Variant report

Variant	rs760833
Chromosome Location	chr1:209781125-209781126
allele	C/T
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	EP300	chr1:209780748-209781225	GM12878	blood:	n/a	chr1:209780956-209780965
2	JUND	chr1:209780488-209781328	SK-N-SH	brain:	n/a	chr1:209780957-209780966 chr1:209780955-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
3	STAT3	chr1:209780714-209781386	MCF10A-Er-Src	breast:	n/a	chr1:209781034-209781045 chr1:209780957-209780966 chr1:209781036-209781044 chr1:209781016-209781027
4	JUND	chr1:209780813-209781129	HepG2	liver:	n/a	chr1:209780957-209780966 chr1:209780955-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
5	POLR2A	chr1:209780297-209781698	MCF10A-Er-Src	breast:	n/a	n/a
6	TBP	chr1:209780642-209781407	GM12878	blood:	n/a	n/a
7	USF2	chr1:209780743-209781428	GM12878	blood:	n/a	n/a
8	FOSL2	chr1:209780691-209781172	A549	lung:	n/a	chr1:209780957-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
9	RELA	chr1:209780710-209781480	GM19193	blood:	n/a	n/a
10	STAT3	chr1:209780774-209781313	MCF10A-Er-Src	breast:	n/a	chr1:209781034-209781045 chr1:209780957-209780966 chr1:209781036-209781044 chr1:209781016-209781027
11	FOS	chr1:209780634-209781183	MCF10A-Er-Src	breast:	n/a	chr1:209780957-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
12	STAT1	chr1:209780893-209781200	GM12878	blood:	n/a	chr1:209780957-209780966 chr1:209781036-209781044
13	FOS	chr1:209780435-209781398	MCF10A-Er-Src	breast:	n/a	chr1:209780957-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
14	EP300	chr1:209780550-209781559	GM12878	blood:	n/a	chr1:209780956-209780965
15	FOS	chr1:209780707-209781157	MCF10A-Er-Src	breast:	n/a	chr1:209780957-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
16	POLR2A	chr1:209781103-209781822	Hela-S3	cervix:	n/a	n/a
17	EBF1	chr1:209780532-209781547	GM12878	blood:	n/a	chr1:209780931-209780942
18	FOS	chr1:209780448-209781342	MCF10A-Er-Src	breast:	n/a	chr1:209780957-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
19	RELA	chr1:209780542-209781461	GM19099	blood:	n/a	n/a
20	FOSL2	chr1:209780564-209781202	SK-N-SH	brain:	n/a	chr1:209780957-209780966 chr1:209780956-209780965 chr1:209780958-209780965 chr1:209780956-209780966
21	TBL1XR1	chr1:209780797-209781350	GM12878	blood:	n/a	n/a
22	RCOR1	chr1:209780850-209781254	GM12878	blood:	n/a	n/a
23	STAT3	chr1:209780785-209781333	MCF10A-Er-Src	breast:	n/a	chr1:209781034-209781045 chr1:209780957-209780966 chr1:209781036-209781044 chr1:209781016-209781027
24	BATF	chr1:209780806-209781144	GM12878	blood:	n/a	chr1:209780957-209780968
25	MAX	chr1:209780955-209781543	GM12878	blood:	n/a	n/a
26	WRNIP1	chr1:209780591-209781381	GM12878	blood:	n/a	n/a
27	STAT3	chr1:209780839-209781136	GM12878	blood:	n/a	chr1:209781034-209781045 chr1:209780957-209780966 chr1:209781036-209781044 chr1:209781016-209781027
28	RELA	chr1:209780480-209781283	GM12891	blood:	n/a	n/a
29	BHLHE40	chr1:209780766-209781657	GM12878	blood:	n/a	n/a
30	ZNF143	chr1:209780627-209781265	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CAMK1G	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11119313	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12079523	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402938	0.88[LWK][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12408760	0.84[ASN][1000 genomes]
rs2235449	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2235452	0.92[TSI][hapmap]
rs2235453	0.88[LWK][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2235454	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2235455	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs35498535	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7533785	0.87[CHB][hapmap]
rs760832	0.91[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs9430004	0.87[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
2	chr1:209769800-209781200	Weak transcription	Spleen	Spleen
3	chr1:209771000-209787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:209772200-209783000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:209775600-209791400	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:209775800-209789800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:209776000-209790200	Weak transcription	Brain Germinal Matrix	brain
8	chr1:209776000-209791000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:209776800-209781200	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr1:209777800-209793000	Weak transcription	Ovary	ovary
11	chr1:209777800-209796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:209778400-209791400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:209778800-209781400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:209779400-209785800	Weak transcription	Fetal Stomach	stomach
15	chr1:209779600-209781200	Strong transcription	Fetal Lung	lung
16	chr1:209779600-209793400	Weak transcription	Thymus	Thymus
17	chr1:209780000-209781400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:209780200-209781600	Enhancers	Fetal Heart	heart
19	chr1:209780200-209781800	Enhancers	GM12878-XiMat	blood
20	chr1:209780200-209781800	Enhancers	NHEK	skin
21	chr1:209780200-209784000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:209780400-209781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:209780400-209781600	Enhancers	Osteobl	bone
24	chr1:209780400-209781800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:209780400-209781800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:209780400-209781800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:209780400-209781800	Enhancers	HMEC	breast
28	chr1:209780600-209781200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:209780600-209781200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:209780600-209781200	Enhancers	Fetal Intestine Small	intestine
31	chr1:209780600-209781400	Enhancers	Fetal Intestine Large	intestine
32	chr1:209780800-209791800	Weak transcription	Fetal Brain Male	brain
33	chr1:209781000-209781400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:209781000-209781400	Enhancers	A549	lung
35	chr1:209781000-209781600	Enhancers	Esophagus	oesophagus
36	chr1:209781000-209781800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:209781000-209782800	Weak transcription	HSMMtube	muscle

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