Variant report

Variant	rs7302876
Chromosome Location	chr12:46924600-46924601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46765368..46767336-chr12:46923589..46925660,2	K562	blood:
2	chr12:46923109..46925590-chr12:46988951..46990498,2	MCF-7	breast:
3	chr12:46916796..46918875-chr12:46924233..46926266,3	K562	blood:
4	chr12:46923809..46925445-chr12:46927619..46930546,2	K562	blood:
5	chr12:46922925..46925309-chr12:46926287..46929119,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10785631	0.84[EUR][1000 genomes]
rs10880975	0.84[EUR][1000 genomes]
rs10880976	0.84[EUR][1000 genomes]
rs10880977	0.84[EUR][1000 genomes]
rs10880980	0.98[EUR][1000 genomes]
rs11183497	0.85[CHB][hapmap]
rs11183507	0.84[EUR][1000 genomes]
rs11183524	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183536	0.86[EUR][1000 genomes]
rs11504523	0.84[EUR][1000 genomes]
rs11829502	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11830099	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11830501	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11831177	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11831920	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11831929	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11832316	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833393	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834607	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11835517	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11835974	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11836915	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11836940	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11837104	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12300125	0.86[EUR][1000 genomes]
rs12305921	0.85[CHB][hapmap]
rs12578813	0.84[EUR][1000 genomes]
rs12579089	0.84[EUR][1000 genomes]
rs12579348	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12579976	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12580092	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12580121	1.00[CHB][hapmap]
rs12580356	0.84[EUR][1000 genomes]
rs12580488	0.80[EUR][1000 genomes]
rs12581311	0.81[EUR][1000 genomes]
rs12581366	0.84[EUR][1000 genomes]
rs12582013	0.80[EUR][1000 genomes]
rs12582476	0.84[EUR][1000 genomes]
rs17096991	1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17096995	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17097002	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17097009	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17097022	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17121410	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17121412	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17594275	0.80[EUR][1000 genomes]
rs17611638	0.84[EUR][1000 genomes]
rs1946175	0.86[EUR][1000 genomes]
rs2042058	0.84[EUR][1000 genomes]
rs2193663	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2216439	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2408576	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2408577	0.86[EUR][1000 genomes]
rs2430937	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430939	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430940	0.86[EUR][1000 genomes]
rs2430941	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2430942	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430943	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430946	1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2430947	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471581	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2471583	0.98[EUR][1000 genomes]
rs2471588	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2471594	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471601	0.86[EUR][1000 genomes]
rs2471602	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471605	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471608	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471617	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471618	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28768973	0.86[EUR][1000 genomes]
rs2897969	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2909411	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2960450	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073924	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4604970	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768731	0.80[EUR][1000 genomes]
rs56152575	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56181923	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56271434	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56399247	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57158113	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57439008	0.84[EUR][1000 genomes]
rs57658610	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58449317	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58503088	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58813899	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59521025	0.84[EUR][1000 genomes]
rs59903937	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60191997	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60432604	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60669661	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60681792	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61072098	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61355826	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6582666	0.84[EUR][1000 genomes]
rs7138914	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295471	0.84[EUR][1000 genomes]
rs7308386	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310326	1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73290381	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73290402	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73291964	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73291976	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73291980	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73292000	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73292001	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73293911	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73293919	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74085431	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7488464	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs765707	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs766794	0.84[EUR][1000 genomes]
rs7976710	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9669050	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9783500	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46918000-46924800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:46918800-46925000	Weak transcription	NHEK	skin
3	chr12:46919000-46924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:46919200-46929800	Weak transcription	A549	lung
5	chr12:46919400-46929400	Weak transcription	Right Atrium	heart
6	chr12:46919800-46927600	Weak transcription	Fetal Heart	heart
7	chr12:46920000-46929600	Weak transcription	Left Ventricle	heart
8	chr12:46924000-46925400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:46924000-46926000	ZNF genes & repeats	Fetal Stomach	stomach
10	chr12:46924000-46926400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:46924200-46924600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:46924200-46925400	Enhancers	Right Ventricle	heart
13	chr12:46924200-46926000	Enhancers	HepG2	liver
14	chr12:46924400-46925800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:46924400-46926000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:46924600-46924800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:46924600-46924800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr12:46924600-46925600	ZNF genes & repeats	Thymus	Thymus
19	chr12:46924600-46925800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:46924600-46925800	ZNF genes & repeats	Dnd41	blood

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