Variant report

Variant	rs61927713
Chromosome Location	chr12:47550967-47550968
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	chr12:47533951..47536352-chr12:47547162..47551314,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10881059	1.00[ASN][1000 genomes]
rs11829304	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11833039	1.00[ASN][1000 genomes]
rs11834555	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17097638	0.80[EUR][1000 genomes]
rs1949861	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs58404650	1.00[ASN][1000 genomes]
rs59082668	1.00[ASN][1000 genomes]
rs59727019	0.93[EUR][1000 genomes]
rs61677310	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61927693	0.80[EUR][1000 genomes]
rs61927694	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61927714	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61927715	1.00[ASN][1000 genomes]
rs61927717	1.00[ASN][1000 genomes]
rs61927718	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47535800-47554600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47541600-47558400	Weak transcription	NHEK	skin
5	chr12:47548400-47551400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:47548800-47552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:47549000-47551000	Enhancers	Primary T cells from cord blood	blood
8	chr12:47549000-47551200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:47549200-47551200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:47549400-47551200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:47549400-47551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:47549400-47551400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:47549600-47551200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:47550400-47558000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:47550400-47558200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:47550400-47558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:47550400-47560000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:47550400-47562200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:47550600-47551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:47550600-47556200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:47550600-47556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:47550600-47558200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:47550600-47558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:47550600-47558400	Weak transcription	Ovary	ovary
25	chr12:47550600-47558400	Weak transcription	Right Atrium	heart
26	chr12:47550600-47571800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
28	chr12:47550800-47551200	Weak transcription	Pancreas	Pancrea
29	chr12:47550800-47551200	Weak transcription	Spleen	Spleen
30	chr12:47550800-47557400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:47550800-47560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:47550800-47570000	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:47550800-47570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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