Variant report

Variant	rs12882703
Chromosome Location	chr14:35005079-35005080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
2	chr14:35003178..35006952-chr14:35007318..35009026,4	MCF-7	breast:
3	chr14:34933163..34934738-chr14:35003028..35005166,2	K562	blood:
4	chr14:35002309..35005186-chr14:35018776..35021150,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction
ENSG00000206596	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12050290	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12434523	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12588228	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588878	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589576	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12878227	0.81[EUR][1000 genomes]
rs12878854	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12885352	0.80[EUR][1000 genomes]
rs12894795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13826	0.82[EUR][1000 genomes]
rs28515732	0.81[EUR][1000 genomes]
rs34356189	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34437689	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35091031	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35194168	0.81[EUR][1000 genomes]
rs4368076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4592561	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55858014	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56801633	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61979674	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61981527	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981529	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158829	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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	chr14:34984400-35006600	Strong transcription	Fetal Muscle Leg	muscle
2	chr14:34984600-35005800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:34984800-35005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:34984800-35006600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:34984800-35006800	Strong transcription	Fetal Stomach	stomach
6	chr14:34985000-35005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:34985000-35005600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:34985000-35005800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:34985000-35005800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:34985000-35005800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr14:34985000-35006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:34985000-35006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:34985200-35005400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:34985200-35005600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:34985200-35005600	Strong transcription	Liver	Liver
16	chr14:34985200-35005800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:34985200-35006600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:34985200-35007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:34985400-35006200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:34985400-35006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:34985600-35005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:34986000-35006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:34986600-35008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:34987200-35005400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:34987200-35005400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:34987200-35006800	Strong transcription	Fetal Thymus	thymus
27	chr14:34987200-35007000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr14:34987200-35007000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:34988000-35008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:34988400-35006600	Weak transcription	NHLF	lung
31	chr14:34989200-35008000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:34989400-35005600	Strong transcription	Fetal Brain Female	brain
33	chr14:34989400-35006800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:34990200-35005600	Strong transcription	HepG2	liver
35	chr14:34990400-35005800	Strong transcription	Fetal Intestine Large	intestine
36	chr14:34991600-35005600	Strong transcription	Osteobl	bone
37	chr14:34992200-35008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:34992400-35006000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr14:34993600-35006800	Strong transcription	Placenta	Placenta
40	chr14:34994000-35006600	Weak transcription	Psoas Muscle	Psoas
41	chr14:34994600-35006600	Weak transcription	K562	blood
42	chr14:34994600-35006800	Weak transcription	Stomach Mucosa	stomach
43	chr14:34994800-35006400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:34994800-35006600	Weak transcription	Fetal Heart	heart
45	chr14:34995000-35006200	Strong transcription	Fetal Intestine Small	intestine
46	chr14:34995000-35006800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:34997000-35006800	Weak transcription	HMEC	breast
48	chr14:34997200-35006800	Weak transcription	Colonic Mucosa	Colon
49	chr14:34997400-35006600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:34997400-35006600	Weak transcription	Fetal Brain Male	brain

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