Variant report

Variant	rs8012178
Chromosome Location	chr14:39498686-39498687
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39457540..39460115-chr14:39498272..39500421,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10132034	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10132953	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10149829	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11157046	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12434607	0.82[EUR][1000 genomes]
rs12895329	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1950509	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1955917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2038357	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2180214	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2180217	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2180792	0.84[AFR][1000 genomes]
rs2252040	0.84[AFR][1000 genomes]
rs3899404	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4616209	0.85[EUR][1000 genomes]
rs4899139	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899140	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902294	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902402	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902419	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6571886	0.80[ASN][1000 genomes]
rs6571888	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571889	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571890	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571891	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571894	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571895	0.84[AMR][1000 genomes]
rs6571896	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7143480	0.80[ASN][1000 genomes]
rs7147760	0.83[EUR][1000 genomes]
rs7154585	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7157204	0.86[AMR][1000 genomes]
rs761804	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs761806	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs761807	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8003194	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003485	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8003807	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8004480	0.80[ASN][1000 genomes]
rs8010111	0.84[AFR][1000 genomes]
rs8011855	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8014021	0.93[ASN][1000 genomes]
rs8014255	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs8014677	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9322993	0.87[EUR][1000 genomes]
rs9671927	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs970623	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975591	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39473400-39498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:39480200-39499000	Weak transcription	NHDF-Ad	bronchial
3	chr14:39482800-39499200	Weak transcription	Right Ventricle	heart
4	chr14:39486800-39498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:39487000-39499400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:39487200-39508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:39491400-39499200	Weak transcription	NHEK	skin
8	chr14:39492000-39498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:39492600-39498800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:39493400-39498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:39493400-39505800	Weak transcription	Psoas Muscle	Psoas
12	chr14:39493600-39499000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:39493800-39499000	Weak transcription	NHLF	lung
14	chr14:39494000-39498800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:39494800-39499000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:39494800-39499000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:39495000-39499000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:39495200-39499000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:39495400-39498800	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:39495400-39499000	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:39495400-39499000	Weak transcription	Gastric	stomach
22	chr14:39495400-39499000	Weak transcription	Pancreas	Pancrea
23	chr14:39495400-39505000	Weak transcription	Small Intestine	intestine
24	chr14:39495400-39505800	Weak transcription	Fetal Kidney	kidney
25	chr14:39495400-39518200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:39495600-39498800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:39495600-39498800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:39495600-39499000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:39495600-39499000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:39495600-39499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:39495600-39499200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:39495600-39509800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:39495800-39498800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr14:39495800-39516000	Weak transcription	Stomach Mucosa	stomach
35	chr14:39496000-39514800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:39496000-39520400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:39496400-39498800	Weak transcription	Fetal Intestine Small	intestine
38	chr14:39496400-39499000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:39496400-39499000	Weak transcription	Liver	Liver
40	chr14:39496400-39499000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:39496400-39499600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:39496600-39498800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:39496600-39499000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:39496600-39499000	Weak transcription	Fetal Lung	lung
45	chr14:39496600-39499600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:39496600-39500000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:39496600-39507800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:39497000-39498800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:39497000-39498800	Weak transcription	Fetal Stomach	stomach
50	chr14:39497200-39498800	Weak transcription	Brain Anterior Caudate	brain

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