Variant report

Variant	nsv366533
Chromosome Location	chr7:6522464-6522475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr7:6522425-6523098	K562	blood:	n/a	n/a
2	CHD1	chr7:6522457-6524240	IMR90	lung:	n/a	chr7:6523177-6523187
3	CHD1	chr7:6522373-6524009	GM12878	blood:	n/a	chr7:6523177-6523187
4	CTCF	chr7:6522460-6522610	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr7:6522460-6522610	NHEK	skin:	n/a	n/a
6	GATA1	chr7:6522405-6523052	PBDE	blood:	n/a	n/a
7	GATA3	chr7:6522463-6523034	MCF-7	breast:	n/a	n/a
8	GATA3	chr7:6522416-6523034	T-47D	breast:	n/a	n/a
9	HEY1	chr7:6522416-6523320	HepG2	liver:	n/a	n/a
10	MAX	chr7:6522353-6524115	K562	blood:	n/a	chr7:6523556-6523565
11	MTA3	chr7:6522448-6523381	GM12878	blood:	n/a	n/a
12	MXI1	chr7:6521875-6524294	IMR90	lung:	n/a	n/a
13	MXI1	chr7:6521933-6524680	SK-N-SH	brain:	n/a	n/a
14	MYBL2	chr7:6521887-6522494	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:6522465-6523354	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:6521902-6524052	IMR90	lung:	n/a	n/a
17	POLR2A	chr7:6522370-6524106	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:6521038-6524115	HepG2	liver:	n/a	n/a
19	POLR2A	chr7:6521823-6524383	HepG2	liver:	n/a	n/a
20	TEAD4	chr7:6522365-6522958	K562	blood:	n/a	n/a
21	TEAD4	chr7:6521870-6522714	HepG2	liver:	n/a	n/a
22	YY1	chr7:6522447-6522604	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27857335..27860257-chr7:6521676..6523586,2	MCF-7	breast:
2	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:
3	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
4	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:
5	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
6	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
7	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
8	chr1:107863835..107864489-chr7:6521954..6522744,2	MCF-7	breast:
9	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269781	TF binding region
ENSG00000205903	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000231359	chromatin interactions
ENSG00000164535	chromatin interactions

Extended variants
information (count: 4 )
Associated
traits (count: 76 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201968306	chr7:6522464-6522465	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs201936540	chr7:6522472-6522473	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs567971611	chr7:6522474-6522475	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs201381963	chr7:6522475-6522476	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:6517000-6522600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:6519400-6522600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:6520400-6522600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:6520800-6524600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:6521200-6522600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr7:6521200-6522800	Flanking Active TSS	Liver	Liver
10	chr7:6521400-6522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:6521400-6522800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:6521400-6524000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr7:6521400-6524200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:6521400-6524200	Active TSS	Pancreas	Pancrea
15	chr7:6521600-6524600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:6521800-6522600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6521800-6522600	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:6521800-6522600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr7:6521800-6524400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:6522000-6522600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:6522000-6522600	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:6522000-6522600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr7:6522000-6522600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:6522000-6522600	Flanking Active TSS	Fetal Stomach	stomach
25	chr7:6522000-6522600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:6522000-6522600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:6522000-6522600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:6522000-6522600	Flanking Active TSS	Hela-S3	cervix
29	chr7:6522000-6522800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:6522000-6522800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:6522000-6522800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr7:6522000-6522800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr7:6522000-6522800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr7:6522000-6523000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr7:6522000-6523200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr7:6522000-6523200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:6522000-6523800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:6522000-6524000	Active TSS	Fetal Intestine Large	intestine
39	chr7:6522000-6524200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr7:6522000-6524400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:6522000-6524400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:6522000-6524400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:6522000-6524400	Active TSS	Right Atrium	heart
44	chr7:6522200-6522600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:6522200-6522600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr7:6522200-6522600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:6522200-6522600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:6522200-6522600	Enhancers	Brain Hippocampus Middle	brain
49	chr7:6522200-6522600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:6522200-6522600	Enhancers	Fetal Heart	heart

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