Variant report

Variant	esv3326133
Chromosome Location	chr7:128308341-128310889
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	BACH1	chr7:128308651-128308661	K562	blood:	n/a	n/a
2	CTCF	chr7:128309068-128309157	GM12878	blood:	n/a	n/a
3	CTCF	chr7:128309073-128309125	K562	blood:	n/a	n/a
4	CTCF	chr7:128309060-128309138	K562	blood:	n/a	n/a
5	E2F4	chr7:128308093-128308368	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr7:128310796-128310886	K562	blood:	n/a	n/a
7	JUND	chr7:128308465-128308468	HepG2	liver:	n/a	n/a
8	MAX	chr7:128308353-128308706	K562	blood:	n/a	chr7:128308509-128308522 chr7:128308510-128308521 chr7:128308511-128308521
9	MAZ	chr7:128309079-128309095	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:128308496-128308639	ProgFib	skin:	n/a	n/a
11	POLR2A	chr7:128309805-128309819	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:128308533-128308956	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:128308749-128308754	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:128309110-128309117	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:128308415-128309028	HepG2	liver:	n/a	n/a
16	POLR2A	chr7:128308584-128309116	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr7:128309137-128309139	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:128309806-128309815	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:128308488-128308522	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:128308792-128308795	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:128309120-128309128	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:128308477-128308541	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:128308384-128308707	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128306825..128310882-chr7:128311566..128316462,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241493	TF binding region
FAM71F2	TF binding region
ENSG00000205085	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143489158	chr7:128308349-128308350	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575162114	chr7:128308352-128308353	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538425939	chr7:128308382-128308383	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6467202	chr7:128308386-128308387	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530933173	chr7:128308422-128308423	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552596352	chr7:128308452-128308453	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185023640	chr7:128308515-128308516	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528508872	chr7:128308556-128308557	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6958786	chr7:128308589-128308590	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369770830	chr7:128308607-128308608	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs6978887	chr7:128308618-128308619	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs187082653	chr7:128308632-128308633	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191580835	chr7:128308651-128308652	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569785750	chr7:128308659-128308660	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536756318	chr7:128308747-128308748	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs558658074	chr7:128308760-128308761	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577007595	chr7:128308794-128308795	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs367844147	chr7:128308796-128308797	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7811083	chr7:128308813-128308814	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs113254583	chr7:128308817-128308818	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575223501	chr7:128308847-128308848	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs115360449	chr7:128308891-128308892	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563736982	chr7:128308892-128308893	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs183739346	chr7:128308939-128308940	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75541210	chr7:128309012-128309013	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188111957	chr7:128309115-128309116	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182324203	chr7:128309133-128309134	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73465136	chr7:128309164-128309165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs78662672	chr7:128309165-128309166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533447974	chr7:128309206-128309207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6945532	chr7:128309211-128309212	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs569840328	chr7:128309219-128309220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563890668	chr7:128309220-128309221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376173148	chr7:128309248-128309249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370258164	chr7:128309257-128309258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374029460	chr7:128309261-128309262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377134656	chr7:128309264-128309265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370830030	chr7:128309268-128309269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549420956	chr7:128309283-128309284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566353141	chr7:128309291-128309292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528120768	chr7:128309293-128309294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550939218	chr7:128309298-128309299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571045825	chr7:128309311-128309312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552062889	chr7:128309339-128309340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570593466	chr7:128309340-128309341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534667604	chr7:128309504-128309505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553023994	chr7:128309508-128309509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574442425	chr7:128309511-128309512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535786442	chr7:128309517-128309518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557678625	chr7:128309518-128309519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
9	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:128295000-128311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
13	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
14	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
17	chr7:128300200-128313200	Weak transcription	Right Atrium	heart
18	chr7:128301800-128310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:128302000-128308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:128302400-128312000	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
26	chr7:128302400-128337200	Weak transcription	Gastric	stomach
27	chr7:128302600-128310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:128302600-128312800	Weak transcription	Fetal Stomach	stomach
29	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
31	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:128303000-128312800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:128303600-128319400	Weak transcription	Fetal Brain Female	brain
34	chr7:128305000-128323000	Weak transcription	NHDF-Ad	bronchial
35	chr7:128305400-128310400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:128305400-128317600	Weak transcription	Osteobl	bone
37	chr7:128305800-128309600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:128305800-128311800	Weak transcription	HUVEC	blood vessel
39	chr7:128307200-128313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:128308400-128308800	Strong transcription	HSMM	muscle
41	chr7:128308400-128309000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:128308400-128323800	Weak transcription	A549	lung
43	chr7:128308800-128309000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:128308800-128310600	Weak transcription	HSMM	muscle
45	chr7:128309000-128323000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:128309600-128312000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:128309600-128312200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:128310000-128319600	Weak transcription	Adipose Nuclei	Adipose
49	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:128310400-128311200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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