Variant report

Variant	rs7949809
Chromosome Location	chr11:85251147-85251148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11822476	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17148336	1.00[ASN][1000 genomes]
rs17743426	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17743922	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810583	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17810916	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811011	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811094	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811130	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374650	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35751209	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61740616	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7105905	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116045	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7931722	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936028	0.85[EUR][1000 genomes]
rs7937018	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938015	1.00[ASN][1000 genomes]
rs7939547	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942847	1.00[ASN][1000 genomes]
rs7945053	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948145	0.94[AMR][1000 genomes]
rs7951775	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1050363	chr11:85163437-85293233	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541111	chr11:85163437-85293233	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv898046	chr11:85180409-85300458	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv976462	chr11:85227017-85253774	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv898049	chr11:85231475-85292310	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv518780	chr11:85245772-85266793	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85244600-85251400	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:85244600-85251400	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:85248600-85251200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:85248600-85251400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:85248800-85251200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:85248800-85251600	Weak transcription	Lung	lung
7	chr11:85248800-85252600	Weak transcription	Pancreas	Pancrea
8	chr11:85248800-85292000	Weak transcription	Aorta	Aorta
9	chr11:85249800-85252000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:85250000-85251800	Enhancers	HSMMtube	muscle
11	chr11:85250000-85252000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:85250000-85252200	Enhancers	Fetal Muscle Leg	muscle
13	chr11:85250200-85251600	Enhancers	Fetal Heart	heart
14	chr11:85250400-85251400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:85250400-85253800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:85250600-85251200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:85250600-85253000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:85250800-85251600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:85250800-85252000	Enhancers	Left Ventricle	heart
20	chr11:85250800-85252000	Enhancers	Right Atrium	heart
21	chr11:85250800-85253600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:85250800-85253600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:85251000-85251400	Enhancers	Psoas Muscle	Psoas
24	chr11:85251000-85251800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:85251000-85252000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:85251000-85252000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:85251000-85252000	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:85251000-85252000	Enhancers	Right Ventricle	heart
29	chr11:85251000-85252200	Enhancers	Ovary	ovary
30	chr11:85251000-85252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:85251000-85253400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:85251000-85253600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:85251000-85253800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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