Variant report

Variant	rs12894230
Chromosome Location	chr14:69067916-69067917
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	chr14:69065107..69068379-chr14:69069760..69071455,4	MCF-7	breast:
2	chr14:69067505..69070348-chr14:69070905..69074097,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12878761	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547012	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17829341	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2257111	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2257116	0.85[CEU][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36035347	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4531674	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4899246	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902604	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs59934413	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61985819	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61985820	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61985824	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61985825	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69060200-69068200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
3	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:69062200-69073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:69064400-69070800	Enhancers	Fetal Intestine Large	intestine
6	chr14:69065000-69068000	Enhancers	Fetal Stomach	stomach
7	chr14:69065200-69069000	Enhancers	Lung	lung
8	chr14:69065400-69068400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:69065400-69069000	Enhancers	Pancreas	Pancrea
10	chr14:69066000-69068200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69066000-69070600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:69066000-69070600	Enhancers	Fetal Intestine Small	intestine
13	chr14:69066000-69071200	Weak transcription	Esophagus	oesophagus
14	chr14:69066000-69073800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:69066200-69068200	Enhancers	HepG2	liver
16	chr14:69066200-69070200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:69066200-69070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:69066200-69070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:69066400-69068800	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:69066400-69072600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:69066400-69073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:69066600-69070000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:69066600-69070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:69066600-69070400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:69066600-69070800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:69066800-69068000	Weak transcription	Psoas Muscle	Psoas
27	chr14:69066800-69070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:69066800-69072200	Weak transcription	Brain Substantia Nigra	brain
29	chr14:69066800-69072200	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:69067000-69068800	Weak transcription	Gastric	stomach
31	chr14:69067000-69072800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:69067000-69074000	Weak transcription	Spleen	Spleen
33	chr14:69067200-69068600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr14:69067200-69069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:69067200-69070200	Weak transcription	Fetal Thymus	thymus
36	chr14:69067200-69072400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:69067200-69072600	Weak transcription	Colonic Mucosa	Colon
38	chr14:69067200-69072600	Weak transcription	Left Ventricle	heart
39	chr14:69067200-69072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:69067200-69072800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr14:69067200-69073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:69067200-69073400	Weak transcription	Fetal Lung	lung
43	chr14:69067200-69073400	Weak transcription	Right Ventricle	heart
44	chr14:69067200-69073400	Weak transcription	Stomach Mucosa	stomach
45	chr14:69067200-69073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:69067200-69074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:69067400-69068200	Enhancers	Brain Hippocampus Middle	brain
48	chr14:69067400-69070400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr14:69067400-69073800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:69067600-69068400	Enhancers	Primary neutrophils fromperipheralblood	blood

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