Variant report

Variant	rs8011488
Chromosome Location	chr14:63950562-63950563
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	chr14:63941924..63943433-chr14:63948646..63951523,2	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]
rs10148960	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11850808	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12433708	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2064955	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28639496	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902230	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902231	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57670001	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6573517	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573521	0.88[EUR][1000 genomes]
rs72714243	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72714280	0.87[ASN][1000 genomes]
rs8012085	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8022113	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:63937800-63951200	Weak transcription	Fetal Lung	lung
4	chr14:63938600-63962800	Weak transcription	Fetal Stomach	stomach
5	chr14:63938600-63963800	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:63938800-63958800	Weak transcription	Osteobl	bone
7	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:63939600-63950600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:63939600-63951200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:63939800-63967200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:63940800-63950800	Weak transcription	NHEK	skin
12	chr14:63940800-63959000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:63941000-63953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:63941000-63953400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:63941200-63959200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:63941200-63959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:63941800-63959600	Weak transcription	Esophagus	oesophagus
18	chr14:63941800-63959600	Weak transcription	Pancreas	Pancrea
19	chr14:63942000-63950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:63944200-63954600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:63945000-63954200	Weak transcription	Primary B cells from cord blood	blood
22	chr14:63945600-63950800	Weak transcription	Primary T cells from cord blood	blood
23	chr14:63945600-63960000	Weak transcription	Fetal Thymus	thymus
24	chr14:63945800-63951000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:63945800-63953200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:63945800-63954800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:63946200-63950600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:63946200-63954400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:63946200-63966400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
31	chr14:63946400-63950800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:63946400-63951000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:63946600-63950800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:63946600-63950800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:63946600-63951400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:63946800-63959200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:63947400-63951800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:63947600-63951200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:63947800-63951200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:63947800-63951400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr14:63947800-63954200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:63947800-63954600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:63947800-63959600	Weak transcription	K562	blood
44	chr14:63948000-63954800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:63948400-63963200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:63948800-63951600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:63949000-63951400	Enhancers	HepG2	liver
48	chr14:63949400-63951000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:63949400-63951600	Enhancers	Adipose Nuclei	Adipose
50	chr14:63949400-63959400	Weak transcription	HSMM	muscle

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