Variant report

Variant	rs7125480
Chromosome Location	chr11:74306788-74306789
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10899012	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899013	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826567	0.83[AMR][1000 genomes]
rs12364155	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12801024	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34060848	1.00[ASN][1000 genomes]
rs34222102	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34702292	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34835838	0.98[ASN][1000 genomes]
rs35165052	0.82[ASN][1000 genomes]
rs36005373	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3741127	0.90[ASN][1000 genomes]
rs61901537	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61901538	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592573	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932731	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939226	0.97[ASN][1000 genomes]
rs7943504	0.81[AMR][1000 genomes]
rs7944514	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919663	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv897914	chr11:74266026-74327614	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv897915	chr11:74269817-74327614	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304400-74311000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74304400-74316200	Weak transcription	Aorta	Aorta
3	chr11:74304400-74345600	Weak transcription	Gastric	stomach
4	chr11:74304600-74308600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:74304600-74308600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:74304600-74308600	Weak transcription	Lung	lung
7	chr11:74304600-74308600	Weak transcription	Spleen	Spleen
8	chr11:74304600-74312200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:74304600-74313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:74304600-74316200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:74304600-74316200	Weak transcription	Ovary	ovary
12	chr11:74304600-74316400	Weak transcription	Small Intestine	intestine
13	chr11:74304600-74323600	Weak transcription	Brain Substantia Nigra	brain
14	chr11:74304600-74323600	Weak transcription	HSMMtube	muscle
15	chr11:74304600-74323800	Weak transcription	Brain Angular Gyrus	brain
16	chr11:74304600-74331400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:74304600-74345600	Weak transcription	Esophagus	oesophagus
18	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:74304800-74306800	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:74304800-74307200	Weak transcription	Fetal Kidney	kidney
21	chr11:74304800-74307400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:74304800-74307600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:74304800-74307600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:74304800-74307600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:74304800-74307600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:74304800-74307600	Weak transcription	Placenta	Placenta
27	chr11:74304800-74307600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:74304800-74307800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:74304800-74308200	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:74304800-74308200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:74304800-74308400	Weak transcription	Left Ventricle	heart
32	chr11:74304800-74308600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:74304800-74309400	Weak transcription	Adipose Nuclei	Adipose
34	chr11:74304800-74309400	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:74304800-74309400	Weak transcription	Right Ventricle	heart
36	chr11:74304800-74316200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:74304800-74316400	Weak transcription	Pancreas	Pancrea
38	chr11:74304800-74317200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:74304800-74317400	Weak transcription	HSMM	muscle
40	chr11:74304800-74323600	Weak transcription	Stomach Mucosa	stomach
41	chr11:74304800-74324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:74304800-74336200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:74304800-74357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
45	chr11:74305000-74307400	Weak transcription	Fetal Brain Female	brain
46	chr11:74305000-74307800	Weak transcription	Primary B cells from cord blood	blood
47	chr11:74305000-74307800	Weak transcription	Liver	Liver
48	chr11:74305000-74307800	Weak transcription	Fetal Brain Male	brain
49	chr11:74305000-74307800	Weak transcription	Fetal Intestine Large	intestine
50	chr11:74305000-74308200	Weak transcription	Placenta Amnion	Placenta Amnion

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