Variant report

Variant	esv3382626
Chromosome Location	chr1:70380565-70383248
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	CTCF	chr1:70380740-70380890	AG09319	gingival:	n/a	n/a
2	MAX	chr1:70383120-70383308	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFIC	chr1:70381026-70381488	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:70380936-70380976	ProgFib	skin:	n/a	n/a
5	POLR2A	chr1:70380952-70381417	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr1:70380819-70380913	ProgFib	skin:	n/a	n/a
7	REST	chr1:70380648-70380999	PFSK-1	brain:	n/a	n/a
8	TCF12	chr1:70380944-70381554	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr1:70380922-70381393	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70356724..70359673-chr1:70379486..70382250,2	K562	blood:

Variant related genes	Relation type
PIN1P1	TF binding region

Extended variants
information (count: 146 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141204410	chr1:70380566-70380567	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570136011	chr1:70380585-70380586	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192872809	chr1:70380596-70380597	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552634831	chr1:70380597-70380598	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35906899	chr1:70380607-70380608	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566272159	chr1:70380609-70380610	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112465163	chr1:70380624-70380625	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138129412	chr1:70380631-70380632	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143664129	chr1:70380645-70380646	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185752218	chr1:70380647-70380648	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199899181	chr1:70380649-70380650	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557293079	chr1:70380651-70380652	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368602081	chr1:70380683-70380684	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577286004	chr1:70380684-70380685	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546251631	chr1:70380702-70380703	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs75616947	chr1:70380730-70380731	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189280551	chr1:70380791-70380792	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1938574	chr1:70380794-70380795	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575195775	chr1:70380826-70380827	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147186963	chr1:70380853-70380854	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531209218	chr1:70380877-70380878	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs139664918	chr1:70380907-70380908	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs180910437	chr1:70380949-70380950	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566676244	chr1:70380950-70380951	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1938575	chr1:70380965-70380966	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566183654	chr1:70380967-70380968	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs149321778	chr1:70381079-70381080	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs574808530	chr1:70381186-70381187	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs549125339	chr1:70381189-70381190	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs114565218	chr1:70381217-70381218	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538070969	chr1:70381238-70381239	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557750417	chr1:70381271-70381272	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs79845428	chr1:70381272-70381273	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569825473	chr1:70381310-70381311	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541988074	chr1:70381311-70381312	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs111688465	chr1:70381337-70381338	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12742811	chr1:70381343-70381344	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183934733	chr1:70381353-70381354	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs148496278	chr1:70381417-70381418	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs557133889	chr1:70381492-70381493	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs35287160	chr1:70381500-70381501	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562238598	chr1:70381505-70381506	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs34285074	chr1:70381508-70381509	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs34171910	chr1:70381531-70381532	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs34091648	chr1:70381533-70381534	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs34894052	chr1:70381556-70381557	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575735336	chr1:70381609-70381610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114704112	chr1:70381648-70381649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564437746	chr1:70381652-70381653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533449031	chr1:70381668-70381669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70377000-70381200	Enhancers	HUVEC	blood vessel
2	chr1:70377400-70380600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:70377800-70380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:70378400-70380600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:70379200-70380800	Enhancers	Ovary	ovary
6	chr1:70379200-70381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:70379200-70381000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:70379200-70381600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:70379200-70381600	Enhancers	Fetal Lung	lung
10	chr1:70379400-70380800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:70379400-70380800	Enhancers	Colon Smooth Muscle	Colon
12	chr1:70379400-70381000	Enhancers	Fetal Stomach	stomach
13	chr1:70379400-70381600	Enhancers	HSMMtube	muscle
14	chr1:70379400-70381600	Enhancers	Osteobl	bone
15	chr1:70379600-70380600	Weak transcription	Small Intestine	intestine
16	chr1:70379600-70381400	Enhancers	Brain Anterior Caudate	brain
17	chr1:70379600-70381400	Enhancers	Brain Hippocampus Middle	brain
18	chr1:70379800-70381600	Enhancers	Hela-S3	cervix
19	chr1:70380000-70381200	Enhancers	Adipose Nuclei	Adipose
20	chr1:70380000-70381200	Enhancers	Brain Angular Gyrus	brain
21	chr1:70380000-70381600	Enhancers	NHLF	lung
22	chr1:70380200-70380600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:70380200-70380600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:70380200-70380600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:70380200-70380600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:70380200-70381000	Enhancers	Fetal Muscle Leg	muscle
27	chr1:70380200-70381600	Enhancers	HSMM	muscle
28	chr1:70380400-70380600	Enhancers	NHDF-Ad	bronchial
29	chr1:70380400-70381000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:70380400-70381400	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:70380400-70381600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:70380600-70380800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:70380600-70381000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:70380600-70381000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:70380600-70381000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:70380600-70381000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:70380600-70381000	Enhancers	Aorta	Aorta
38	chr1:70380600-70381000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:70380600-70381000	Enhancers	Psoas Muscle	Psoas
40	chr1:70380600-70381000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr1:70380600-70381000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:70380600-70381200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:70380600-70381200	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:70380600-70381200	Enhancers	NH-A	brain
45	chr1:70380600-70381200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr1:70380600-70381600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:70380600-70381600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:70380800-70381000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:70380800-70381000	Flanking Active TSS	Ovary	ovary
50	chr1:70380800-70381000	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links