Variant report

Variant	rs12287442
Chromosome Location	chr11:108462113-108462114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108367402..108370460-chr11:108461670..108466033,4	K562	blood:
2	chr11:108457153..108459438-chr11:108461120..108463498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178202	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11212717	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212721	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212722	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11212727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821686	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11823000	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11825512	0.85[ASN][1000 genomes]
rs11825762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271426	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12286270	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4754329	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7101637	0.85[ASN][1000 genomes]
rs7105408	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7127516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr11:108434600-108462400	Weak transcription	Gastric	stomach
2	chr11:108453600-108462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:108456400-108462800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:108457800-108462800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:108458200-108462600	Weak transcription	Stomach Mucosa	stomach
6	chr11:108458200-108463400	Weak transcription	Colonic Mucosa	Colon
7	chr11:108458400-108462600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:108459600-108462400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:108460000-108462600	Weak transcription	HSMMtube	muscle
10	chr11:108460000-108463400	Weak transcription	HSMM	muscle
11	chr11:108460200-108462200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:108460200-108463400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:108460400-108462800	Weak transcription	GM12878-XiMat	blood
14	chr11:108460600-108462400	Weak transcription	K562	blood
15	chr11:108460600-108462400	Enhancers	NHEK	skin
16	chr11:108460800-108462400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:108461600-108462600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:108461600-108463000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:108461600-108463400	Weak transcription	Psoas Muscle	Psoas
20	chr11:108462000-108462200	Flanking Active TSS	Placenta	Placenta
21	chr11:108462000-108462400	Enhancers	HMEC	breast

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