Variant report

Variant	rs55874815
Chromosome Location	chr12:121085998-121085999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:121085860-121086010	GM12873	blood:	n/a	n/a
2	CTCF	chr12:121085940-121086090	HVMF	connective:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121085752..121087777-chr12:121138546..121140930,2	MCF-7	breast:
2	chr12:121084960..121086596-chr12:121087744..121089271,2	K562	blood:
3	chr12:121084859..121087400-chr12:121088955..121093657,4	MCF-7	breast:
4	chr12:121085923..121088804-chr12:121121977..121126483,5	MCF-7	breast:
5	chr12:121083460..121086406-chr12:121125581..121127490,2	K562	blood:
6	chr12:121085668..121087390-chr12:121148054..121149834,2	MCF-7	breast:
7	chr12:121085946..121088715-chr12:121122622..121126229,3	K562	blood:
8	chr12:121079111..121082636-chr12:121084242..121087390,3	K562	blood:

No data

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000256008	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000157782	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2138250	1.00[ASN][1000 genomes]
rs2233673	1.00[ASN][1000 genomes]
rs34815312	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3850521	1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55645249	1.00[ASN][1000 genomes]
rs55647329	1.00[ASN][1000 genomes]
rs55660947	1.00[ASN][1000 genomes]
rs55914930	1.00[ASN][1000 genomes]
rs55941696	1.00[ASN][1000 genomes]
rs55970240	1.00[ASN][1000 genomes]
rs55980956	1.00[ASN][1000 genomes]
rs56084677	1.00[ASN][1000 genomes]
rs56163702	1.00[ASN][1000 genomes]
rs56175661	1.00[ASN][1000 genomes]
rs56178989	1.00[ASN][1000 genomes]
rs56183824	1.00[ASN][1000 genomes]
rs56231343	0.98[EUR][1000 genomes]
rs56284009	1.00[ASN][1000 genomes]
rs56366632	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391085	1.00[ASN][1000 genomes]
rs56401401	1.00[ASN][1000 genomes]
rs58235352	1.00[ASN][1000 genomes]
rs73213106	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214885	1.00[ASN][1000 genomes]
rs73222778	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222786	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222787	0.98[EUR][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73225023	1.00[ASN][1000 genomes]
rs73225093	1.00[ASN][1000 genomes]
rs73225101	1.00[ASN][1000 genomes]
rs73227016	1.00[ASN][1000 genomes]
rs73227022	1.00[ASN][1000 genomes]
rs73227026	1.00[ASN][1000 genomes]
rs73227027	1.00[ASN][1000 genomes]
rs73227029	1.00[ASN][1000 genomes]
rs73227033	1.00[ASN][1000 genomes]
rs73227036	1.00[ASN][1000 genomes]
rs73227038	1.00[ASN][1000 genomes]
rs73229118	1.00[ASN][1000 genomes]
rs73229126	1.00[ASN][1000 genomes]
rs73229149	1.00[ASN][1000 genomes]
rs73229151	1.00[ASN][1000 genomes]
rs73229157	1.00[ASN][1000 genomes]
rs73229160	1.00[ASN][1000 genomes]
rs73229162	1.00[ASN][1000 genomes]
rs73230347	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230349	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73230352	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121079600-121086800	Weak transcription	Right Atrium	heart
2	chr12:121084800-121086600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:121084800-121086600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:121085000-121086000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:121085000-121086000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:121085000-121086800	Weak transcription	Brain Anterior Caudate	brain
7	chr12:121085000-121086800	Weak transcription	Esophagus	oesophagus
8	chr12:121085200-121086600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:121085200-121086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121085200-121086800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:121085400-121086200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:121085400-121086600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:121085800-121086800	Enhancers	GM12878-XiMat	blood

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