Variant report

Variant	rs12293228
Chromosome Location	chr11:17436951-17436952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:17436944-17437157	NB4	blood:	n/a	chr11:17437076-17437091 chr11:17437078-17437093 chr11:17437080-17437090 chr11:17437079-17437090 chr11:17437078-17437091 chr11:17437080-17437089 chr11:17437079-17437090 chr11:17437079-17437088 chr11:17437079-17437089 chr11:17437080-17437090

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17435065..17437385-chr11:17449381..17451000,2	MCF-7	breast:

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12280242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805036	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299640	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4148627	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148634	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926934	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932122	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939973	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944045	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs929235	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr11:17418600-17453600	Weak transcription	Fetal Brain Female	brain
2	chr11:17428200-17450200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:17430400-17439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:17432000-17437400	Enhancers	Pancreas	Pancrea
5	chr11:17434800-17440400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:17435000-17438600	Enhancers	Fetal Thymus	thymus
7	chr11:17435000-17440200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:17435000-17442000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:17435000-17442200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:17435000-17443200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:17435200-17460600	Weak transcription	Right Atrium	heart
12	chr11:17435800-17437000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:17435800-17437000	Enhancers	Thymus	Thymus
14	chr11:17435800-17437400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:17435800-17437600	Enhancers	Gastric	stomach
16	chr11:17435800-17438800	Enhancers	Psoas Muscle	Psoas
17	chr11:17436000-17437000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr11:17436000-17437600	Enhancers	Fetal Brain Male	brain
19	chr11:17436200-17437200	Weak transcription	Fetal Lung	lung
20	chr11:17436200-17437400	Enhancers	Left Ventricle	heart
21	chr11:17436200-17438600	Enhancers	Right Ventricle	heart
22	chr11:17436200-17438800	Enhancers	Fetal Muscle Leg	muscle
23	chr11:17436800-17437800	Flanking Active TSS	Dnd41	blood

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