Variant report

Variant	nsv971404
Chromosome Location	chr7:128262010-128266439
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	CTCF	chr7:128263240-128263390	K562	blood:	n/a	n/a
2	FOS	chr7:128263766-128263815	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:128266175-128266368	K562	blood:	n/a	n/a
4	POLR2A	chr7:128265402-128265518	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-177P	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369033743	chr7:128262022-128262023	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554910222	chr7:128262129-128262130	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574776569	chr7:128262135-128262136	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566129509	chr7:128262141-128262142	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536261714	chr7:128262142-128262143	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554903678	chr7:128262152-128262153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186917653	chr7:128262155-128262156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs200692008	chr7:128262162-128262163	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11971248	chr7:128262164-128262165	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs556485408	chr7:128262204-128262205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142283962	chr7:128262209-128262210	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577942898	chr7:128262216-128262217	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545198101	chr7:128262231-128262232	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553921965	chr7:128262233-128262234	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150536936	chr7:128262245-128262246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572058363	chr7:128262249-128262250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542353660	chr7:128262311-128262312	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560977547	chr7:128262351-128262352	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369929698	chr7:128262371-128262372	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151100972	chr7:128262391-128262392	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191801542	chr7:128262423-128262424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6967393	chr7:128262425-128262426	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs565209405	chr7:128262434-128262435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531016324	chr7:128262442-128262443	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150279675	chr7:128262460-128262461	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545320228	chr7:128262463-128262464	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181434743	chr7:128262517-128262518	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185726348	chr7:128262607-128262608	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548384234	chr7:128262618-128262619	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377550485	chr7:128262628-128262629	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190090890	chr7:128262651-128262652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530306139	chr7:128262666-128262667	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550124040	chr7:128262729-128262730	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571534388	chr7:128262757-128262758	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538837776	chr7:128262775-128262776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554054610	chr7:128262852-128262853	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572135948	chr7:128262864-128262865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201739248	chr7:128262868-128262869	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536378223	chr7:128262872-128262873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3896308	chr7:128262937-128262938	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs182355744	chr7:128263016-128263017	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566146824	chr7:128263153-128263154	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542978865	chr7:128263159-128263160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187772201	chr7:128263198-128263199	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577077011	chr7:128263204-128263205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192067442	chr7:128263212-128263213	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372434927	chr7:128263236-128263237	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35765280	chr7:128263289-128263290	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs541323390	chr7:128263344-128263345	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs559938709	chr7:128263354-128263355	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	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:221 , 50 per page) page: 1 2 3 4 5

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	chr7:128239600-128262400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:128240200-128269400	Weak transcription	Primary B cells from cord blood	blood
9	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
11	chr7:128249600-128268600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:128249600-128271000	Weak transcription	A549	lung
13	chr7:128249600-128271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:128249600-128272000	Weak transcription	Fetal Kidney	kidney
15	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
17	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
18	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
19	chr7:128249600-128289000	Weak transcription	NHEK	skin
20	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:128249600-128295200	Weak transcription	NH-A	brain
22	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
23	chr7:128249600-128308400	Weak transcription	HSMM	muscle
24	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
25	chr7:128249600-128319600	Weak transcription	NHLF	lung
26	chr7:128250200-128263200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:128250200-128274600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr7:128250200-128274800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:128252000-128262800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:128253800-128264000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:128253800-128274000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:128254200-128263800	Strong transcription	Fetal Thymus	thymus
34	chr7:128254200-128272600	Strong transcription	Liver	Liver
35	chr7:128254200-128274600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:128254800-128276600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:128255000-128263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:128255200-128274600	Strong transcription	Placenta	Placenta
39	chr7:128255400-128262800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:128255400-128263800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:128255400-128274600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:128256000-128263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:128256000-128266800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr7:128256000-128272600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:128256000-128274600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:128256400-128274600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:128256600-128270200	Weak transcription	NHDF-Ad	bronchial
48	chr7:128256800-128262200	Weak transcription	Small Intestine	intestine
49	chr7:128256800-128288600	Weak transcription	Osteobl	bone
50	chr7:128257400-128263800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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