Variant report

Variant	esv3414570
Chromosome Location	chr7:120994307-120994859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:120994405-120994861	HCT-116	colon:	n/a	n/a
2	POLR2A	chr7:120994443-120994643	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:120994410-120994696	HCT-116	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120982229..120984096-chr7:120992298..120995156,2	K562	blood:
2	chr7:120986190..120988228-chr7:120994808..120997127,2	K562	blood:
3	chr7:120993925..120996278-chr7:120998295..120999894,2	MCF-7	breast:
4	chr7:120994398..120996999-chr7:121076063..121078486,2	K562	blood:
5	chr7:120994379..120997968-chr7:121032765..121037049,4	K562	blood:

No data

Variant related genes	Relation type
FAM3C	TF binding region
ENSG00000196937	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200946116	chr7:120994398-120994399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573203276	chr7:120994412-120994413	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187818124	chr7:120994419-120994420	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191747307	chr7:120994455-120994456	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566653855	chr7:120994515-120994516	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531798748	chr7:120994553-120994554	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141463189	chr7:120994611-120994612	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562240529	chr7:120994625-120994626	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527674237	chr7:120994628-120994629	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2536180	chr7:120994673-120994674	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs566770817	chr7:120994733-120994734	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs60117506	chr7:120994751-120994752	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555790091	chr7:120994774-120994775	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552309763	chr7:120994775-120994776	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2536179	chr7:120994826-120994827	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs537917383	chr7:120994835-120994836	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2536178	chr7:120994836-120994837	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:84)

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
small cell lung cancer	20016488	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

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120970600-121016800	Weak transcription	Gastric	stomach
2	chr7:120970600-121025400	Weak transcription	Spleen	Spleen
3	chr7:120970800-121000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120973800-120998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:120977800-120999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:120978600-120994600	Weak transcription	Fetal Thymus	thymus
7	chr7:120978800-121017400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:120979400-120995400	Weak transcription	Fetal Heart	heart
9	chr7:120979800-121019400	Weak transcription	Thymus	Thymus
10	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:120980800-121019600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:120981000-121015200	Weak transcription	Pancreas	Pancrea
13	chr7:120983000-120996600	Weak transcription	Fetal Lung	lung
14	chr7:120983000-121009600	Weak transcription	Hela-S3	cervix
15	chr7:120983800-120994400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:120983800-121000200	Weak transcription	Fetal Kidney	kidney
17	chr7:120984000-121017600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:120984200-121001200	Weak transcription	NHLF	lung
19	chr7:120984200-121009800	Weak transcription	Fetal Brain Male	brain
20	chr7:120984200-121035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:120984800-120994600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:120984800-121009600	Weak transcription	A549	lung
23	chr7:120985000-120995000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:120985000-120995800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:120985000-121001200	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:120985000-121009600	Weak transcription	Small Intestine	intestine
27	chr7:120985200-121000000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:120985200-121013000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:120985400-120995800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:120986200-121029600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:120986400-120996200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:120986400-121026000	Weak transcription	Colonic Mucosa	Colon
33	chr7:120986400-121026000	Weak transcription	Psoas Muscle	Psoas
34	chr7:120987600-120995000	Weak transcription	Adipose Nuclei	Adipose
35	chr7:120987600-120995400	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:120987600-120995400	Weak transcription	NHEK	skin
37	chr7:120987600-120996600	Weak transcription	K562	blood
38	chr7:120987600-121003800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:120989200-120999000	Weak transcription	HepG2	liver
40	chr7:120989200-121015400	Weak transcription	Brain Anterior Caudate	brain
41	chr7:120989600-121016800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:120989800-120996400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:120990400-120994800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:120990400-120998800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:120990400-121002400	Strong transcription	NH-A	brain
46	chr7:120990400-121005000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:120990400-121005200	Strong transcription	Dnd41	blood
48	chr7:120990400-121006000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:120990400-121006200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:120990400-121007000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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