Variant report

Variant	rs12467185
Chromosome Location	chr2:87037292-87037293
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:87035298..87037035-chr2:87037234..87038983,2	MCF-7	breast:
2	chr2:87037113..87040779-chr2:87041789..87043828,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153563	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10177148	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10201581	1.00[AFR][1000 genomes]
rs10207306	1.00[AFR][1000 genomes]
rs10207541	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10208436	1.00[AFR][1000 genomes]
rs12476889	1.00[AFR][1000 genomes]
rs12477946	0.85[AMR][1000 genomes]
rs13412314	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13413566	1.00[AFR][1000 genomes]
rs13416756	0.81[AMR][1000 genomes]
rs13430105	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28851847	1.00[AFR][1000 genomes]
rs28889570	1.00[AFR][1000 genomes]
rs7420475	1.00[AFR][1000 genomes]
rs7577266	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv10063	chr2:86940988-87084360	Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002420	chr2:86948835-87172715	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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
4	nsv874472	chr2:86961252-87071474	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1008817	chr2:86970406-87172715	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv14382	chr2:86972214-87174121	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv997982	chr2:86972834-87105864	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1007746	chr2:86972834-87172715	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv458585	chr2:86974318-87108211	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv582373	chr2:86974318-87108211	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1007307	chr2:86974563-87055214	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv535809	chr2:86974563-87055214	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1004572	chr2:86975514-87082883	Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv535811	chr2:86975514-87082883	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv532319	chr2:87024867-88005418	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
16	nsv961427	chr2:87032925-87059989	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:87034000-87037400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
2	chr2:87035600-87048800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:87036000-87037400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr2:87036200-87038400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr2:87036200-87040200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:87036400-87037400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr2:87036400-87037400	Bivalent Enhancer	Fetal Heart	heart
8	chr2:87036400-87037400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr2:87036400-87039200	Active TSS	Fetal Thymus	thymus
10	chr2:87036600-87037400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
11	chr2:87036800-87037400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:87037000-87037400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr2:87037000-87037400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
14	chr2:87037200-87037400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:87037200-87037400	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr2:87037200-87037400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
17	chr2:87037200-87037800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:87037200-87038000	Active TSS	Primary T cells from cord blood	blood
19	chr2:87037200-87038400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:87037200-87041000	Active TSS	Thymus	Thymus
21	chr2:87037200-87042400	Weak transcription	Dnd41	blood
22	chr2:87037200-87048000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:87037200-87048800	Weak transcription	Esophagus	oesophagus

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