Variant report

Variant	rs1949861
Chromosome Location	chr12:47556624-47556625
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	chr12:47556322..47559512-chr12:47571534..47574931,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10881059	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11833039	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11834555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58404650	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59082668	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61927713	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61927714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61927715	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61927717	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61927718	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47536000-47578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:47536200-47564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47541600-47558400	Weak transcription	NHEK	skin
4	chr12:47550400-47558000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:47550400-47558200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:47550400-47558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:47550400-47560000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:47550400-47562200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:47550600-47558200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:47550600-47558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:47550600-47558400	Weak transcription	Ovary	ovary
12	chr12:47550600-47558400	Weak transcription	Right Atrium	heart
13	chr12:47550600-47571800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
15	chr12:47550800-47557400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:47550800-47560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:47550800-47570000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:47550800-47570200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:47551200-47557400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:47551200-47557800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:47551200-47583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:47551400-47557600	Weak transcription	Pancreas	Pancrea
23	chr12:47551400-47567200	Weak transcription	Spleen	Spleen
24	chr12:47554600-47558400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:47554800-47579600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:47555000-47559800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:47555000-47565800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:47555000-47576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:47556200-47556800	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr12:47556200-47556800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:47556200-47557400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr12:47556200-47558600	Strong transcription	Primary B cells from cord blood	blood
33	chr12:47556600-47557400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:47556600-47558400	Weak transcription	Left Ventricle	heart
35	chr12:47556600-47560000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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