Variant report

Variant	rs11168313
Chromosome Location	chr12:48330448-48330449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48323727..48326429-chr12:48327724..48330731,3	K562	blood:
2	chr12:48330156..48331915-chr12:48335116..48337838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10783221	0.84[EUR][1000 genomes]
rs10875703	0.83[EUR][1000 genomes]
rs10875704	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875705	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10875706	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875707	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875708	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875709	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168307	0.84[EUR][1000 genomes]
rs11168308	0.83[EUR][1000 genomes]
rs11168310	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168311	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168314	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168315	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168316	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168318	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168319	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168320	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12306963	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12316950	0.83[EUR][1000 genomes]
rs12831006	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34381446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4411326	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920869	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61920870	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7300028	0.84[EUR][1000 genomes]
rs7300088	0.83[EUR][1000 genomes]
rs7300301	0.83[EUR][1000 genomes]
rs7303966	0.80[EUR][1000 genomes]
rs7305180	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7308216	0.84[EUR][1000 genomes]
rs7975675	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48329400-48331800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:48329400-48332200	Weak transcription	Left Ventricle	heart
4	chr12:48329400-48332200	Weak transcription	Small Intestine	intestine
5	chr12:48329400-48332400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:48329400-48332400	Weak transcription	Right Atrium	heart
7	chr12:48329400-48332400	Weak transcription	Right Ventricle	heart
8	chr12:48329400-48335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:48329600-48331600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:48329600-48331600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:48329600-48331600	Enhancers	HSMMtube	muscle
12	chr12:48329600-48331600	Weak transcription	NHLF	lung
13	chr12:48329600-48331800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:48329600-48331800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:48329600-48331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:48329600-48332000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:48329800-48331200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:48329800-48331200	Weak transcription	HSMM	muscle
19	chr12:48329800-48331600	Weak transcription	NHDF-Ad	bronchial
20	chr12:48329800-48331800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:48329800-48332200	Weak transcription	Placenta	Placenta
22	chr12:48329800-48332800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:48330000-48331200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:48330000-48332400	Weak transcription	Fetal Muscle Leg	muscle

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