Variant report

Variant	nsv355880
Chromosome Location	chr7:150704979-150704981
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	CBX3	chr7:150704584-150707060	K562	blood:	n/a	n/a
2	CEBPD	chr7:150704723-150706889	K562	blood:	n/a	n/a
3	CTCF	chr7:150704940-150705090	HBMEC	blood vessel:	n/a	n/a
4	GATA1	chr7:150704926-150706061	PBDE	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705782-150705791
5	GATA1	chr7:150703848-150708627	K562	blood:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150704454-150704464 chr7:150705782-150705791
6	GATA2	chr7:150704635-150705987	HUVEC	blood vessel:	n/a	chr7:150705784-150705791 chr7:150705782-150705792 chr7:150705781-150705793 chr7:150705296-150705310 chr7:150705782-150705791
7	HMGN3	chr7:150704859-150706906	K562	blood:	n/a	chr7:150705783-150705790
8	MAX	chr7:150704941-150708585	K562	blood:	n/a	chr7:150706433-150706443
9	MAZ	chr7:150704780-150708264	K562	blood:	n/a	chr7:150706433-150706443
10	NR2F2	chr7:150704477-150708592	K562	blood:	n/a	n/a
11	NR2F2	chr7:150704937-150706184	K562	blood:	n/a	n/a
12	PML	chr7:150704980-150706255	K562	blood:	n/a	n/a
13	POLR2A	chr7:150704562-150704995	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr7:150704780-150706401	K562	blood:	n/a	n/a
15	POLR2A	chr7:150704381-150705020	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr7:150704643-150706243	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr7:150703656-150706347	HUVEC	blood vessel:	n/a	n/a
18	RCOR1	chr7:150704898-150706273	K562	blood:	n/a	n/a
19	RCOR1	chr7:150704789-150706733	K562	blood:	n/a	n/a
20	REST	chr7:150704942-150705619	K562	blood:	n/a	chr7:150704993-150705006 chr7:150704990-150704999 chr7:150704990-150705003
21	STAT5A	chr7:150704950-150706193	K562	blood:	n/a	n/a
22	TEAD4	chr7:150704918-150706365	K562	blood:	n/a	n/a
23	TEAD4	chr7:150704818-150706970	K562	blood:	n/a	n/a
24	TRIM28	chr7:150704928-150706437	K562	blood:	n/a	n/a
25	UBTF	chr7:150704778-150706610	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150702588..150705432-chr7:150714534..150717607,5	MCF-7	breast:
2	chr7:150703619..150706319-chr7:150708116..150709799,2	MCF-7	breast:

Variant related genes	Relation type
NOS3	TF binding region
ENSG00000164867	chromatin interactions
ENSG00000181652	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 88 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10595051	chr7:150704979-150704980	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150692200-150705000	Weak transcription	Ovary	ovary
2	chr7:150694600-150705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:150694800-150705200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:150695000-150705400	Weak transcription	Fetal Intestine Large	intestine
5	chr7:150699800-150706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:150701000-150706800	Weak transcription	A549	lung
7	chr7:150703400-150705200	Flanking Active TSS	HepG2	liver
8	chr7:150703400-150705400	Enhancers	HUVEC	blood vessel
9	chr7:150703400-150705600	Weak transcription	Esophagus	oesophagus
10	chr7:150703600-150705000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:150703600-150705000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150703600-150705400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:150703600-150705600	Genic enhancers	Placenta	Placenta
14	chr7:150703600-150708200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr7:150703800-150705000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:150703800-150705000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:150703800-150705200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:150703800-150705400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:150704000-150705200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:150704000-150705400	Enhancers	Fetal Muscle Leg	muscle
21	chr7:150704000-150706000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:150704000-150706000	Enhancers	Left Ventricle	heart
23	chr7:150704000-150706600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:150704200-150705000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr7:150704200-150705000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr7:150704200-150705000	Enhancers	Stomach Smooth Muscle	stomach
27	chr7:150704200-150705600	Enhancers	Right Ventricle	heart
28	chr7:150704200-150706000	Enhancers	Spleen	Spleen
29	chr7:150704200-150706400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:150704200-150707200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:150704400-150705200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:150704400-150705400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:150704400-150705400	Enhancers	Adipose Nuclei	Adipose
34	chr7:150704400-150705400	Weak transcription	Liver	Liver
35	chr7:150704400-150705600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:150704400-150706200	Enhancers	Lung	lung
37	chr7:150704400-150707200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:150704600-150705000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:150704600-150705400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:150704600-150705400	Enhancers	Fetal Thymus	thymus
41	chr7:150704600-150705400	Weak transcription	Gastric	stomach
42	chr7:150704600-150705600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:150704600-150705600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:150704600-150705600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr7:150704600-150705600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr7:150704600-150706000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:150704600-150707000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:150704800-150705000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:150704800-150705000	Enhancers	Dnd41	blood
50	chr7:150704800-150705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links