Variant report

Variant	esv3354777
Chromosome Location	chr7:121663166-121664514
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	E2F4	chr7:121664080-121664364	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr7:121663985-121664107	HepG2	liver:	n/a	chr7:121664049-121664060 chr7:121664049-121664060 chr7:121664048-121664062
3	MAFK	chr7:121663959-121664107	HepG2	liver:	n/a	chr7:121664049-121664060 chr7:121664049-121664060 chr7:121664048-121664062
4	POLR2A	chr7:121664006-121664144	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PTPRZ1	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552802191	chr7:121663283-121663284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562066069	chr7:121663337-121663338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527956276	chr7:121663348-121663349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570833729	chr7:121663381-121663382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548003165	chr7:121663446-121663447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188160794	chr7:121663449-121663450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58253110	chr7:121663451-121663452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570947698	chr7:121663483-121663484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568304930	chr7:121663521-121663522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1206386	chr7:121663539-121663540	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201152267	chr7:121663550-121663551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372691690	chr7:121663558-121663559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370799147	chr7:121663559-121663560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533513392	chr7:121663577-121663578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572492365	chr7:121663578-121663579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575114248	chr7:121663579-121663580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532535768	chr7:121663608-121663609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1308846	chr7:121663618-121663619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528085927	chr7:121663703-121663704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550007549	chr7:121663731-121663732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13312622	chr7:121663770-121663771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201607941	chr7:121663780-121663781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191478580	chr7:121663825-121663826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10253127	chr7:121663831-121663832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71172160	chr7:121663832-121663833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530862374	chr7:121663904-121663905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72314401	chr7:121663905-121663906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532428418	chr7:121663906-121663907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113122008	chr7:121663917-121663918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368048437	chr7:121664014-121664015	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs535863340	chr7:121664018-121664019	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528616280	chr7:121664062-121664063	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs77976635	chr7:121664065-121664066	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs940423	chr7:121664103-121664104	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553975777	chr7:121664176-121664177	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576961075	chr7:121664183-121664184	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565430095	chr7:121664223-121664224	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536396644	chr7:121664247-121664248	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs148828436	chr7:121664260-121664261	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs533142090	chr7:121664297-121664298	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184359265	chr7:121664342-121664343	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs376609677	chr7:121664348-121664349	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Myxofibrosarcoma	20639860	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121634400-121706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:121652200-121679000	Weak transcription	NHEK	skin
4	chr7:121652400-121683200	Weak transcription	Brain Germinal Matrix	brain
5	chr7:121653800-121670200	Weak transcription	Fetal Brain Male	brain
6	chr7:121653800-121672600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:121653800-121673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:121654000-121664000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:121654000-121672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:121654000-121672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:121654000-121673200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:121654000-121675400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:121654000-121675600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:121654000-121679000	Weak transcription	Fetal Brain Female	brain
15	chr7:121654000-121679400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:121654200-121671200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:121655600-121699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:121660000-121664000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:121661800-121664000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:121662000-121664000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:121662200-121666600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:121663000-121663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:121663800-121705600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:121664000-121664600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:121664000-121665200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:121664000-121665400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:121664000-121669000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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