Variant report

Variant	rs12801737
Chromosome Location	chr11:107658870-107658871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10502098	0.88[EUR][1000 genomes]
rs10502099	0.88[EUR][1000 genomes]
rs10502100	0.88[EUR][1000 genomes]
rs11212361	0.97[EUR][1000 genomes]
rs12574687	0.88[EUR][1000 genomes]
rs12576861	0.88[EUR][1000 genomes]
rs12796583	0.88[EUR][1000 genomes]
rs12796590	0.88[EUR][1000 genomes]
rs12796978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798509	0.97[EUR][1000 genomes]
rs12799369	0.85[EUR][1000 genomes]
rs12799717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12799921	0.88[EUR][1000 genomes]
rs12800608	0.88[EUR][1000 genomes]
rs12801961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803756	0.88[EUR][1000 genomes]
rs12804204	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804236	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12804516	0.88[EUR][1000 genomes]
rs12804640	0.88[EUR][1000 genomes]
rs12808103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808961	0.88[EUR][1000 genomes]
rs17107441	0.88[EUR][1000 genomes]
rs17107492	0.88[EUR][1000 genomes]
rs17174388	0.88[EUR][1000 genomes]
rs1807943	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016916	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305282	0.88[EUR][1000 genomes]
rs2305283	0.88[EUR][1000 genomes]
rs2305284	0.88[EUR][1000 genomes]
rs2305285	0.88[EUR][1000 genomes]
rs2305286	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305288	0.88[EUR][1000 genomes]
rs34326206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34327782	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34375401	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34524653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552632	0.88[EUR][1000 genomes]
rs34558733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34793942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34963336	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35059935	0.94[EUR][1000 genomes]
rs35118584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35481830	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35745733	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753818	0.86[EUR][1000 genomes]
rs4754258	0.88[EUR][1000 genomes]
rs4754259	0.88[EUR][1000 genomes]
rs4754261	0.88[EUR][1000 genomes]
rs4754262	0.88[EUR][1000 genomes]
rs61066346	0.88[EUR][1000 genomes]
rs67735614	0.88[EUR][1000 genomes]
rs7108401	0.88[EUR][1000 genomes]
rs7108736	0.88[EUR][1000 genomes]
rs7109020	0.88[EUR][1000 genomes]
rs7109212	0.88[EUR][1000 genomes]
rs7109240	0.88[EUR][1000 genomes]
rs7122568	0.88[EUR][1000 genomes]
rs7123192	0.88[EUR][1000 genomes]
rs7125153	0.88[EUR][1000 genomes]
rs7126265	0.88[EUR][1000 genomes]
rs7129372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71464780	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71488273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488276	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488277	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71488279	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488280	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488281	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544962	0.81[EUR][1000 genomes]
rs7935515	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935688	0.88[EUR][1000 genomes]
rs7945702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	45 gene(s)	inside rSNPs	diseases
4	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv556378	chr11:107621538-107671626	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv556379	chr11:107627609-107671626	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv527748	chr11:107627852-107670228	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv556380	chr11:107644296-107671626	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
16	nsv556381	chr11:107644296-107684371	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv2760411	chr11:107646932-107672045	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv1036874	chr11:107648305-107679828	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
19	nsv520229	chr11:107649026-107670228	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
20	nsv898379	chr11:107649026-107673300	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
21	nsv468867	chr11:107649026-107697633	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
22	nsv556382	chr11:107649026-107697633	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
23	nsv556383	chr11:107651095-107671626	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
24	nsv556384	chr11:107651095-107672045	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
25	esv18098	chr11:107653021-107672290	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
26	esv2421534	chr11:107653081-107671601	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
27	nsv556385	chr11:107653081-107671626	ZNF genes & repeats Enhancers Strong transcription Genic enhancers Weak transcription Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
28	nsv556386	chr11:107653081-107672045	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
29	nsv898380	chr11:107653081-107673300	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
30	nsv1035229	chr11:107653731-107717190	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
31	nsv442244	chr11:107653743-107671188	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
32	esv2762944	chr11:107653743-107672045	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
33	nsv556387	chr11:107655949-107671626	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
34	nsv556388	chr11:107655949-107673300	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107652000-107665000	Weak transcription	A549	lung
2	chr11:107654000-107676800	Weak transcription	NH-A	brain
3	chr11:107655400-107662800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:107656200-107662200	Weak transcription	GM12878-XiMat	blood
5	chr11:107656600-107663000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:107656600-107673400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:107656600-107679800	Weak transcription	Osteobl	bone
8	chr11:107656800-107673800	Weak transcription	K562	blood
9	chr11:107657000-107662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:107657000-107662200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:107657000-107662600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:107658000-107659000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:107658200-107659200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:107658200-107659200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:107658200-107659400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:107658400-107659200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:107658600-107662600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:107658600-107665600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:107658800-107660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:107658800-107660800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:107658800-107662200	Weak transcription	NHEK	skin
22	chr11:107658800-107663200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:107658800-107679000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:107658800-107680600	Weak transcription	Small Intestine	intestine

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