Variant report

Variant	rs542988
Chromosome Location	chr11:84120668-84120669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10501559	0.88[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17508652	0.88[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs2016830	0.88[CHB][hapmap]
rs3906479	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs4310638	0.88[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs4636699	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs488925	0.81[JPT][hapmap]
rs489716	0.91[CEU][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs4944487	0.82[ASN][1000 genomes]
rs500750	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs504196	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs517540	0.96[ASN][1000 genomes]
rs518248	0.91[EUR][1000 genomes]
rs567263	0.87[GIH][hapmap]
rs568789	0.89[GIH][hapmap]
rs606277	0.97[ASN][1000 genomes]
rs61897664	0.82[ASN][1000 genomes]
rs61897674	0.90[ASN][1000 genomes]
rs6592176	0.88[CHB][hapmap];0.95[CHD][hapmap]
rs684067	1.00[CHD][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs7115400	0.88[CHB][hapmap]
rs7127845	0.90[CHD][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1038641	chr11:83996453-84334045	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541103	chr11:83996453-84334045	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898031	chr11:84060342-84379671	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1047030	chr11:84067493-84187274	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1041755	chr11:84067493-84315623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv541104	chr11:84067493-84315623	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv817504	chr11:84070883-84301151	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1052925	chr11:84092727-84274689	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84119600-84121000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:84119600-84121000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:84119600-84121200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr11:84119600-84121400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:84119800-84120800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:84119800-84120800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:84119800-84121000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:84119800-84121000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:84119800-84121000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:84119800-84121000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:84119800-84121200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:84119800-84121400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:84119800-84121600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:84120000-84120800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr11:84120000-84120800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:84120000-84121200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:84120000-84121400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:84120200-84121200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:84120200-84121200	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:84120200-84132800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:84120400-84121200	Weak transcription	Brain Substantia Nigra	brain
22	chr11:84120600-84120800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:84120600-84121200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:84120600-84121600	Weak transcription	Brain Angular Gyrus	brain
25	chr11:84120600-84124200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:84120600-84124400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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