Variant report

Variant	rs12290916
Chromosome Location	chr11:9140913-9140914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9128599..9130965-chr11:9139974..9142702,2	K562	blood:
2	chr11:9131737..9134967-chr11:9139541..9142848,3	MCF-7	breast:
3	chr11:9034413..9036493-chr11:9139269..9141678,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10840174	0.84[ASN][1000 genomes]
rs10840175	0.82[ASN][1000 genomes]
rs11042188	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11042189	0.88[ASN][1000 genomes]
rs12286943	0.81[AMR][1000 genomes]
rs1353729	0.88[EUR][1000 genomes]
rs16906742	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1827011	0.84[ASN][1000 genomes]
rs2291839	0.81[AMR][1000 genomes]
rs2316087	0.88[ASN][1000 genomes]
rs2742558	0.80[EUR][1000 genomes]
rs5011703	0.87[ASN][1000 genomes]
rs56216908	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7931872	0.81[ASN][1000 genomes]
rs7948219	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
2	chr11:9115000-9141800	Weak transcription	HSMM	muscle
3	chr11:9121800-9154800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:9125000-9142800	Weak transcription	Left Ventricle	heart
5	chr11:9130800-9153600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:9131200-9143000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:9132000-9153200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:9134000-9153000	Weak transcription	Brain Germinal Matrix	brain
9	chr11:9134000-9154000	Weak transcription	Osteobl	bone
10	chr11:9134200-9154000	Weak transcription	NHDF-Ad	bronchial
11	chr11:9134800-9142400	Weak transcription	Aorta	Aorta
12	chr11:9134800-9159000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
14	chr11:9135000-9142000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:9135200-9152600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:9135400-9143000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:9135600-9142400	Weak transcription	Fetal Stomach	stomach
18	chr11:9135600-9153000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:9136200-9141200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:9136400-9159200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:9136800-9143000	Weak transcription	Fetal Brain Female	brain
22	chr11:9137000-9142400	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:9137200-9145400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:9137200-9159000	Weak transcription	Fetal Heart	heart
25	chr11:9137800-9146200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:9138000-9142200	Weak transcription	K562	blood
27	chr11:9140600-9142400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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