Variant report

Variant	rs2508769
Chromosome Location	chr11:57046283-57046284
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	chr11:57044906..57046744-chr11:57078333..57080460,2	MCF-7	breast:
2	chr11:57044352..57046900-chr11:57092817..57094435,2	K562	blood:

Variant related genes	Relation type
ENSG00000149115	Chromatin interaction
ENSG00000254662	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12296071	1.00[AMR][1000 genomes]
rs1262323	1.00[AMR][1000 genomes]
rs2508771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2511025	0.83[AFR][1000 genomes]
rs2846040	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2846043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2846045	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2846046	0.87[AFR][1000 genomes]
rs2846047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2846048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2851723	0.83[AFR][1000 genomes]
rs2851724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs481516	1.00[AMR][1000 genomes]
rs499885	0.87[AFR][1000 genomes]
rs501160	1.00[AMR][1000 genomes]
rs546403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs558266	0.83[AFR][1000 genomes]
rs559168	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs578831	0.87[AFR][1000 genomes]
rs639248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs641550	1.00[AMR][1000 genomes]
rs652353	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs655402	0.87[AFR][1000 genomes]
rs656366	0.83[AFR][1000 genomes]
rs670919	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57042400-57046400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:57043000-57046400	Enhancers	Fetal Muscle Leg	muscle
3	chr11:57043000-57046400	Enhancers	Lung	lung
4	chr11:57043800-57046800	Enhancers	K562	blood
5	chr11:57044200-57048000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:57044200-57049000	Enhancers	Placenta	Placenta
7	chr11:57044800-57048400	Enhancers	HMEC	breast
8	chr11:57045000-57046400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:57045000-57046600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:57045000-57048200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57045000-57048200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:57045000-57048200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:57045200-57046600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:57045200-57046800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:57045400-57047800	Weak transcription	Aorta	Aorta
16	chr11:57045400-57048200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:57045800-57046400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:57045800-57046400	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:57045800-57046400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:57045800-57046600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:57045800-57046600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr11:57045800-57046600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr11:57045800-57046600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr11:57045800-57046600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:57045800-57046600	Enhancers	Adipose Nuclei	Adipose
26	chr11:57045800-57046600	Weak transcription	Fetal Intestine Large	intestine
27	chr11:57045800-57046600	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:57045800-57046800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:57045800-57046800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:57045800-57046800	Weak transcription	Psoas Muscle	Psoas
31	chr11:57045800-57046800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:57045800-57047400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:57045800-57047600	Enhancers	Hela-S3	cervix
34	chr11:57045800-57048000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:57045800-57048200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:57045800-57048200	Enhancers	HSMM	muscle
37	chr11:57045800-57048200	Enhancers	NHEK	skin
38	chr11:57045800-57048200	Enhancers	NHLF	lung
39	chr11:57045800-57048200	Enhancers	Osteobl	bone
40	chr11:57045800-57048400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:57045800-57048400	Enhancers	NHDF-Ad	bronchial
42	chr11:57045800-57050400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:57045800-57050600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:57045800-57051000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:57045800-57051200	Weak transcription	Esophagus	oesophagus
46	chr11:57045800-57054200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:57046000-57046400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:57046000-57046400	Enhancers	HUVEC	blood vessel
49	chr11:57046000-57046800	Weak transcription	NH-A	brain
50	chr11:57046000-57047000	Enhancers	A549	lung

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