Variant report

Variant	rs214660
Chromosome Location	chr12:47634283-47634284
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	chr12:47632571..47635332-chr12:47636827..47638575,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs214661	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835639	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs712100	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855143	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs855144	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855153	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855154	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];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	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
3	chr12:47629200-47643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47629400-47641200	Weak transcription	Aorta	Aorta
5	chr12:47630200-47635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:47630200-47638000	Weak transcription	Placenta	Placenta
7	chr12:47630200-47638400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:47630400-47636000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:47630400-47644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:47630400-47653600	Weak transcription	Primary B cells from cord blood	blood
11	chr12:47630800-47636200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:47631000-47635800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:47631600-47643000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:47632000-47635600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:47632000-47635600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:47632000-47636000	Weak transcription	K562	blood
17	chr12:47632000-47643000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:47632600-47644600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:47632600-47646000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:47632800-47636000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:47632800-47636200	Weak transcription	NHEK	skin
22	chr12:47633000-47635800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:47633000-47636000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:47633000-47636000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:47633000-47636200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:47633200-47634600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:47633200-47635600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:47633200-47635800	Weak transcription	Primary T cells from cord blood	blood
29	chr12:47633200-47641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:47633200-47653800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:47633400-47635800	Weak transcription	A549	lung
32	chr12:47633400-47643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:47634000-47634400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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