Variant report

Variant	rs12067139
Chromosome Location	chr1:169254507-169254508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10047168	0.97[EUR][1000 genomes]
rs10800430	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10800436	0.84[EUR][1000 genomes]
rs10800443	0.94[EUR][1000 genomes]
rs10800445	0.88[EUR][1000 genomes]
rs10919110	0.82[EUR][1000 genomes]
rs10919131	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10919151	0.97[EUR][1000 genomes]
rs10919152	0.94[EUR][1000 genomes]
rs10919156	0.97[EUR][1000 genomes]
rs10919157	0.97[EUR][1000 genomes]
rs10919159	0.94[EUR][1000 genomes]
rs11487548	0.88[EUR][1000 genomes]
rs11805562	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11807896	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11810815	0.97[EUR][1000 genomes]
rs12058325	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061069	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061080	0.97[EUR][1000 genomes]
rs12062884	0.82[EUR][1000 genomes]
rs12063056	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063719	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12063863	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12065030	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067351	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12071224	0.82[EUR][1000 genomes]
rs12073439	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12076519	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12081030	0.94[EUR][1000 genomes]
rs12088672	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12089602	0.82[EUR][1000 genomes]
rs12091133	0.88[EUR][1000 genomes]
rs12092506	0.88[EUR][1000 genomes]
rs12092952	0.88[EUR][1000 genomes]
rs12094791	0.88[EUR][1000 genomes]
rs12097260	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12097682	0.97[EUR][1000 genomes]
rs12561922	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565852	0.88[EUR][1000 genomes]
rs12740226	0.82[EUR][1000 genomes]
rs2275300	0.97[EUR][1000 genomes]
rs2280257	0.94[EUR][1000 genomes]
rs35144581	0.82[EUR][1000 genomes]
rs3766088	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3766092	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41272453	0.88[EUR][1000 genomes]
rs57776592	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60011235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806984	0.97[ASN][1000 genomes]
rs7515326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9628661	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1000254	chr1:169203554-169271792	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1009170	chr1:169207940-169270995	Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1804244	chr1:169213979-169255892	Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv508637	chr1:169214920-169268078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv825376	chr1:169220418-169254683	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1815560	chr1:169226902-169256501	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv1815844	chr1:169226902-169256501	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv548163	chr1:169229144-169256501	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1004674	chr1:169233962-169271792	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2761410	chr1:169233974-169255402	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:169249200-169255800	Weak transcription	Fetal Heart	heart
4	chr1:169251400-169271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:169252000-169257200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:169252600-169256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:169252600-169256400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:169252800-169278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:169252800-169278800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:169253000-169254600	Weak transcription	HSMM	muscle
11	chr1:169253000-169264800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:169253200-169255000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:169253400-169256400	Weak transcription	HUVEC	blood vessel
14	chr1:169253400-169270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:169253600-169256400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:169253600-169256400	Weak transcription	NH-A	brain
17	chr1:169253600-169257400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
19	chr1:169253800-169256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:169253800-169256200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:169253800-169258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:169254000-169274800	Weak transcription	Ovary	ovary
23	chr1:169254200-169255000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:169254400-169254600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr1:169254400-169254600	ZNF genes & repeats	A549	lung
26	chr1:169254400-169254800	ZNF genes & repeats	Dnd41	blood
27	chr1:169254400-169263600	Weak transcription	Primary hematopoietic stem cells	blood

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