Variant report

Variant	rs12455455
Chromosome Location	chr18:13246846-13246847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:13246311..13247814-chr18:13538525..13540752,2	MCF-7	breast:
2	chr18:13222557..13225016-chr18:13245739..13247328,2	MCF-7	breast:
3	chr18:13243981..13246911-chr18:13539689..13542169,2	MCF-7	breast:
4	chr18:13246292..13248526-chr18:13256215..13258308,3	MCF-7	breast:
5	chr18:13246195..13248489-chr18:13263475..13266169,2	MCF-7	breast:
6	chr18:13215937..13222150-chr18:13244092..13248320,7	MCF-7	breast:
7	chr18:13246207..13249799-chr18:13421227..13425816,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction
ENSG00000267239	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12607576	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12969923	0.81[CEU][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs4797749	0.81[ASN][1000 genomes]
rs55962651	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56191278	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59835474	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62636871	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13223800-13259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr18:13224000-13259800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:13224400-13259800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr18:13233000-13260200	Weak transcription	Colonic Mucosa	Colon
5	chr18:13233400-13254000	Weak transcription	Spleen	Spleen
6	chr18:13233400-13259000	Weak transcription	Primary T cells from cord blood	blood
7	chr18:13236200-13258800	Weak transcription	Fetal Lung	lung
8	chr18:13237400-13258800	Weak transcription	Adipose Nuclei	Adipose
9	chr18:13237400-13258800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:13237800-13258800	Weak transcription	Colon Smooth Muscle	Colon
11	chr18:13239600-13255800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr18:13240200-13256000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:13240600-13252400	Weak transcription	Brain Hippocampus Middle	brain
14	chr18:13240600-13252600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:13243200-13260200	Weak transcription	Aorta	Aorta
16	chr18:13243600-13278200	Weak transcription	Dnd41	blood
17	chr18:13243800-13252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr18:13243800-13252800	Weak transcription	Fetal Stomach	stomach
19	chr18:13244800-13247200	Enhancers	Fetal Brain Female	brain
20	chr18:13245200-13247200	Enhancers	Fetal Heart	heart
21	chr18:13245400-13253000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr18:13245600-13247000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:13246000-13247600	Weak transcription	Brain Germinal Matrix	brain
24	chr18:13246000-13248600	Strong transcription	Thymus	Thymus
25	chr18:13246200-13247800	Enhancers	Liver	Liver
26	chr18:13246200-13249400	Strong transcription	Fetal Thymus	thymus
27	chr18:13246400-13252600	Weak transcription	Gastric	stomach
28	chr18:13246400-13252600	Weak transcription	Right Ventricle	heart
29	chr18:13246600-13250600	Weak transcription	Brain Anterior Caudate	brain
30	chr18:13246600-13252600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:13246600-13256200	Weak transcription	Psoas Muscle	Psoas
32	chr18:13246800-13252400	Weak transcription	Left Ventricle	heart
33	chr18:13246800-13252600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:13246800-13252600	Weak transcription	Fetal Brain Male	brain

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