Variant report

Variant	rs7151482
Chromosome Location	chr14:34990688-34990689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:34990134..34992154-chr14:35005229..35008582,3	MCF-7	breast:
2	chr14:34988212..34991745-chr14:34992465..34994604,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10134534	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136826	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs10151832	0.86[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.92[TSI][hapmap]
rs10220690	0.81[CHD][hapmap];0.88[GIH][hapmap]
rs11156850	0.86[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs12147164	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432069	0.90[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12432539	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs12717240	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs12880885	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap]
rs12883317	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12885600	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12886486	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4304943	1.00[ASW][hapmap];0.92[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4403967	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4453379	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4562976	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4567613	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4598814	0.86[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap]
rs4981244	0.88[GIH][hapmap];0.85[JPT][hapmap]
rs6571659	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571661	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571662	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571664	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146283	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap]
rs7148513	0.86[ASN][1000 genomes]
rs7149200	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs7151142	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151774	0.86[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap]
rs7153635	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7154505	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158783	0.86[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap]
rs72673455	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8010374	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8012555	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013554	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8013954	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019311	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019739	0.83[AMR][1000 genomes];0.99[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7151482	FOXA1	cis	cerebellum	SCAN
rs7151482	EAPP	cis	parietal	SCAN

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

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

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