Variant report

Variant	rs12881501
Chromosome Location	chr14:35503421-35503422
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	chr14:35500902..35503626-chr14:35810015..35811675,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10130702	0.86[ASN][1000 genomes]
rs10130877	0.86[ASN][1000 genomes]
rs10132452	0.82[ASN][1000 genomes]
rs10133628	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10135024	0.89[ASN][1000 genomes]
rs10135457	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10135654	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10143040	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10143749	0.88[ASN][1000 genomes]
rs10145490	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10147046	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10148463	0.84[ASN][1000 genomes]
rs10149083	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10151096	0.86[ASN][1000 genomes]
rs10151445	0.84[ASN][1000 genomes]
rs1028447	0.85[ASN][1000 genomes]
rs12433712	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12434719	0.86[ASN][1000 genomes]
rs12437158	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586945	0.86[ASN][1000 genomes]
rs12589238	0.86[ASN][1000 genomes]
rs12590905	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12878315	0.86[ASN][1000 genomes]
rs12878685	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12878970	0.85[ASN][1000 genomes]
rs12882728	0.85[ASN][1000 genomes]
rs12886340	0.83[ASN][1000 genomes]
rs12887073	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12887279	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12891283	0.86[ASN][1000 genomes]
rs12891473	0.86[ASN][1000 genomes]
rs17102982	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1955437	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2250579	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383691	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383692	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383694	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28373866	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28479817	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28627922	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28656938	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34793309	0.84[ASN][1000 genomes]
rs35523754	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35768136	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759549	0.86[ASN][1000 genomes]
rs4386037	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4981256	0.86[ASN][1000 genomes]
rs4981257	0.86[ASN][1000 genomes]
rs4982231	0.81[ASN][1000 genomes]
rs4982232	0.86[ASN][1000 genomes]
rs55670220	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57787567	0.82[ASN][1000 genomes]
rs6571691	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144898	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147346	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7154181	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7158547	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7159696	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72474105	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8004237	0.81[ASN][1000 genomes]
rs8005641	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8006578	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8006908	0.84[ASN][1000 genomes]
rs8009854	0.86[ASN][1000 genomes]
rs8012308	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8015059	0.86[ASN][1000 genomes]
rs8015200	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8017611	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018702	0.85[ASN][1000 genomes]
rs8018761	0.85[ASN][1000 genomes]
rs8020050	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8021502	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9322942	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv901605	chr14:35409214-35512335	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv901606	chr14:35449467-35512335	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
10	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS 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	52 gene(s)	inside rSNPs	diseases
12	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv901610	chr14:35470049-35509571	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
17	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv1239	chr14:35477657-35522987	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
19	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS 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	42 gene(s)	inside rSNPs	diseases
20	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
23	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 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	chr14:35454400-35509800	Weak transcription	Psoas Muscle	Psoas
2	chr14:35466000-35503800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:35467600-35503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:35480400-35504000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:35485800-35514800	Weak transcription	Right Ventricle	heart
6	chr14:35488600-35514200	Weak transcription	Small Intestine	intestine
7	chr14:35489000-35507200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:35490200-35514600	Weak transcription	NHLF	lung
9	chr14:35493800-35503800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:35496800-35514600	Weak transcription	HSMMtube	muscle
11	chr14:35498000-35514200	Weak transcription	Fetal Kidney	kidney
12	chr14:35498400-35505800	Weak transcription	HSMM	muscle
13	chr14:35498600-35514600	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:35499800-35504000	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr14:35500200-35504200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:35500400-35514200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:35500600-35503600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:35501000-35504000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:35501200-35503800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:35501600-35504000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:35501800-35503800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr14:35501800-35503800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:35501800-35514400	Weak transcription	NH-A	brain
24	chr14:35502000-35503600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:35502000-35504000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr14:35502200-35503800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:35502200-35504600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:35502400-35503600	Strong transcription	Fetal Lung	lung
29	chr14:35502400-35503600	ZNF genes & repeats	Dnd41	blood
30	chr14:35502400-35503800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr14:35502400-35503800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:35502400-35504600	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr14:35502600-35503600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr14:35502600-35503600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
35	chr14:35502600-35503600	Genic enhancers	Liver	Liver
36	chr14:35502600-35503600	Strong transcription	Brain Angular Gyrus	brain
37	chr14:35502600-35503600	ZNF genes & repeats	Fetal Thymus	thymus
38	chr14:35502600-35504000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:35502600-35504000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr14:35502600-35504000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr14:35502600-35504000	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr14:35502600-35504000	ZNF genes & repeats	A549	lung
43	chr14:35502800-35503800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr14:35502800-35503800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:35502800-35503800	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr14:35502800-35503800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr14:35502800-35503800	ZNF genes & repeats	Spleen	Spleen
48	chr14:35502800-35504000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr14:35502800-35504000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr14:35502800-35504200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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