Variant report

Variant	rs4694656
Chromosome Location	chr4:74811199-74811200
allele	A/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	KAP1	chr4:74810689-74811533	HEK293	kidney:	n/a	chr4:74811299-74811307

Variant related genes	Relation type
CXCL1P	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1025596	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1156553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1156554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs13117734	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1594229	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1594230	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs164615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168449	0.83[EUR][1000 genomes]
rs168450	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1821623	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs183028	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1836663	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs187080	0.91[CEU][hapmap]
rs187082	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs189511	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898002	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs191601	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs193263	0.83[EUR][1000 genomes]
rs2043537	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117721	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2437285	0.91[CEU][hapmap]
rs2457996	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2472655	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2564594	0.91[CEU][hapmap]
rs351997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352007	0.84[EUR][1000 genomes]
rs352009	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs352010	1.00[CHB][hapmap]
rs352013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352026	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs352027	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs352029	0.89[EUR][1000 genomes]
rs352045	0.81[CEU][hapmap]
rs377579	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs394408	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs409336	0.91[CEU][hapmap]
rs416046	0.90[CEU][hapmap]
rs416176	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420389	0.90[CEU][hapmap]
rs425535	0.81[CEU][hapmap]
rs426901	0.89[CEU][hapmap]
rs434988	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440676	0.90[CEU][hapmap]
rs442155	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs447206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs450373	0.91[CEU][hapmap]
rs487834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552582	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs599746	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs614822	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820253	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv1010272	chr4:74802868-74813081	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74810000-74811200	Enhancers	K562	blood
2	chr4:74810200-74811200	Enhancers	Lung	lung
3	chr4:74810200-74844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:74810600-74811200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr4:74810600-74811200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:74810600-74811400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr4:74810600-74815200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:74810800-74811200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr4:74810800-74811200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:74811000-74811200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr4:74811000-74811400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:74811000-74812800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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