Variant report

Variant	rs3809076
Chromosome Location	chr11:64482546-64482547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64482464..64484071-chr11:64488945..64491034,2	K562	blood:
2	chr11:64465967..64468821-chr11:64481900..64483746,2	K562	blood:
3	chr11:64482137..64483655-chr11:64489637..64491593,2	MCF-7	breast:
4	chr11:64478235..64481230-chr11:64481654..64484135,2	K562	blood:

Variant related genes	Relation type
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10400348	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792444	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10897524	0.92[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10897525	0.88[MEX][hapmap]
rs11231853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231859	0.89[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11231869	0.88[MEX][hapmap]
rs1143937	0.89[CEU][hapmap];0.88[MEX][hapmap]
rs1207181	0.89[EUR][1000 genomes]
rs12223914	0.83[EUR][1000 genomes]
rs12417551	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12575704	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1633462	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs17146121	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2003293	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073797	0.83[EUR][1000 genomes]
rs2073798	0.81[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs2230414	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2267918	0.89[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs2284301	0.89[CEU][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2375335	0.93[EUR][1000 genomes]
rs2959652	0.89[CEU][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3741398	0.89[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs474707	0.89[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs476037	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs477549	0.89[CEU][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs483962	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs487105	0.89[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs489192	0.89[CEU][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs490980	0.87[EUR][1000 genomes]
rs494128	0.92[EUR][1000 genomes]
rs496914	0.89[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.93[EUR][1000 genomes]
rs523200	0.89[CEU][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs523752	0.80[EUR][1000 genomes]
rs532747	0.92[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs547066	0.84[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs555974	0.83[EUR][1000 genomes]
rs569602	0.92[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs580374	0.93[EUR][1000 genomes]
rs58483071	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs589691	0.89[CEU][hapmap];0.81[GIH][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs593394	0.90[EUR][1000 genomes]
rs606458	0.89[CEU][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs607389	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs620006	0.92[EUR][1000 genomes]
rs624975	0.80[CEU][hapmap];0.88[MEX][hapmap]
rs625172	0.81[GIH][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs630966	0.83[EUR][1000 genomes]
rs633923	0.88[EUR][1000 genomes]
rs637332	0.89[CEU][hapmap];0.89[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs667237	0.89[EUR][1000 genomes]
rs669976	0.80[CEU][hapmap];0.88[MEX][hapmap]
rs674297	0.88[EUR][1000 genomes]
rs677298	0.89[CEU][hapmap];0.83[MEX][hapmap]
rs680273	0.89[CEU][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs683841	0.81[EUR][1000 genomes]
rs684720	0.81[EUR][1000 genomes]
rs686171	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs693235	0.80[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap]
rs72643567	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72643568	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7938455	0.85[EUR][1000 genomes]
rs7939965	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
14	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
17	nsv359	chr11:64477008-64502873	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
19	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
21	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	esv3436229	chr11:64478776-64483074	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs3809076	TMEM138	cis	parietal	SCAN
rs3809076	SF1	Cis_1M	lymphoblastoid	RTeQTL
rs3809076	SF1	cis	multi-tissue	Pritchard
rs3809076	PYGM	cis	cerebellum	SCAN
rs3809076	B3GNT1	cis	cerebellum	SCAN
rs3809076	ANKRD13D	cis	parietal	SCAN
rs3809076	LRRN4CL	cis	cerebellum	SCAN
rs3809076	TMEM138	cis	cerebellum	SCAN
rs3809076	MALAT1	cis	parietal	SCAN
rs3809076	CABP2	cis	parietal	SCAN
rs3809076	EHD1	cis	cerebellum	SCAN
rs3809076	POLA2	cis	cerebellum	SCAN
rs3809076	SF1	cis	lymphoblastoid	seeQTL
rs3809076	PYGM	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64480400-64489800	Enhancers	Fetal Brain Male	brain
2	chr11:64481200-64485000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr11:64481600-64482600	Enhancers	Brain Substantia Nigra	brain
4	chr11:64481600-64483000	Enhancers	Brain Anterior Caudate	brain
5	chr11:64481600-64484600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr11:64481600-64485000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:64481800-64483000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64481800-64484400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:64482000-64483400	Flanking Active TSS	Fetal Brain Female	brain
10	chr11:64482200-64483000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr11:64482200-64483000	Bivalent Enhancer	A549	lung
12	chr11:64482200-64485600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:64482400-64483200	Enhancers	GM12878-XiMat	blood

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