Variant report

Variant	rs1608825
Chromosome Location	chr12:47541146-47541147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47540570..47543353-chr12:47547169..47548960,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10881059	1.00[CEU][hapmap]
rs11829304	1.00[CEU][hapmap]
rs11834555	1.00[CEU][hapmap]
rs17097638	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[AMR][1000 genomes]
rs1949863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727019	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61927693	0.87[AMR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 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	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
2	chr12:47527000-47547800	Weak transcription	Ovary	ovary
3	chr12:47529600-47542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:47533400-47541800	Weak transcription	Osteobl	bone
5	chr12:47533600-47542200	Weak transcription	Spleen	Spleen
6	chr12:47533800-47542200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:47535800-47549600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:47535800-47554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:47536000-47549600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:47536000-47550000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:47536000-47550200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:47536000-47550200	Weak transcription	Aorta	Aorta
13	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:47536400-47549400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:47539200-47541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:47539400-47550000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:47540000-47544800	Weak transcription	Primary T cells from cord blood	blood
19	chr12:47540000-47545200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:47540000-47545200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:47540000-47549200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:47540000-47549200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:47541000-47541800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:47541000-47542400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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