Variant report

Variant	rs12804368
Chromosome Location	chr11:101314463-101314464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:101210889..101216560-chr11:101311326..101315087,6	MCF-7	breast:
2	chr11:101195442..101202127-chr11:101308962..101315927,5	MCF-7	breast:
3	chr11:100997989..101001513-chr11:101311577..101317753,7	MCF-7	breast:
4	chr11:100903142..100906263-chr11:101312314..101315427,3	MCF-7	breast:
5	chr11:101223010..101225906-chr11:101312280..101315324,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082588	0.96[ASN][1000 genomes]
rs11224762	0.94[ASN][1000 genomes]
rs11224763	0.96[ASN][1000 genomes]
rs11224764	0.94[ASN][1000 genomes]
rs11224765	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224766	1.00[ASN][1000 genomes]
rs11224772	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11224773	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12276736	0.96[ASN][1000 genomes]
rs12786558	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12788461	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12791865	0.87[AMR][1000 genomes]
rs12795728	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12804391	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12805398	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4255512	0.98[ASN][1000 genomes]
rs4271356	0.96[ASN][1000 genomes]
rs7948940	0.98[ASN][1000 genomes]
rs7951897	0.92[ASN][1000 genomes]
rs7952146	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101302000-101316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:101309200-101314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:101311600-101315400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:101311600-101317600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:101311600-101319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:101311800-101315400	Enhancers	Ovary	ovary
7	chr11:101311800-101315400	Enhancers	Pancreas	Pancrea
8	chr11:101311800-101317400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:101312000-101318000	Enhancers	HSMM	muscle
10	chr11:101312000-101318800	Enhancers	NHLF	lung
11	chr11:101312200-101318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:101312400-101315200	Enhancers	Left Ventricle	heart
13	chr11:101312400-101315400	Enhancers	Spleen	Spleen
14	chr11:101312400-101317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:101312600-101315000	Weak transcription	Right Ventricle	heart
16	chr11:101312600-101315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:101312600-101316800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:101312600-101318400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:101312800-101316200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:101312800-101318600	Enhancers	Osteobl	bone
21	chr11:101313000-101314600	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:101313000-101315200	Weak transcription	HSMMtube	muscle
23	chr11:101313200-101314600	Weak transcription	Fetal Heart	heart
24	chr11:101313200-101316600	Weak transcription	NH-A	brain
25	chr11:101313400-101314800	Weak transcription	HMEC	breast
26	chr11:101313600-101316000	Enhancers	Stomach Mucosa	stomach
27	chr11:101313800-101314800	Weak transcription	A549	lung
28	chr11:101313800-101315200	Enhancers	Gastric	stomach
29	chr11:101314000-101314800	Weak transcription	Right Atrium	heart
30	chr11:101314000-101315200	Enhancers	Adipose Nuclei	Adipose
31	chr11:101314000-101315400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr11:101314200-101314600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:101314200-101314600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:101314200-101316400	Enhancers	Fetal Lung	lung
35	chr11:101314200-101316600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:101314200-101318400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:101314400-101315400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:101314400-101315400	Enhancers	Small Intestine	intestine
39	chr11:101314400-101321200	Enhancers	NHDF-Ad	bronchial
40	chr11:101314400-101352800	Weak transcription	Aorta	Aorta

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