Variant report

Variant	esv1926518
Chromosome Location	chr7:56031237-56031694
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	CHD2	chr7:56031689-56033061	GM12878	blood:	n/a	n/a
2	CTBP2	chr7:56031539-56032974	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:56031580-56031730	GM12872	blood:	n/a	n/a
4	CTCF	chr7:56031666-56032570	A549	lung:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
5	CTCF	chr7:56030970-56033262	SK-N-SH	brain:	n/a	chr7:56032120-56032133 chr7:56032414-56032427
6	IRF1	chr7:56031388-56031390	K562	blood:	n/a	n/a
7	MAX	chr7:56031630-56032856	GM12878	blood:	n/a	chr7:56032448-56032458
8	MAZ	chr7:56031694-56033237	K562	blood:	n/a	chr7:56032448-56032458 chr7:56033012-56033021
9	MXI1	chr7:56031503-56033348	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:56031486-56031532	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:56031336-56031457	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:56031130-56031322	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:56031626-56031688	K562	blood:	n/a	n/a
14	POLR2A	chr7:56031537-56033095	HepG2	liver:	n/a	n/a
15	POLR2A	chr7:56030993-56033296	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:56031658-56033114	PBDE	blood:	n/a	n/a
17	POLR2A	chr7:56031689-56034148	MCF10A-Er-Src	breast:	n/a	n/a
18	RAD21	chr7:56031641-56033325	SK-N-SH	brain:	n/a	n/a
19	SMARCB1	chr7:56031675-56032972	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr7:56030976-56033304	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
2	chr7:56031002..56032516-chr7:56130202..56131906,2	K562	blood:
3	chr7:56031242..56032808-chr7:56131882..56133699,2	K562	blood:
4	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
5	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
6	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:
7	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
8	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
9	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:

Variant related genes	Relation type
GBAS	TF binding region
ENSG00000146733	chromatin interactions
ENSG00000129103	chromatin interactions
ENSG00000239789	chromatin interactions
ENSG00000146731	chromatin interactions
ENSG00000146729	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141288938	chr7:56031263-56031264	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs553800690	chr7:56031264-56031265	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs186831242	chr7:56031300-56031301	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs541672765	chr7:56031333-56031334	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs539376040	chr7:56031342-56031343	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs78800512	chr7:56031352-56031353	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs576804727	chr7:56031371-56031372	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs544155856	chr7:56031401-56031402	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs369339138	chr7:56031405-56031406	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs371859797	chr7:56031427-56031428	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs562685751	chr7:56031433-56031434	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs541288755	chr7:56031434-56031435	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs559753099	chr7:56031453-56031454	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs533278004	chr7:56031464-56031465	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs113635323	chr7:56031477-56031478	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs144180929	chr7:56031481-56031482	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs78322977	chr7:56031485-56031486	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs551745979	chr7:56031506-56031507	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs563391878	chr7:56031578-56031579	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs531484403	chr7:56031580-56031581	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs549628309	chr7:56031596-56031597	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs568033305	chr7:56031598-56031599	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs535588222	chr7:56031644-56031645	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs547282506	chr7:56031650-56031651	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs145823192	chr7:56031656-56031657	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56020200-56031400	Weak transcription	Small Intestine	intestine
2	chr7:56020200-56031600	Weak transcription	Aorta	Aorta
3	chr7:56020200-56031800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:56020400-56031400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:56020400-56031400	Weak transcription	Colonic Mucosa	Colon
6	chr7:56020400-56031400	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:56020400-56031400	Weak transcription	Esophagus	oesophagus
8	chr7:56020400-56031400	Weak transcription	Fetal Kidney	kidney
9	chr7:56020400-56031600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:56020400-56031600	Weak transcription	Psoas Muscle	Psoas
11	chr7:56020400-56031600	Weak transcription	HUVEC	blood vessel
12	chr7:56020400-56031800	Weak transcription	HSMMtube	muscle
13	chr7:56020400-56032600	Weak transcription	Fetal Lung	lung
14	chr7:56020600-56031400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:56020600-56031600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:56020600-56031800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:56021000-56031400	Weak transcription	Fetal Heart	heart
18	chr7:56021200-56031400	Weak transcription	Fetal Brain Male	brain
19	chr7:56021800-56031400	Weak transcription	Pancreas	Pancrea
20	chr7:56021800-56031600	Weak transcription	NHLF	lung
21	chr7:56022000-56031400	Weak transcription	Placenta	Placenta
22	chr7:56022000-56031600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:56022000-56031600	Weak transcription	Fetal Thymus	thymus
24	chr7:56022000-56031600	Weak transcription	Osteobl	bone
25	chr7:56022200-56031400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:56022200-56031600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:56022200-56031600	Weak transcription	Left Ventricle	heart
28	chr7:56022200-56031800	Weak transcription	Brain Germinal Matrix	brain
29	chr7:56022600-56031400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:56022600-56031400	Weak transcription	GM12878-XiMat	blood
31	chr7:56022800-56031400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:56022800-56031400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:56022800-56031600	Weak transcription	Gastric	stomach
34	chr7:56022800-56031600	Weak transcription	Ovary	ovary
35	chr7:56023000-56031400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:56023000-56031600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:56023000-56031600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:56023200-56031400	Weak transcription	Right Ventricle	heart
39	chr7:56023200-56031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:56023200-56031600	Weak transcription	HSMM	muscle
41	chr7:56023200-56031600	Weak transcription	NH-A	brain
42	chr7:56023400-56031600	Weak transcription	Liver	Liver
43	chr7:56023600-56031400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr7:56023800-56031400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:56023800-56031400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:56023800-56031600	Weak transcription	Brain Anterior Caudate	brain
47	chr7:56023800-56031600	Weak transcription	Fetal Intestine Small	intestine
48	chr7:56023800-56031600	Weak transcription	A549	lung
49	chr7:56023800-56031800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:56024000-56031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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