Variant report

Variant	esv3477639
Chromosome Location	chr7:5948726-5953124
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	chr7:5951144-5951196	GM13976	blood:	n/a	n/a
2	MYC	chr7:5949836-5949929	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:5951014-5951168	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:5951332-5951476	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:5949015-5949360	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:5948020-5949317	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:5949851-5949873	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:5948982-5948989	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:5953044-5953663	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:5952399-5952443	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr7:5952551-5952703	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:5949530-5950007	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:5948956-5949290	GM12892	blood:	n/a	n/a
14	POLR2A	chr7:5948579-5949331	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:5953098-5953696	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:5949876-5949926	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:5949088-5949273	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:5948985-5949292	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:5948950-5948997	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:5948870-5949311	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:5948783-5949396	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:5949116-5949122	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:5948488-5948795	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:5949070-5949073	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:5949124-5949315	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:5948898-5949235	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:5949133-5949240	MCF-7	breast:	n/a	n/a
28	POLR2A	chr7:5948014-5948739	GM12892	blood:	n/a	n/a
29	POLR2A	chr7:5949043-5949321	GM12878	blood:	n/a	n/a
30	SPI1	chr7:5952699-5952941	GM12878	blood:	n/a	chr7:5952789-5952798 chr7:5952786-5952799 chr7:5952787-5952800

Variant related genes	Relation type
CCZ1	TF binding region

Extended variants
information (count: 272 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71547798	chr7:5948726-5948727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10645268	chr7:5948737-5948738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113169603	chr7:5948738-5948739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373051572	chr7:5948739-5948740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550781952	chr7:5948752-5948753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76933578	chr7:5948753-5948754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569159412	chr7:5948764-5948765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530333273	chr7:5948822-5948823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185423174	chr7:5948828-5948829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548511841	chr7:5948860-5948861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371666860	chr7:5948862-5948863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199753105	chr7:5948886-5948887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534225823	chr7:5948888-5948889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558766042	chr7:5948894-5948895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71524062	chr7:5948911-5948912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571262815	chr7:5948924-5948925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6977454	chr7:5948926-5948927	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183538847	chr7:5948964-5948965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61400685	chr7:5948974-5948975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12333342	chr7:5948989-5948990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371867855	chr7:5949073-5949074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375321542	chr7:5949096-5949097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144587289	chr7:5949114-5949115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572736908	chr7:5949124-5949125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2906504	chr7:5949125-5949126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540240431	chr7:5949136-5949137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564798983	chr7:5949147-5949148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576531153	chr7:5949151-5949152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576535136	chr7:5949152-5949153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544356451	chr7:5949169-5949170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562731334	chr7:5949189-5949190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543627573	chr7:5949198-5949199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201399522	chr7:5949202-5949203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530277239	chr7:5949205-5949206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548579251	chr7:5949216-5949217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199520684	chr7:5949219-5949220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200864397	chr7:5949223-5949224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552545388	chr7:5949245-5949246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147891550	chr7:5949329-5949330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574425269	chr7:5949338-5949339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570918482	chr7:5949349-5949350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116682437	chr7:5949371-5949372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2345621	chr7:5949392-5949393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569053238	chr7:5949412-5949413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536488504	chr7:5949451-5949452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62453593	chr7:5949491-5949492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554535073	chr7:5949503-5949504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117167852	chr7:5949531-5949532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62453594	chr7:5949599-5949600	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558530762	chr7:5949608-5949609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5935200-5951600	Weak transcription	HMEC	breast
2	chr7:5938000-5950600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:5938200-5949400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:5938200-5949600	Weak transcription	HUVEC	blood vessel
5	chr7:5938200-5950600	Weak transcription	Colonic Mucosa	Colon
6	chr7:5938200-5952200	Weak transcription	NHDF-Ad	bronchial
7	chr7:5938200-5952400	Weak transcription	GM12878-XiMat	blood
8	chr7:5938200-5952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:5938200-5955600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:5938200-5962800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:5938200-5963400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:5938200-5969400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:5938400-5949600	Weak transcription	Esophagus	oesophagus
14	chr7:5938400-5949600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:5938400-5949600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:5938400-5950600	Weak transcription	Osteobl	bone
17	chr7:5938400-5950800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:5938400-5952200	Weak transcription	HepG2	liver
19	chr7:5938400-5952400	Weak transcription	Primary B cells from cord blood	blood
20	chr7:5938400-5952400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:5938400-5955600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:5938400-5955600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:5938400-5957800	Weak transcription	Aorta	Aorta
24	chr7:5938400-5963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:5938400-5966600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:5938400-5966800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:5938400-5966800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:5938400-5967800	Weak transcription	HSMMtube	muscle
29	chr7:5938400-5971000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:5938400-5971400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:5938400-5972600	Weak transcription	Fetal Brain Female	brain
32	chr7:5938600-5950600	Weak transcription	Right Ventricle	heart
33	chr7:5938600-5962400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:5939600-5948800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:5939600-5950800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:5939600-5952200	Weak transcription	Small Intestine	intestine
37	chr7:5939600-5964200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:5939800-5949400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:5939800-5950400	Weak transcription	Fetal Stomach	stomach
40	chr7:5939800-5950600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:5939800-5950800	Weak transcription	NH-A	brain
42	chr7:5939800-5954600	Weak transcription	Fetal Heart	heart
43	chr7:5939800-5963200	Weak transcription	A549	lung
44	chr7:5939800-5966400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:5940000-5950800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:5941200-5955200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr7:5941800-5952600	Strong transcription	Fetal Muscle Leg	muscle
48	chr7:5942400-5950000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:5942600-5952200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:5943000-5950600	Weak transcription	Hela-S3	cervix

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