Variant report

Variant	rs61927688
Chromosome Location	chr12:47507331-47507332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47505501..47507433-chr12:47508712..47510717,3	MCF-7	breast:
2	chr12:47498187..47500016-chr12:47505594..47507866,2	MCF-7	breast:
3	chr12:47501292..47504414-chr12:47505571..47508209,3	K562	blood:
4	chr12:47501963..47504414-chr12:47505571..47508209,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10219683	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1880601	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1917660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4570672	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4768774	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955924	0.85[EUR][1000 genomes]
rs7965849	0.85[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47492000-47508200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:47492200-47511600	Weak transcription	Lung	lung
3	chr12:47494400-47514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:47494400-47514600	Weak transcription	NH-A	brain
5	chr12:47497200-47508000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
7	chr12:47497600-47511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:47497600-47514600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:47497800-47514800	Weak transcription	Osteobl	bone
10	chr12:47498800-47511000	Weak transcription	Ovary	ovary
11	chr12:47499600-47514800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:47501800-47512600	Weak transcription	Spleen	Spleen
13	chr12:47502200-47508200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:47504200-47508400	Weak transcription	A549	lung
15	chr12:47505000-47508200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:47505600-47528800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:47506000-47508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:47506200-47510200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:47506200-47514800	Weak transcription	HSMM	muscle
22	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:47506400-47507400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:47506400-47509200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:47506400-47516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:47506800-47508000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:47506800-47509400	Strong transcription	Primary T cells from cord blood	blood
28	chr12:47506800-47528800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:47507000-47507600	Weak transcription	NHEK	skin
30	chr12:47507000-47507800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:47507000-47508000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:47507000-47514600	Weak transcription	HMEC	breast
33	chr12:47507200-47508000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:47507200-47508400	Strong transcription	HSMMtube	muscle
35	chr12:47507200-47509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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