Variant report

Variant	rs1445325
Chromosome Location	chr11:27034437-27034438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:27015097..27016903-chr11:27033368..27035440,2	K562	blood:

Variant related genes	Relation type
ENSG00000176971	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10767589	0.85[ASN][1000 genomes]
rs10767591	0.87[ASN][1000 genomes]
rs10767592	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10767595	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs10835094	0.84[ASN][1000 genomes]
rs10835098	0.87[ASN][1000 genomes]
rs10835100	0.96[ASN][1000 genomes]
rs10835102	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11029780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11822126	0.85[ASN][1000 genomes]
rs12797934	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12801226	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1445317	0.82[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap]
rs1445322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445324	0.83[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6484257	0.86[ASN][1000 genomes]
rs7107938	0.80[CHB][hapmap]
rs7120837	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7939644	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916187	chr11:26576875-27328603	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949332	chr11:26935972-27223492	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897147	chr11:26983363-27258899	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1040964	chr11:26998213-27223388	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv540975	chr11:26998213-27223388	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv949575	chr11:27005687-27233359	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv533052	chr11:27006061-27225374	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv553912	chr11:27014032-27240951	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv467781	chr11:27019331-27240951	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv553913	chr11:27019331-27240951	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv897148	chr11:27026424-27071118	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv508619	chr11:27028494-27110734	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1445325	BBOX1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27028400-27038600	Weak transcription	Pancreas	Pancrea
2	chr11:27031600-27035600	Weak transcription	HMEC	breast
3	chr11:27032200-27036400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:27032200-27036600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:27033200-27035000	Enhancers	Brain Anterior Caudate	brain
6	chr11:27033200-27035000	Enhancers	Fetal Stomach	stomach
7	chr11:27033200-27035600	Enhancers	HSMMtube	muscle
8	chr11:27033200-27035800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:27033200-27036200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:27033200-27036600	Enhancers	Colon Smooth Muscle	Colon
11	chr11:27033400-27034800	Enhancers	Brain Hippocampus Middle	brain
12	chr11:27033400-27034800	Enhancers	Fetal Intestine Small	intestine
13	chr11:27033400-27035000	Enhancers	Fetal Intestine Large	intestine
14	chr11:27033400-27035000	Enhancers	Fetal Muscle Leg	muscle
15	chr11:27033400-27035000	Enhancers	Ovary	ovary
16	chr11:27033400-27035200	Enhancers	Stomach Smooth Muscle	stomach
17	chr11:27033400-27035600	Enhancers	NHLF	lung
18	chr11:27033400-27035800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:27033400-27036000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:27033400-27036000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:27033400-27036000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr11:27033400-27036000	Enhancers	Osteobl	bone
23	chr11:27033400-27036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:27033400-27036200	Enhancers	Fetal Heart	heart
25	chr11:27033600-27034600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:27033600-27035000	Enhancers	Fetal Brain Female	brain
27	chr11:27033600-27035600	Enhancers	Fetal Kidney	kidney
28	chr11:27033800-27035000	Enhancers	Brain Substantia Nigra	brain
29	chr11:27033800-27036400	Enhancers	Fetal Brain Male	brain
30	chr11:27034000-27035400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:27034200-27034800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:27034200-27034800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:27034200-27035400	Weak transcription	NHEK	skin
34	chr11:27034200-27036000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:27034200-27036000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:27034200-27037200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:27034400-27034600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:27034400-27034600	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:27034400-27035400	Weak transcription	NH-A	brain
40	chr11:27034400-27035400	Weak transcription	NHDF-Ad	bronchial
41	chr11:27034400-27035600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:27034400-27035600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:27034400-27035600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:27034400-27036000	Enhancers	Fetal Lung	lung

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