Variant report

Variant	rs7315047
Chromosome Location	chr12:39224561-39224562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39223144..39224945-chr12:39229587..39231926,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10876185	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1095571	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169878	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs11837377	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12422883	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12424244	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12425783	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12427196	0.98[ASN][1000 genomes]
rs12578804	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12580606	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs17126226	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs17126713	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs56989350	0.93[ASN][1000 genomes]
rs57950648	0.98[ASN][1000 genomes]
rs58235891	0.99[ASN][1000 genomes]
rs59843534	0.93[ASN][1000 genomes]
rs60409162	0.98[ASN][1000 genomes]
rs60863548	0.89[ASN][1000 genomes]
rs61636003	0.88[ASN][1000 genomes]
rs7138835	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs7297083	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs73084040	0.99[ASN][1000 genomes]
rs73084043	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73084050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084066	0.98[ASN][1000 genomes]
rs73084068	0.98[ASN][1000 genomes]
rs73089536	0.89[ASN][1000 genomes]
rs73089563	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73089574	0.99[ASN][1000 genomes]
rs7309194	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7954044	0.98[ASN][1000 genomes]
rs826836	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826837	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826842	0.89[JPT][hapmap]
rs851931	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs9943730	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:39205600-39229400	Weak transcription	HMEC	breast
6	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
8	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
10	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:39216000-39237400	Weak transcription	Hela-S3	cervix
13	chr12:39217600-39232800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:39219200-39242600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:39219400-39229000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:39221800-39227800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:39221800-39251800	Weak transcription	Liver	Liver
18	chr12:39223000-39227800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:39223600-39238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:39223800-39225800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:39224000-39241800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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