Variant report

Variant	rs73083787
Chromosome Location	chr1:212993137-212993138
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	FOXM1	chr1:212992969-212993515	GM12878	blood:	n/a	n/a
2	STAT3	chr1:212993095-212993584	GM12878	blood:	n/a	n/a
3	FOS	chr1:212993074-212993206	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr1:212992868-212993685	GM12878	blood:	n/a	n/a
5	CEBPB	chr1:212993070-212993264	A549	lung:	n/a	n/a
6	IKZF1	chr1:212993042-212993447	GM12878	blood:	n/a	n/a
7	EP300	chr1:212993078-212993411	GM12878	blood:	n/a	n/a
8	SMC3	chr1:212993042-212993395	GM12878	blood:	n/a	n/a
9	MEF2A	chr1:212993013-212993542	GM12878	blood:	n/a	n/a
10	CEBPB	chr1:212993048-212993209	HepG2	liver:	n/a	n/a
11	TBL1XR1	chr1:212993004-212993507	GM12878	blood:	n/a	n/a
12	POU2F2	chr1:212993045-212993382	GM12878	blood:	n/a	chr1:212993279-212993297 chr1:212993283-212993293 chr1:212993282-212993293 chr1:212993282-212993293
13	WRNIP1	chr1:212993103-212993230	GM12878	blood:	n/a	n/a
14	ELK1	chr1:212993078-212993535	GM12878	blood:	n/a	n/a
15	BATF	chr1:212992997-212993370	GM12878	blood:	n/a	chr1:212993201-212993212
16	EBF1	chr1:212993091-212993380	GM12878	blood:	n/a	n/a
17	RELA	chr1:212992950-212993385	GM12891	blood:	n/a	n/a
18	RELA	chr1:212992974-212993395	GM19099	blood:	n/a	n/a
19	EP300	chr1:212992882-212993338	HepG2	liver:	n/a	n/a
20	RELA	chr1:212993005-212993515	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212986725..212988338-chr1:212992887..212995652,2	K562	blood:
2	chr1:212969236..212971127-chr1:212991811..212994407,2	K562	blood:

Variant related genes	Relation type
ENSG00000236905	TF binding region
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs41296720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300021	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41300031	0.93[AFR][1000 genomes]
rs41307644	0.81[AFR][1000 genomes]
rs56697362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57219112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57638446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58103452	1.00[AFR][1000 genomes]
rs58411510	1.00[AFR][1000 genomes]
rs58860298	1.00[AMR][1000 genomes]
rs59645180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61307999	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61531628	1.00[AFR][1000 genomes]
rs73075730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075782	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73077871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079880	0.88[AFR][1000 genomes]
rs73079886	0.88[AFR][1000 genomes]
rs73079887	0.88[AFR][1000 genomes]
rs73079900	1.00[AFR][1000 genomes]
rs73079978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73079997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73080000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73081820	1.00[AFR][1000 genomes]
rs73081821	1.00[AFR][1000 genomes]
rs73081838	1.00[AFR][1000 genomes]
rs73081848	1.00[AFR][1000 genomes]
rs73081859	1.00[AFR][1000 genomes]
rs73081865	1.00[AFR][1000 genomes]
rs73081874	1.00[AFR][1000 genomes]
rs73081896	1.00[AFR][1000 genomes]
rs73083716	1.00[AFR][1000 genomes]
rs73083720	1.00[AFR][1000 genomes]
rs73083723	1.00[AFR][1000 genomes]
rs73084238	1.00[AMR][1000 genomes]
rs73084295	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
2	chr1:212972400-212993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:212975800-212997800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:212976200-212998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:212979200-212994200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:212979600-212993200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:212988400-212998800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:212988600-212993200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:212988600-212998400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:212988800-212993800	Weak transcription	Fetal Thymus	thymus
13	chr1:212989200-212993400	Enhancers	Fetal Intestine Small	intestine
14	chr1:212990400-212995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:212990800-212998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:212991000-212998800	Weak transcription	Stomach Mucosa	stomach
17	chr1:212992400-212993600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:212992400-212994000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:212992400-212994600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:212992400-212994800	Enhancers	HepG2	liver
21	chr1:212992600-212993200	Active TSS	Primary B cells from cord blood	blood
22	chr1:212992600-212993400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:212992600-212993600	Enhancers	Fetal Intestine Large	intestine
24	chr1:212992600-212993600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:212992600-212994000	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:212992800-212993200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:212992800-212993200	Flanking Active TSS	HUVEC	blood vessel
28	chr1:212992800-212993600	Flanking Active TSS	GM12878-XiMat	blood
29	chr1:212992800-212993800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:212993000-212993200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:212993000-212993400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:212993000-212993400	Active TSS	Primary hematopoietic stem cells	blood
33	chr1:212993000-212993400	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:212993000-212993400	Enhancers	A549	lung
35	chr1:212993000-212993600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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