571327102	chr7:128267847-128267848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186108971	chr7:128267919-128267920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191006247	chr7:128267924-128267925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573046358	chr7:128267927-128267928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200518314	chr7:128267946-128267947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540153350	chr7:128267947-128267948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201843370	chr7:128267967-128267968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555576813	chr7:128267971-128267972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200054890	chr7:128267991-128267992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182348438	chr7:128267996-128267997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544353246	chr7:128268014-128268015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128233400-128272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:128234600-128271200	Weak transcription	Fetal Lung	lung
3	chr7:128237800-128290400	Weak transcription	HepG2	liver
4	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:128239400-128271200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:128240200-128269400	Weak transcription	Primary B cells from cord blood	blood
8	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
10	chr7:128249600-128268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:128249600-128271000	Weak transcription	A549	lung
12	chr7:128249600-128271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:128249600-128272000	Weak transcription	Fetal Kidney	kidney
14	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
16	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
17	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
18	chr7:128249600-128289000	Weak transcription	NHEK	skin
19	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:128249600-128295200	Weak transcription	NH-A	brain
21	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
22	chr7:128249600-128308400	Weak transcription	HSMM	muscle
23	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
24	chr7:128249600-128319600	Weak transcription	NHLF	lung
25	chr7:128250200-128274600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr7:128250200-128274800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:128253800-128274000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:128254200-128272600	Strong transcription	Liver	Liver
30	chr7:128254200-128274600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:128254800-128276600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:128255200-128274600	Strong transcription	Placenta	Placenta
33	chr7:128255400-128274600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:128256000-128266800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:128256000-128272600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:128256000-128274600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:128256400-128274600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:128256600-128270200	Weak transcription	NHDF-Ad	bronchial
39	chr7:128256800-128288600	Weak transcription	Osteobl	bone
40	chr7:128257600-128274600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:128257600-128274600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:128257600-128274800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:128257800-128274800	Strong transcription	Fetal Stomach	stomach
44	chr7:128258600-128274600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:128258600-128287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:128259200-128274600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:128260000-128271400	Weak transcription	K562	blood
48	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:128260200-128269200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:128260200-128271200	Weak transcription	Brain Substantia Nigra	brain

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