Variant report

Variant	rs12147217
Chromosome Location	chr14:64468918-64468919
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	chr14:64459939..64462358-chr14:64466934..64469220,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10149728	0.84[CEU][hapmap];0.81[CHB][hapmap]
rs11158523	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255884	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255910	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255913	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1271567	0.81[CHB][hapmap]
rs1272156	0.82[CHB][hapmap]
rs12879623	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34584100	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35361329	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147282	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153680	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015191	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870023	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
3	chr14:64435200-64471800	Weak transcription	Hela-S3	cervix
4	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64452600-64479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:64457000-64470600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:64457000-64474600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:64457000-64480000	Strong transcription	Dnd41	blood
11	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
12	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:64457200-64470600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:64457200-64476000	Strong transcription	Fetal Brain Female	brain
15	chr14:64457200-64480200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
17	chr14:64459600-64471000	Weak transcription	Esophagus	oesophagus
18	chr14:64459600-64478800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:64459600-64481200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:64460000-64481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:64460000-64488000	Weak transcription	Pancreas	Pancrea
22	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
24	chr14:64461000-64470400	Weak transcription	Aorta	Aorta
25	chr14:64461400-64472200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:64461800-64472000	Strong transcription	Left Ventricle	heart
27	chr14:64462200-64469200	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:64462200-64472400	Strong transcription	Primary T cells from cord blood	blood
29	chr14:64462200-64473000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr14:64462400-64469000	Strong transcription	Fetal Kidney	kidney
31	chr14:64462600-64472200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:64462600-64472200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:64462600-64475800	Strong transcription	Fetal Intestine Large	intestine
34	chr14:64462600-64479000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:64462600-64479000	Strong transcription	Fetal Stomach	stomach
36	chr14:64462800-64470600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:64462800-64470600	Strong transcription	Ovary	ovary
38	chr14:64462800-64472000	Strong transcription	Adipose Nuclei	Adipose
39	chr14:64462800-64472000	Strong transcription	GM12878-XiMat	blood
40	chr14:64462800-64472400	Strong transcription	Fetal Lung	lung
41	chr14:64462800-64472800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:64462800-64476000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:64462800-64476200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:64463000-64470400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:64463000-64470400	Strong transcription	Primary B cells from cord blood	blood
46	chr14:64463000-64471800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:64463000-64471800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:64463000-64471800	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:64463200-64472000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:64463200-64491000	Weak transcription	Fetal Brain Male	brain

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