Variant report

Variant	rs73792122
Chromosome Location	chr4:3023529-3023530
allele	C/G
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	EBF1	chr4:3023382-3023768	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr4:3023330-3023661	GM12878	blood:	n/a	n/a
3	BHLHE40	chr4:3023356-3023643	GM12878	blood:	n/a	n/a
4	EBF1	chr4:3023433-3023731	GM12878	blood:	n/a	n/a
5	RUNX3	chr4:3023335-3023746	GM12878	blood:	n/a	n/a
6	BATF	chr4:3023308-3023730	GM12878	blood:	n/a	n/a
7	BATF	chr4:3023359-3023669	GM12878	blood:	n/a	n/a
8	MTA3	chr4:3022963-3023804	GM12878	blood:	n/a	n/a
9	RUNX3	chr4:3023290-3023737	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3022979..3027638-chr4:3028157..3033306,5	K562	blood:
2	chr4:3014192..3017069-chr4:3021177..3023631,3	MCF-7	breast:

Variant related genes	Relation type
GRK4	TF binding region
ENSG00000125388	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16843682	0.88[AFR][1000 genomes]
rs55676948	1.00[AFR][1000 genomes]
rs55909241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56204916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56315133	1.00[AFR][1000 genomes]
rs57551202	1.00[AFR][1000 genomes]
rs57960709	1.00[AFR][1000 genomes]
rs58112051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58555511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58936143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59004154	1.00[AMR][1000 genomes]
rs60480235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60514033	1.00[AFR][1000 genomes]
rs61377156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61747144	0.88[AFR][1000 genomes]
rs6830234	0.84[AFR][1000 genomes]
rs6837197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6840149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6852880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792109	1.00[AFR][1000 genomes]
rs73792110	1.00[AFR][1000 genomes]
rs73792112	1.00[AFR][1000 genomes]
rs73792116	1.00[AFR][1000 genomes]
rs73792119	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73792173	1.00[AMR][1000 genomes]
rs73792174	1.00[AMR][1000 genomes]
rs73794827	0.88[AFR][1000 genomes]
rs7657843	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1013440	chr4:2993130-3053503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2979600-3025000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:2983600-3032000	Weak transcription	Fetal Brain Female	brain
3	chr4:2991400-3024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:3003800-3024600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:3005800-3038600	Weak transcription	Right Ventricle	heart
6	chr4:3007600-3024600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:3011800-3039600	Weak transcription	Right Atrium	heart
8	chr4:3012800-3024800	Weak transcription	Aorta	Aorta
9	chr4:3014600-3026200	Weak transcription	Fetal Brain Male	brain
10	chr4:3014800-3025000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:3016200-3033200	Weak transcription	Pancreas	Pancrea
12	chr4:3019200-3039000	Weak transcription	Left Ventricle	heart
13	chr4:3019800-3024600	Weak transcription	HSMMtube	muscle
14	chr4:3021200-3043000	Weak transcription	Brain Germinal Matrix	brain
15	chr4:3021600-3024600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:3021800-3024600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:3022800-3023600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:3023200-3023600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:3023200-3024800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:3023400-3023600	Enhancers	GM12878-XiMat	blood

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