Variant report

Variant	rs17122918
Chromosome Location	chr12:48754784-48754785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48750287..48752260-chr12:48753845..48756384,2	MCF-7	breast:
2	chr12:48752580..48755236-chr12:48760694..48763424,2	K562	blood:
3	chr12:48753396..48755758-chr12:48761322..48764129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257763	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1004746	1.00[CEU][hapmap]
rs10506276	0.85[CEU][hapmap]
rs10506277	1.00[CEU][hapmap]
rs10506278	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10506279	0.88[EUR][1000 genomes]
rs10506280	0.91[EUR][1000 genomes]
rs11830378	0.85[CEU][hapmap]
rs11834109	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17122906	0.91[EUR][1000 genomes]
rs17122920	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122922	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17224674	1.00[CEU][hapmap]
rs17224828	0.85[CEU][hapmap]
rs17225198	0.85[CEU][hapmap]
rs17225261	1.00[CEU][hapmap]
rs17225751	1.00[CEU][hapmap]
rs17226359	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17226506	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17226723	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17823193	0.85[CEU][hapmap]
rs17823415	0.85[CEU][hapmap]
rs17823565	0.85[CEU][hapmap]
rs17824705	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17824989	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17825013	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs55684363	0.96[EUR][1000 genomes]
rs55763362	0.86[EUR][1000 genomes]
rs55817352	0.81[EUR][1000 genomes]
rs55854069	0.96[EUR][1000 genomes]
rs55920439	0.91[EUR][1000 genomes]
rs56084718	0.93[EUR][1000 genomes]
rs56110736	0.91[EUR][1000 genomes]
rs56271815	0.93[EUR][1000 genomes]
rs56378318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56383074	0.93[EUR][1000 genomes]
rs56389692	0.86[EUR][1000 genomes]
rs56412095	0.93[EUR][1000 genomes]
rs59724592	1.00[EUR][1000 genomes]
rs6580666	0.88[EUR][1000 genomes]
rs725283	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7297558	0.85[CEU][hapmap]
rs7301153	0.87[CEU][hapmap]
rs7301509	0.87[CEU][hapmap]
rs7307874	0.87[CEU][hapmap]
rs7310935	0.87[CEU][hapmap]
rs751315	0.93[EUR][1000 genomes]
rs751316	0.93[EUR][1000 genomes]
rs7966782	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48745400-48755800	Weak transcription	Ovary	ovary
2	chr12:48745400-48757200	Weak transcription	Right Ventricle	heart
3	chr12:48745600-48762400	Weak transcription	Aorta	Aorta
4	chr12:48746000-48756600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:48746200-48756800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:48746200-48757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:48746400-48757800	Weak transcription	Right Atrium	heart
8	chr12:48746400-48759400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:48746400-48760400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:48746400-48761400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:48746600-48755800	Weak transcription	Psoas Muscle	Psoas
12	chr12:48746600-48756400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:48746600-48762400	Weak transcription	Lung	lung
14	chr12:48746800-48755400	Weak transcription	K562	blood
15	chr12:48750800-48755800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:48752800-48755200	Strong transcription	Left Ventricle	heart
17	chr12:48753000-48756000	Strong transcription	Brain Hippocampus Middle	brain
18	chr12:48753800-48754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:48754200-48755800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:48754200-48758200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:48754600-48755400	Strong transcription	Adipose Nuclei	Adipose

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