Variant report

Variant	esv2154745
Chromosome Location	chr7:6460359-6460366
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	POLR2A	chr7:6460274-6460704	A549	lung:	n/a	n/a
2	POLR2A	chr7:6460144-6460649	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:6460045-6460734	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr7:6460197-6460403	U87	brain:	n/a	n/a
5	POLR2A	chr7:6460091-6460887	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6459412..6462059-chr7:6463875..6466225,2	K562	blood:
2	chr7:6459143..6461711-chr7:6462987..6466871,3	K562	blood:
3	chr7:6454958..6457155-chr7:6459947..6462538,2	MCF-7	breast:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000164535	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72094559	chr7:6460359-6460360	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs367711257	chr7:6460361-6460362	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201557901	chr7:6460365-6460366	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
3	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6440200-6461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
12	chr7:6440800-6460600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr7:6441200-6471400	Strong transcription	Brain Germinal Matrix	brain
14	chr7:6443800-6465200	Weak transcription	Fetal Heart	heart
15	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:6444000-6474600	Strong transcription	Lung	lung
17	chr7:6448600-6470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:6450400-6460600	Weak transcription	Fetal Brain Male	brain
19	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
20	chr7:6452600-6461400	Weak transcription	K562	blood
21	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:6453000-6463600	Weak transcription	GM12878-XiMat	blood
23	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
24	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
25	chr7:6454600-6463600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:6456600-6464400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:6456800-6460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:6456800-6460400	Weak transcription	Aorta	Aorta
30	chr7:6456800-6461200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:6456800-6461200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:6456800-6464000	Weak transcription	Stomach Mucosa	stomach
33	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:6457000-6464000	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:6457200-6460400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:6457200-6460400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:6457200-6461400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:6457200-6464000	Weak transcription	Primary B cells from cord blood	blood
39	chr7:6457400-6460400	Weak transcription	Left Ventricle	heart
40	chr7:6457400-6461600	Weak transcription	Brain Substantia Nigra	brain
41	chr7:6457400-6462800	Strong transcription	Placenta	Placenta
42	chr7:6457400-6463400	Weak transcription	HepG2	liver
43	chr7:6457400-6463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:6457400-6464200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:6457600-6461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
47	chr7:6458600-6460400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:6458800-6460400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:6458800-6460800	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr7:6458800-6461600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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