Variant report

Variant	nsv437904
Chromosome Location	chr1:91790876-91801207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:91796654-91796720	GM13976	blood:	n/a	n/a
2	CTCF	chr1:91795401-91795471	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr1:91790961-91791051	IMR90	lung:	n/a	n/a
4	MAFK	chr1:91791139-91791148	K562	blood:	n/a	n/a
5	MAFK	chr1:91790908-91791083	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:91795241-91795472	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:91794094-91794096	K562	blood:	n/a	n/a
8	POLR2A	chr1:91795089-91795597	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:91794014-91794064	K562	blood:	n/a	n/a
10	POLR2A	chr1:91794128-91794525	Gliobla	brain:	n/a	n/a
11	POLR2A	chr1:91794421-91794526	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:91795121-91795499	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:91795118-91795157	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:91795276-91795328	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:91795259-91795579	K562	blood:	n/a	n/a
16	POLR2A	chr1:91795192-91795302	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:91795204-91795266	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:91795202-91795239	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:91794113-91794132	K562	blood:	n/a	n/a
20	POLR2A	chr1:91795354-91795466	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:91792084-91792155	ProgFib	skin:	n/a	n/a
22	TAL1	chr1:91795592-91795601	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:91786405..91788910-chr1:91799387..91801097,2	K562	blood:
2	chr1:91790980..91792779-chr1:91870013..91871774,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HFM1-2	chr1:91794395-91794494	NONHSAT004431

No data

Variant related genes	Relation type
FEN1P1	TF binding region
HFM1	TF binding region
ENSG00000162669	chromatin interactions

Extended variants
information (count: 341 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs281969	chr1:91790876-91790877	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542332115	chr1:91790887-91790888	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533010612	chr1:91790947-91790948	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563917228	chr1:91790948-91790949	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377157274	chr1:91790984-91790985	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115419641	chr1:91790992-91790993	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184508577	chr1:91790995-91790996	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs528754735	chr1:91791026-91791027	Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189063129	chr1:91791073-91791074	Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145419957	chr1:91791086-91791087	Active TSS Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373002298	chr1:91791128-91791129	Active TSS Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535215755	chr1:91791145-91791146	Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550260108	chr1:91791161-91791162	Active TSS Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377741987	chr1:91791245-91791246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566334880	chr1:91791302-91791303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568567898	chr1:91791326-91791327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539261270	chr1:91791425-91791426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113866735	chr1:91791444-91791445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76042116	chr1:91791499-91791500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs546473740	chr1:91791596-91791597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553131958	chr1:91791646-91791647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180813123	chr1:91791766-91791767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542197637	chr1:91791767-91791768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372931586	chr1:91791821-91791822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149205871	chr1:91791887-91791888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs172191	chr1:91791947-91791948	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs61798899	chr1:91792010-91792011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200182184	chr1:91792032-91792033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72968489	chr1:91792053-91792054	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540914703	chr1:91792058-91792059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369653790	chr1:91792116-91792117	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561577977	chr1:91792119-91792120	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528864435	chr1:91792150-91792151	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373151842	chr1:91792170-91792171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2893151	chr1:91792196-91792197	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562769892	chr1:91792202-91792203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568630623	chr1:91792212-91792213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2119251	chr1:91792214-91792215	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188642554	chr1:91792246-91792247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566647907	chr1:91792293-91792294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201697093	chr1:91792330-91792331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3036428	chr1:91792331-91792332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs151040344	chr1:91792332-91792333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs72510774	chr1:91792333-91792334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397736656	chr1:91792334-91792335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111417872	chr1:91792335-91792336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533888978	chr1:91792409-91792410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs281970	chr1:91792446-91792447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553474465	chr1:91792474-91792475	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs281971	chr1:91792528-91792529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91772800-91793800	Weak transcription	Left Ventricle	heart
2	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
3	chr1:91774800-91794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:91775000-91793800	Weak transcription	Pancreas	Pancrea
5	chr1:91775200-91794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:91776600-91793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:91777600-91794000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:91777800-91794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:91778000-91793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:91778000-91794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:91778000-91794000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:91778600-91793800	Weak transcription	Ovary	ovary
13	chr1:91779000-91793800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:91786200-91795000	Weak transcription	Psoas Muscle	Psoas
16	chr1:91788200-91793800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:91788800-91795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:91789000-91794000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:91790000-91793800	Weak transcription	Spleen	Spleen
21	chr1:91790400-91791000	Strong transcription	Fetal Stomach	stomach
22	chr1:91790600-91791000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:91790600-91791200	Strong transcription	Brain Germinal Matrix	brain
24	chr1:91790600-91791200	Strong transcription	Fetal Lung	lung
25	chr1:91790600-91791200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:91790600-91791200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:91790600-91791400	Strong transcription	Fetal Brain Female	brain
28	chr1:91790800-91791000	ZNF genes & repeats	Aorta	Aorta
29	chr1:91790800-91791200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:91790800-91791200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:91790800-91791200	Enhancers	HMEC	breast
32	chr1:91790800-91791400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr1:91790800-91793600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:91791000-91791200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:91791000-91793800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:91791000-91793800	Weak transcription	Fetal Stomach	stomach
37	chr1:91791000-91794200	Weak transcription	Aorta	Aorta
38	chr1:91791200-91792400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:91791200-91793800	Weak transcription	Brain Germinal Matrix	brain
40	chr1:91791200-91794000	Weak transcription	Fetal Lung	lung
41	chr1:91791200-91794200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:91791200-91803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:91791400-91793800	Weak transcription	Fetal Brain Female	brain
44	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:91792400-91792800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:91792400-91794000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:91792400-91794000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:91792800-91794000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:91792800-91796200	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:91793000-91797000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links