Variant report

Variant	esv1802808
Chromosome Location	chr7:127925827-127928589
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	CEBPB	chr7:127928259-127928550	IMR90	lung:	n/a	n/a
2	GATA3	chr7:127928376-127928448	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr7:127927308-127927457	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221429	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561846524	chr7:127925848-127925849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536996764	chr7:127925866-127925867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550524940	chr7:127925954-127925955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568938364	chr7:127925975-127925976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4731439	chr7:127925990-127925991	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551547001	chr7:127926026-127926027	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544448560	chr7:127926063-127926064	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533778311	chr7:127926116-127926117	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111771471	chr7:127926119-127926120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376471500	chr7:127926139-127926140	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193014150	chr7:127926144-127926145	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147377219	chr7:127926157-127926158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556461682	chr7:127926205-127926206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184857725	chr7:127926284-127926285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545433164	chr7:127926332-127926333	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116611573	chr7:127926342-127926343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560256484	chr7:127926488-127926489	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs572070026	chr7:127926490-127926491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558478919	chr7:127926520-127926521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561989231	chr7:127926537-127926538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188115775	chr7:127926598-127926599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550886955	chr7:127926621-127926622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562650998	chr7:127926623-127926624	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1982402	chr7:127926657-127926658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139600116	chr7:127926681-127926682	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566574565	chr7:127926712-127926713	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs533752102	chr7:127926744-127926745	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35504660	chr7:127926765-127926766	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544270446	chr7:127926778-127926779	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs144804295	chr7:127926801-127926802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538131710	chr7:127926848-127926849	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556864934	chr7:127926887-127926888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571501634	chr7:127926899-127926900	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376277671	chr7:127926903-127926904	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78972673	chr7:127926941-127926942	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6945442	chr7:127926970-127926971	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78031459	chr7:127926987-127926988	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147936937	chr7:127927015-127927016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183559468	chr7:127927024-127927025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189506291	chr7:127927036-127927037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375876750	chr7:127927067-127927068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397821674	chr7:127927077-127927078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576412187	chr7:127927079-127927080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530349557	chr7:127927097-127927098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374256739	chr7:127927124-127927125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540459782	chr7:127927126-127927127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2084652	chr7:127927172-127927173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs562780502	chr7:127927177-127927178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201290344	chr7:127927195-127927196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112521136	chr7:127927249-127927250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:127919800-127926400	Weak transcription	Liver	Liver
4	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
5	chr7:127920600-127938800	Weak transcription	Right Atrium	heart
6	chr7:127920600-127941000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:127920800-127931000	Weak transcription	Fetal Lung	lung
8	chr7:127921000-127926000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:127921400-127939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:127921600-127928400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:127921800-127926000	Weak transcription	Fetal Stomach	stomach
12	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:127922000-127926200	Weak transcription	HSMM	muscle
14	chr7:127922000-127940600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
16	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:127922200-127926000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:127922200-127926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:127922200-127926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:127922200-127927000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:127922200-127930800	Weak transcription	Brain Germinal Matrix	brain
22	chr7:127922200-127932600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
24	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:127922200-127943000	Weak transcription	Dnd41	blood
26	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:127922400-127932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:127923200-127929200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:127923800-127928400	Weak transcription	HSMMtube	muscle
31	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
32	chr7:127924000-127926000	Weak transcription	Aorta	Aorta
33	chr7:127924000-127940000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:127924200-127926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:127924400-127929200	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:127924400-127942200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:127924400-127942200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:127924600-127939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:127924600-127940600	Weak transcription	A549	lung
41	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
42	chr7:127925200-127927000	Strong transcription	Ovary	ovary
43	chr7:127925400-127926600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:127926000-127926200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr7:127926000-127926400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:127926000-127926600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:127926000-127926800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr7:127926000-127926800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:127926000-127927000	ZNF genes & repeats	Aorta	Aorta
50	chr7:127926000-127927000	Strong transcription	Fetal Stomach	stomach

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