Variant report

Variant	rs34599685
Chromosome Location	chr11:45434356-45434357
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45434026..45435982-chr11:45444753..45447322,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1037363	0.90[ASN][1000 genomes]
rs11038449	0.91[ASN][1000 genomes]
rs11038453	1.00[ASN][1000 genomes]
rs12270792	1.00[ASN][1000 genomes]
rs12273702	1.00[ASN][1000 genomes]
rs12283303	1.00[ASN][1000 genomes]
rs12418796	0.86[ASN][1000 genomes]
rs17788257	0.87[EUR][1000 genomes]
rs1811494	0.90[ASN][1000 genomes]
rs2044871	0.84[ASN][1000 genomes]
rs2863706	0.84[ASN][1000 genomes]
rs4755983	0.87[ASN][1000 genomes]
rs56944051	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57466211	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58545924	1.00[ASN][1000 genomes]
rs58957446	1.00[ASN][1000 genomes]
rs60977164	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73456054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974312	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv996050	chr11:45426481-45436633	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv511486	chr11:45429381-45438374	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv1807375	chr11:45430401-45438374	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1049520	chr11:45430802-45494235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv541026	chr11:45430802-45494235	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:45431800-45434600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:45431800-45434600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr11:45432000-45434400	Bivalent Enhancer	Fetal Thymus	thymus
12	chr11:45432200-45434400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr11:45432800-45434400	Enhancers	Fetal Brain Female	brain
14	chr11:45433000-45434400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:45433200-45434600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:45433200-45434800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr11:45433200-45435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:45433400-45434600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:45433400-45434800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:45433600-45435600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:45433800-45434400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:45433800-45434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:45434000-45434400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:45434000-45435400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:45434000-45436000	Weak transcription	Fetal Brain Male	brain
26	chr11:45434200-45434400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:45434200-45434600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr11:45434200-45444000	Weak transcription	Brain Germinal Matrix	brain

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