Variant report

Variant	rs10751157
Chromosome Location	chr11:71532994-71532995
allele	A/C
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	IRF4	chr11:71532322-71533001	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZNF705E	TF binding region
ENSG00000248671	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10751158	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10751166	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10792914	0.97[ASN][1000 genomes]
rs10792915	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10792951	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10792952	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10792964	0.93[ASN][1000 genomes]
rs10898614	0.91[ASN][1000 genomes]
rs10898618	0.87[ASN][1000 genomes]
rs10898623	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10898688	0.82[ASN][1000 genomes]
rs10898689	0.82[ASN][1000 genomes]
rs11234998	0.86[ASN][1000 genomes]
rs11235020	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11235021	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11235093	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235192	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11606005	0.93[ASN][1000 genomes]
rs12420318	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12801684	0.87[CHB][hapmap]
rs1806569	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1814920	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1945051	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2003240	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28378175	0.84[ASN][1000 genomes]
rs35755503	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36088573	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819237	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3862788	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3933398	0.89[ASN][1000 genomes]
rs4021274	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4122047	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4122048	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4245456	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4245457	0.89[ASN][1000 genomes]
rs4474464	0.87[ASN][1000 genomes]
rs4945257	0.81[ASN][1000 genomes]
rs4945263	0.87[ASN][1000 genomes]
rs4945295	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945297	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945298	0.81[AFR][1000 genomes]
rs4945299	0.92[ASN][1000 genomes]
rs61889010	0.92[ASN][1000 genomes]
rs6592327	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs6592335	0.82[ASN][1000 genomes]
rs6592357	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6592358	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592380	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102608	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107929	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7113408	0.90[ASN][1000 genomes]
rs7120359	0.88[ASN][1000 genomes]
rs7129417	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129769	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7944189	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9667193	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription 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	22 gene(s)	inside rSNPs	diseases
7	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv1054575	chr11:71352127-71536860	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1047568	chr11:71352127-71538991	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
16	nsv1049480	chr11:71363999-71533919	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv897905	chr11:71371354-71615727	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv1819073	chr11:71371742-71618164	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
19	nsv1038551	chr11:71379653-71533919	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	nsv897906	chr11:71386905-71543708	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
21	nsv897907	chr11:71386905-71549174	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	esv11723	chr11:71498860-71553549	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	esv1804003	chr11:71512115-71563035	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv2760190	chr11:71513455-71552665	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
25	esv11824	chr11:71515433-71603968	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
26	nsv8837	chr11:71517340-71559915	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
27	esv1794199	chr11:71517609-71550455	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
28	esv1803631	chr11:71521288-71560091	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10751157	FAM86C1	cis	Muscle Skeletal	GTEx
rs10751157	FAM86C1	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71532200-71533200	Enhancers	GM12878-XiMat	blood
2	chr11:71532600-71533000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:71532600-71533400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:71532800-71533200	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:71532800-71533200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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