Variant report

Variant	rs12295249
Chromosome Location	chr11:119806145-119806146
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	chr11:119793488..119796349-chr11:119804048..119806717,2	K562	blood:

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

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

rs_ID	r²[population]
rs10160771	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217587	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12272862	0.85[EUR][1000 genomes]
rs12277299	0.85[EUR][1000 genomes]
rs12278045	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12286715	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12294678	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12294978	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295555	0.85[EUR][1000 genomes]
rs1579885	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1944503	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34006113	0.85[EUR][1000 genomes]
rs34239965	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35462788	0.98[EUR][1000 genomes]
rs35503012	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35661813	0.84[EUR][1000 genomes]
rs35778099	0.85[EUR][1000 genomes]
rs55801969	0.85[EUR][1000 genomes]
rs61899022	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7115154	0.85[EUR][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	nsv1048084	chr11:119771748-119808864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1049086	chr11:119782056-119808864	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119803000-119809000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:119803600-119807400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:119804200-119806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:119805000-119807400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:119805400-119806800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:119805400-119807400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr11:119805400-119808200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:119805400-119809200	Enhancers	Brain Hippocampus Middle	brain
9	chr11:119805600-119806600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:119805600-119807200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:119805600-119807200	Enhancers	Brain Germinal Matrix	brain
12	chr11:119805600-119807200	Enhancers	Fetal Heart	heart
13	chr11:119805600-119807400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:119805600-119808400	Enhancers	Brain Anterior Caudate	brain
15	chr11:119805600-119809000	Enhancers	Brain Angular Gyrus	brain
16	chr11:119805600-119809800	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:119805800-119807400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:119805800-119807400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:119805800-119807600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:119805800-119809000	Enhancers	Brain Substantia Nigra	brain
21	chr11:119806000-119806800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:119806000-119806800	Enhancers	Fetal Brain Male	brain
23	chr11:119806000-119807400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:119806000-119807400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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