Variant report

Variant	esv3368916
Chromosome Location	chr7:6520915-6521328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr7:6521096-6521349	K562	blood:	n/a	n/a
2	POLR2A	chr7:6521298-6521569	K562	blood:	n/a	n/a
3	POLR2A	chr7:6521038-6524115	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:6521207-6521337	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:6521022-6521389	K562	blood:	n/a	n/a
6	POLR2A	chr7:6519345-6521609	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:6521203-6521368	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:6521046-6521622	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:6521083-6521623	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:6519940-6521090	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:6519335-6521689	IMR90	lung:	n/a	n/a
12	POLR2A	chr7:6521273-6521572	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:6521074-6521524	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:6521094-6521502	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:6520882-6521000	K562	blood:	n/a	n/a
16	POLR2A	chr7:6521151-6521468	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:6521012-6521592	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6515936..6521284-chr7:6521487..6524392,7	MCF-7	breast:
2	chr7:6499949..6501557-chr7:6518916..6521343,2	MCF-7	breast:
3	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
4	chr7:6517704..6522059-chr7:6522068..6526480,12	K562	blood:
5	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
6	chr7:6519667..6521215-chr7:6538954..6541938,2	K562	blood:
7	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
8	chr7:6500191..6503008-chr7:6519492..6521377,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269781	TF binding region
ENSG00000136247	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000164535	chromatin interactions
ENSG00000136240	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189083303	chr7:6520973-6520974	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs151274915	chr7:6520975-6520976	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs6960903	chr7:6520986-6520987	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11388243	chr7:6520997-6520998	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs200450980	chr7:6521008-6521009	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs398111003	chr7:6521011-6521012	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557886703	chr7:6521020-6521021	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs114251923	chr7:6521027-6521028	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs577151378	chr7:6521042-6521043	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs543706022	chr7:6521055-6521056	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs182259313	chr7:6521056-6521057	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs55858049	chr7:6521078-6521079	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs187309365	chr7:6521103-6521104	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139125065	chr7:6521121-6521122	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12112241	chr7:6521144-6521145	Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs376648500	chr7:6521210-6521211	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs545296891	chr7:6521212-6521213	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs563875441	chr7:6521232-6521233	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs78158955	chr7:6521258-6521259	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs111818780	chr7:6521300-6521301	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs560991319	chr7:6521306-6521307	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	4 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:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6499600-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:6503600-6522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6505000-6521400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:6507600-6522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:6507800-6522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:6508000-6522000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:6509200-6521400	Strong transcription	NHEK	skin
8	chr7:6509800-6522000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:6510200-6522200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:6510200-6522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:6510200-6522600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:6511600-6521600	Weak transcription	Fetal Brain Male	brain
13	chr7:6513200-6522400	Weak transcription	Aorta	Aorta
14	chr7:6513200-6522400	Weak transcription	Lung	lung
15	chr7:6513400-6521200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:6513400-6521200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:6513600-6521200	Weak transcription	Fetal Lung	lung
18	chr7:6514000-6522400	Weak transcription	Thymus	Thymus
19	chr7:6514200-6522000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr7:6514800-6521400	Weak transcription	HMEC	breast
21	chr7:6516400-6521800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:6516600-6521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:6516800-6522000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:6517000-6521200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:6517000-6522000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:6517000-6522000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:6517000-6522600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:6517200-6521400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:6517200-6522000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:6517200-6522000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:6517200-6522000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:6517400-6521400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:6518000-6521600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:6518400-6521800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:6518800-6521000	Strong transcription	Fetal Brain Female	brain
36	chr7:6518800-6521800	Genic enhancers	Dnd41	blood
37	chr7:6518800-6522000	Enhancers	Ovary	ovary
38	chr7:6518800-6522400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:6518800-6522400	Enhancers	Left Ventricle	heart
40	chr7:6519000-6522000	Weak transcription	Primary B cells from cord blood	blood
41	chr7:6519400-6521200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr7:6519400-6521200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:6519400-6521600	Genic enhancers	Fetal Intestine Large	intestine
44	chr7:6519400-6521800	Genic enhancers	HSMM	muscle
45	chr7:6519400-6522000	Enhancers	Fetal Heart	heart
46	chr7:6519400-6522200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:6519400-6522400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:6519400-6522400	Enhancers	Stomach Mucosa	stomach
49	chr7:6519400-6522600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:6519600-6521200	Strong transcription	HUVEC	blood vessel

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