Variant report

Variant	rs8012555
Chromosome Location	chr14:34989992-34989993
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	chr14:34988212..34991745-chr14:34992465..34994604,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10134534	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12147164	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432069	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12883317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12885600	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12886486	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4304943	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4453379	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4562976	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4567613	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571661	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571662	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571664	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148513	0.86[ASN][1000 genomes]
rs7151142	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151482	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153635	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72673455	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010374	1.00[ASN][1000 genomes]
rs8013554	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8013954	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019311	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9707709	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
14	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
17	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
18	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34980000-34990200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:34980600-34991200	Weak transcription	Fetal Kidney	kidney
3	chr14:34980600-34993800	Weak transcription	K562	blood
4	chr14:34981400-34992600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:34982600-34991600	Weak transcription	HSMM	muscle
6	chr14:34983200-34991800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:34983200-34991800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:34983800-34990400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:34983800-34991600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:34984400-35006600	Strong transcription	Fetal Muscle Leg	muscle
11	chr14:34984600-35005800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:34984800-34998200	Strong transcription	Brain Germinal Matrix	brain
13	chr14:34984800-35002600	Strong transcription	Ovary	ovary
14	chr14:34984800-35003800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:34984800-35004400	Strong transcription	Adipose Nuclei	Adipose
16	chr14:34984800-35005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:34984800-35006600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:34984800-35006800	Strong transcription	Fetal Stomach	stomach
19	chr14:34985000-35003800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:34985000-35003800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:34985000-35004000	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:34985000-35004800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:34985000-35005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:34985000-35005600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:34985000-35005800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr14:34985000-35005800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:34985000-35005800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:34985000-35006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:34985000-35006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:34985200-35003600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr14:34985200-35005400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:34985200-35005600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:34985200-35005600	Strong transcription	Liver	Liver
34	chr14:34985200-35005800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:34985200-35006600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:34985200-35007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:34985400-34997400	Strong transcription	Rectal Smooth Muscle	rectum
38	chr14:34985400-34998800	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:34985400-35002600	Strong transcription	Left Ventricle	heart
40	chr14:34985400-35003600	Strong transcription	Thymus	Thymus
41	chr14:34985400-35004000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:34985400-35006200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:34985400-35006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:34985600-35005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:34986000-34991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:34986000-34994000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:34986000-34998200	Strong transcription	Brain Hippocampus Middle	brain
48	chr14:34986000-35006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:34986200-34991600	Weak transcription	HUVEC	blood vessel
50	chr14:34986600-35000800	Strong transcription	Dnd41	blood

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