Variant report

Variant	rs57712008
Chromosome Location	chr11:35314854-35314855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:35308134..35310646-chr11:35314364..35317327,2	K562	blood:
2	chr11:35306755..35309230-chr11:35314818..35317645,2	MCF-7	breast:
3	chr11:35313446..35316192-chr11:35319134..35321109,2	MCF-7	breast:
4	chr11:35314441..35321132-chr11:35406351..35414318,9	MCF-7	breast:
5	chr11:35313589..35315807-chr11:35386696..35389378,2	MCF-7	breast:
6	chr11:35295688..35300934-chr11:35309144..35319083,18	MCF-7	breast:
7	chr11:35303346..35306323-chr11:35312472..35315129,3	MCF-7	breast:
8	chr11:35312703..35315109-chr11:35315239..35317407,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255004	Chromatin interaction
ENSG00000110436	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12270238	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12276085	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2281634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3888947	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108747	0.93[ASN][1000 genomes]
rs7122176	0.84[AFR][1000 genomes]
rs7131582	0.85[AFR][1000 genomes]
rs7944233	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv832120	chr11:35277410-35490304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35298000-35317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:35298200-35326000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:35299000-35326600	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:35299800-35328600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:35302400-35327000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:35302600-35329000	Weak transcription	Brain Angular Gyrus	brain
7	chr11:35304000-35324800	Weak transcription	Liver	Liver
8	chr11:35304600-35317000	Weak transcription	Pancreas	Pancrea
9	chr11:35304600-35326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:35308000-35324000	Weak transcription	HepG2	liver
11	chr11:35308600-35325800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:35308600-35326400	Weak transcription	Brain Anterior Caudate	brain
13	chr11:35309800-35318400	Weak transcription	Fetal Brain Female	brain
14	chr11:35310000-35325800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:35311800-35315200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:35312000-35317200	Weak transcription	HMEC	breast
17	chr11:35312000-35324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:35312600-35317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:35312600-35318800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:35312600-35324000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:35312800-35317000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:35312800-35318800	Weak transcription	NHDF-Ad	bronchial
23	chr11:35312800-35324000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:35313400-35321800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:35313600-35320200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:35314200-35315000	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:35314200-35329200	Weak transcription	Fetal Brain Male	brain
28	chr11:35314400-35315200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:35314400-35315200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:35314400-35318200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:35314600-35315000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:35314600-35315000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:35314600-35315000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:35314800-35316800	Weak transcription	Stomach Mucosa	stomach
35	chr11:35314800-35327000	Weak transcription	Fetal Stomach	stomach

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