Variant report

Variant	rs57619564
Chromosome Location	chr11:45432414-45432415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56149423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56222915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56245349	1.00[AMR][1000 genomes]
rs57272528	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59172361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59913855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60624442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60924591	1.00[AMR][1000 genomes]
rs7110477	1.00[AMR][1000 genomes]
rs7111829	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3454086	chr11:45427876-45433574	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv3426940	chr11:45428726-45432724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3454041	chr11:45428801-45432749	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv3441646	chr11:45429126-45432624	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv554187	chr11:45429381-45433578	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	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
11	nsv554192	chr11:45430297-45433578	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
12	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
13	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
14	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:37 , 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	chr11:45431000-45433600	Enhancers	NH-A	brain
5	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:45431400-45432600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:45431400-45432800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:45431400-45434200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:45431600-45432600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr11:45431600-45432600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:45431600-45433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:45431600-45434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:45431800-45432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:45431800-45433200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:45431800-45433800	Enhancers	Brain Angular Gyrus	brain
20	chr11:45431800-45434000	Enhancers	Fetal Brain Male	brain
21	chr11:45431800-45434600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:45431800-45434600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr11:45432000-45433200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:45432000-45433800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:45432000-45434000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:45432000-45434000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr11:45432000-45434000	Enhancers	HSMM	muscle
28	chr11:45432000-45434400	Bivalent Enhancer	Fetal Thymus	thymus
29	chr11:45432200-45433200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:45432200-45433400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr11:45432200-45433400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:45432200-45434400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:45432400-45432800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr11:45432400-45433200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:45432400-45433200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:45432400-45433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:45432400-45434000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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