Variant report

Variant	rs1317313
Chromosome Location	chr11:120468470-120468471
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120467473..120469063-chr11:120472319..120475182,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17124064	1.00[AMR][1000 genomes]
rs17124081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57461612	1.00[AMR][1000 genomes]
rs61193571	1.00[EUR][1000 genomes]
rs73574448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73574451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7928621	1.00[EUR][1000 genomes]
rs7941346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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
2	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
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120463200-120470200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:120463200-120470400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:120463400-120470200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:120463400-120470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:120467800-120468600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120467800-120468600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr11:120467800-120468600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:120467800-120468800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:120467800-120471400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120468000-120468600	Enhancers	Right Atrium	heart
11	chr11:120468000-120468800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr11:120468200-120468600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:120468200-120468600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:120468200-120468600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:120468200-120468600	Active TSS	Colonic Mucosa	Colon
16	chr11:120468200-120468600	Active TSS	Fetal Lung	lung
17	chr11:120468200-120468600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr11:120468200-120468800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:120468200-120468800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:120468200-120468800	Active TSS	Brain Anterior Caudate	brain
21	chr11:120468200-120468800	Active TSS	Brain Hippocampus Middle	brain
22	chr11:120468200-120468800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
23	chr11:120468200-120468800	Flanking Active TSS	GM12878-XiMat	blood
24	chr11:120468400-120468600	Enhancers	Brain Substantia Nigra	brain
25	chr11:120468400-120468600	Flanking Active TSS	Fetal Brain Female	brain
26	chr11:120468400-120468800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr11:120468400-120468800	Flanking Active TSS	Fetal Brain Male	brain
28	chr11:120468400-120468800	Active TSS	Ovary	ovary
29	chr11:120468400-120468800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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