Variant report

Variant	rs17311317
Chromosome Location	chr11:120462417-120462418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11599940	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11600436	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11601826	0.85[AMR][1000 genomes]
rs11602075	0.82[AMR][1000 genomes]
rs11602493	0.97[EUR][1000 genomes]
rs11603180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11824600	0.82[AMR][1000 genomes]
rs12279396	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1573789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17311310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17311324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3892497	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4278519	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs4297478	0.86[AMR][1000 genomes]
rs4500499	0.94[EUR][1000 genomes]
rs4561221	0.85[AMR][1000 genomes]
rs4936521	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4938818	0.96[EUR][1000 genomes]
rs61900897	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61900900	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73000621	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1054301	chr11:120396485-120465800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120437200-120468000	Weak transcription	Right Atrium	heart
2	chr11:120452400-120462600	Weak transcription	Fetal Lung	lung
3	chr11:120459800-120462800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120459800-120463200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:120460800-120467600	Weak transcription	Fetal Brain Male	brain
6	chr11:120461200-120462600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:120461200-120462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:120461400-120462600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:120461400-120462800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:120461400-120468200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:120461600-120462600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:120461600-120467800	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:120461800-120463400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:120462000-120462800	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr11:120462000-120463000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:120462000-120463200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120462000-120463200	Enhancers	Brain Germinal Matrix	brain
18	chr11:120462200-120462600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:120462200-120463000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:120462200-120467800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:120462400-120462600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:120462400-120462800	Enhancers	Fetal Brain Female	brain
23	chr11:120462400-120463200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:120462400-120463200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:120462400-120463400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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