Variant report

Variant	rs12321149
Chromosome Location	chr12:44399814-44399815
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10161163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10161301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506233	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182363	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182371	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182376	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182401	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182410	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12099550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12296939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297529	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297544	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12301421	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302401	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302578	1.00[ASN][1000 genomes]
rs12303163	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304783	1.00[ASN][1000 genomes]
rs12306873	1.00[CHB][hapmap]
rs12307644	1.00[CHB][hapmap]
rs12308508	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12308564	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12308750	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12309408	1.00[ASN][1000 genomes]
rs12310801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311153	1.00[ASN][1000 genomes]
rs12319385	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319439	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320155	1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs12321287	1.00[ASN][1000 genomes]
rs1388775	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1406786	1.00[CHB][hapmap]
rs17094016	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731424	1.00[CHB][hapmap]
rs2699993	1.00[CEU][hapmap]
rs28538835	0.87[ASN][1000 genomes]
rs28654762	1.00[ASN][1000 genomes]
rs57462004	1.00[ASN][1000 genomes]
rs58851540	1.00[ASN][1000 genomes]
rs59152420	0.87[ASN][1000 genomes]
rs73100825	0.87[ASN][1000 genomes]
rs73100834	0.87[ASN][1000 genomes]
rs73288025	1.00[ASN][1000 genomes]
rs73288036	1.00[ASN][1000 genomes]
rs73288054	1.00[ASN][1000 genomes]
rs73288073	1.00[ASN][1000 genomes]
rs73288075	1.00[ASN][1000 genomes]
rs73288080	1.00[ASN][1000 genomes]
rs73288085	1.00[ASN][1000 genomes]
rs73288089	1.00[ASN][1000 genomes]
rs73288095	1.00[ASN][1000 genomes]
rs73290203	1.00[ASN][1000 genomes]
rs73290206	1.00[ASN][1000 genomes]
rs73290208	1.00[ASN][1000 genomes]
rs73290213	1.00[ASN][1000 genomes]
rs73290217	1.00[ASN][1000 genomes]
rs73290223	1.00[ASN][1000 genomes]
rs73290224	1.00[ASN][1000 genomes]
rs73290225	1.00[ASN][1000 genomes]
rs73290228	1.00[ASN][1000 genomes]
rs73290230	1.00[ASN][1000 genomes]
rs7956766	1.00[CHB][hapmap]
rs7969724	1.00[CHB][hapmap]
rs963095	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
4	chr12:44394600-44400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44394600-44403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:44394800-44401800	Weak transcription	HMEC	breast
7	chr12:44395000-44401400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:44398000-44402400	Weak transcription	HSMM	muscle
9	chr12:44399200-44400200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:44399200-44401800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:44399400-44401000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:44399600-44400000	ZNF genes & repeats	Fetal Intestine Small	intestine

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