Variant report

Variant	rs12101257
Chromosome Location	chr14:65545940-65545941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65542480..65545199-chr14:65545922..65548656,2	MCF-7	breast:
2	chr14:65540391..65543232-chr14:65544493..65546797,2	K562	blood:
3	chr14:65536598..65540126-chr14:65544399..65547466,3	MCF-7	breast:
4	chr14:65544997..65548177-chr14:65565453..65571553,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125952	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10130037	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10142987	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs11626796	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs11628273	0.83[YRI][hapmap]
rs1256415	0.92[ASN][1000 genomes]
rs1256416	0.83[JPT][hapmap]
rs12588412	0.96[ASN][1000 genomes]
rs12590701	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1262269	0.82[ASN][1000 genomes]
rs12895232	0.93[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1953230	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs1953231	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs1953233	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs1957947	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2225676	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs2277500	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs2781371	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs28648456	0.84[AFR][1000 genomes]
rs7151350	0.93[ASN][1000 genomes]
rs7152879	0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7153893	0.83[CHB][hapmap]
rs8011293	1.00[CEU][hapmap]
rs945013	0.83[CHB][hapmap];0.80[YRI][hapmap]
rs945014	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:65527800-65553600	Strong transcription	Dnd41	blood
3	chr14:65528800-65555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:65530000-65553000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:65534000-65553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:65534600-65546000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:65534800-65553400	Strong transcription	Thymus	Thymus
8	chr14:65535600-65547000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:65536000-65553600	Strong transcription	Fetal Thymus	thymus
10	chr14:65538600-65547000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:65538600-65547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:65538800-65553600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:65538800-65562000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:65539000-65551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:65539200-65548800	Strong transcription	NHEK	skin
17	chr14:65539200-65550800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:65539200-65551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:65539400-65551000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:65539400-65552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:65539600-65547200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:65539600-65547400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:65539800-65547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:65539800-65547400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:65539800-65553200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:65540000-65546000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:65540400-65548000	Strong transcription	Osteobl	bone
29	chr14:65541000-65551600	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr14:65541600-65551000	Strong transcription	NH-A	brain
31	chr14:65541600-65552400	Strong transcription	Hela-S3	cervix
32	chr14:65541800-65546000	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:65541800-65546000	Weak transcription	Small Intestine	intestine
34	chr14:65541800-65546200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:65541800-65549800	Strong transcription	HepG2	liver
36	chr14:65542000-65546600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:65542000-65547400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr14:65542000-65548800	Strong transcription	A549	lung
39	chr14:65542200-65546000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:65542200-65546600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:65542200-65547200	Strong transcription	Liver	Liver
42	chr14:65542200-65547400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:65542200-65547600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr14:65542200-65548000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:65542200-65548800	Strong transcription	HMEC	breast
46	chr14:65542400-65546000	Strong transcription	Gastric	stomach
47	chr14:65542400-65550400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:65542800-65550800	Strong transcription	Fetal Lung	lung
49	chr14:65543000-65546200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:65543000-65546200	Strong transcription	Ovary	ovary

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