Variant report

Variant	rs74126864
Chromosome Location	chr1:174666032-174666033
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	FOXA1	chr1:174666016-174666315	HepG2	liver:	n/a	n/a
2	FOXA2	chr1:174665980-174666251	HepG2	liver:	n/a	n/a
3	FOXA1	chr1:174665971-174666307	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RABGAP1L	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55736228	0.85[AFR][1000 genomes]
rs55833532	0.81[AFR][1000 genomes]
rs55896504	0.81[AFR][1000 genomes]
rs55926112	0.81[AFR][1000 genomes]
rs57753240	0.85[AFR][1000 genomes]
rs58401153	0.81[AFR][1000 genomes]
rs59323596	0.93[AFR][1000 genomes]
rs60002580	0.85[AFR][1000 genomes]
rs60449770	0.81[AFR][1000 genomes]
rs74126818	0.81[AFR][1000 genomes]
rs74126819	0.81[AFR][1000 genomes]
rs74126820	0.81[AFR][1000 genomes]
rs74126822	0.81[AFR][1000 genomes]
rs74126823	0.81[AFR][1000 genomes]
rs74126824	0.81[AFR][1000 genomes]
rs74126826	0.81[AFR][1000 genomes]
rs74126827	0.81[AFR][1000 genomes]
rs74126828	0.81[AFR][1000 genomes]
rs74126832	0.81[AFR][1000 genomes]
rs74126833	0.81[AFR][1000 genomes]
rs74126835	0.93[AFR][1000 genomes]
rs74126837	0.81[AFR][1000 genomes]
rs74126839	0.81[AFR][1000 genomes]
rs74126841	0.81[AFR][1000 genomes]
rs74126843	0.93[AFR][1000 genomes]
rs74126844	0.81[AFR][1000 genomes]
rs74126845	0.81[AFR][1000 genomes]
rs74126859	1.00[AFR][1000 genomes]
rs74126867	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174607600-174677800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174646800-174677600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:174646800-174680400	Weak transcription	Ovary	ovary
4	chr1:174649200-174668400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174651800-174673000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:174651800-174677400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:174652400-174677400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:174652400-174678800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:174653800-174669400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:174654400-174668200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:174657000-174669400	Weak transcription	GM12878-XiMat	blood
12	chr1:174660600-174677600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:174662000-174673400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:174665600-174668400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:174665800-174667000	Enhancers	HepG2	liver
16	chr1:174665800-174677400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:174665800-174680000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:174665800-174682600	Weak transcription	Left Ventricle	heart
19	chr1:174666000-174677800	Weak transcription	Primary T cells from cord blood	blood

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