Variant report

Variant	rs11228971
Chromosome Location	chr11:57019243-57019244
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	chr11:57018230..57020024-chr11:57091616..57094566,2	MCF-7	breast:
2	chr11:56891684..56895187-chr11:57015179..57019419,3	K562	blood:

Variant related genes	Relation type
ENSG00000254662	Chromatin interaction
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10792083	0.84[ASN][1000 genomes]
rs10792085	0.83[ASN][1000 genomes]
rs10896596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896601	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896602	0.83[ASN][1000 genomes]
rs11228988	0.84[ASN][1000 genomes]
rs11602501	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11604373	0.82[ASN][1000 genomes]
rs17573746	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1939496	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155231	0.88[EUR][1000 genomes]
rs2511026	0.84[EUR][1000 genomes]
rs2511029	0.93[EUR][1000 genomes]
rs2846049	0.83[EUR][1000 genomes]
rs2846051	0.92[EUR][1000 genomes]
rs3935069	0.91[ASN][1000 genomes]
rs4939129	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4939131	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4939134	0.82[AFR][1000 genomes]
rs5012051	0.82[EUR][1000 genomes]
rs522656	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs590240	0.94[EUR][1000 genomes]
rs7130020	0.91[ASN][1000 genomes]
rs7928905	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931298	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7936545	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7943761	0.84[ASN][1000 genomes]
rs7943915	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7948723	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[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	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
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57016400-57019400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:57016400-57019600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:57016400-57020800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:57016400-57020800	Enhancers	HMEC	breast
5	chr11:57017000-57020200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:57017000-57021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:57017000-57021000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:57017200-57019600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:57017200-57019600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:57017200-57023200	Weak transcription	HSMMtube	muscle
11	chr11:57017200-57026000	Weak transcription	Fetal Brain Male	brain
12	chr11:57017800-57020200	Weak transcription	NHEK	skin
13	chr11:57017800-57020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:57018000-57021200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57018200-57028800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:57018400-57019400	Enhancers	Liver	Liver
17	chr11:57018400-57019400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:57018400-57019600	Enhancers	Adipose Nuclei	Adipose
19	chr11:57018400-57019600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:57018600-57019600	Enhancers	Psoas Muscle	Psoas
21	chr11:57018800-57019400	Enhancers	Hela-S3	cervix
22	chr11:57018800-57019600	Enhancers	Fetal Muscle Leg	muscle
23	chr11:57019000-57019400	Bivalent Enhancer	Osteobl	bone
24	chr11:57019000-57019800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:57019200-57019400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
26	chr11:57019200-57019400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:57019200-57019400	Enhancers	Lung	lung
28	chr11:57019200-57019600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:57019200-57019600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:57019200-57019600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:57019200-57019600	Enhancers	A549	lung
32	chr11:57019200-57019600	Flanking Active TSS	K562	blood

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