Variant report

Variant	rs12229491
Chromosome Location	chr12:44255465-44255466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44199765..44202625-chr12:44253112..44255967,2	MCF-7	breast:
2	chr12:44249126..44251692-chr12:44253550..44257434,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11182298	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182300	1.00[ASN][1000 genomes]
rs11182301	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182305	0.97[ASN][1000 genomes]
rs11182308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182314	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11182323	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182331	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11182334	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11182336	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11182340	1.00[AFR][1000 genomes]
rs11182351	1.00[AFR][1000 genomes]
rs11182352	1.00[AFR][1000 genomes]
rs12227646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228658	1.00[ASN][1000 genomes]
rs12229940	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231953	0.88[ASN][1000 genomes]
rs17093804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3829807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
4	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
5	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:44252200-44260800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:44253000-44255600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:44253200-44257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44254000-44258200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:44254200-44256800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:44254400-44255600	Enhancers	HSMMtube	muscle
13	chr12:44254600-44255600	Enhancers	GM12878-XiMat	blood
14	chr12:44254800-44255800	Enhancers	Fetal Stomach	stomach
15	chr12:44254800-44256200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:44254800-44256600	Enhancers	Fetal Heart	heart
17	chr12:44255000-44255800	Weak transcription	Left Ventricle	heart
18	chr12:44255000-44255800	Flanking Active TSS	NHEK	skin
19	chr12:44255200-44255600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:44255200-44255600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:44255200-44255600	Flanking Active TSS	HMEC	breast
22	chr12:44255200-44255800	Weak transcription	Small Intestine	intestine
23	chr12:44255200-44255800	Enhancers	Stomach Smooth Muscle	stomach
24	chr12:44255200-44256400	Enhancers	Stomach Mucosa	stomach
25	chr12:44255400-44256000	Enhancers	Osteobl	bone
26	chr12:44255400-44256200	Enhancers	HSMM	muscle

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