Variant report

Variant	rs13048370
Chromosome Location	chr21:15459600-15459601
allele	C/T
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:14)

rs_ID	r²[population]
rs13046587	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13047507	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13048221	0.87[EUR][1000 genomes]
rs13049181	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050018	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050118	0.87[EUR][1000 genomes]
rs13052761	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13052850	1.00[ASN][1000 genomes]
rs34506869	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35982572	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60311804	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7277094	0.85[EUR][1000 genomes]
rs73151552	0.81[EUR][1000 genomes]
rs8134447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1067433	chr21:14736298-15507502	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1055396	chr21:14756514-15507502	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv1062639	chr21:14775729-15507502	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1058072	chr21:15372509-15568171	Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1056787	chr21:15407504-15530291	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1831533	chr21:15442382-15477876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
8	esv1827667	chr21:15442582-15521121	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1827538	chr21:15446711-15472381	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	n/a
10	esv990249	chr21:15446864-15471276	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
11	esv1830377	chr21:15446911-15477676	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
12	esv1830288	chr21:15448891-15474325	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	n/a
13	esv32571	chr21:15456265-15467954	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	inside rSNPs	n/a
14	esv3516255	chr21:15458717-15462883	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
15	esv3516256	chr21:15458717-15462883	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
16	esv3420349	chr21:15458881-15463779	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
17	esv3416457	chr21:15458981-15463279	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15455800-15460200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
5	chr21:15456000-15470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:15456400-15462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15456800-15470200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:15457000-15467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:15457400-15461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:15457400-15463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr21:15457400-15464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:15457400-15465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:15457600-15459600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:15457600-15460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:15457600-15460600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:15457600-15462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:15457600-15463800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr21:15457600-15464000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:15457600-15464800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:15457600-15465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:15457600-15465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:15457600-15465200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:15457600-15465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:15457600-15465400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:15457600-15465800	Weak transcription	Hela-S3	cervix
26	chr21:15457600-15470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:15457600-15470200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr21:15457600-15470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:15457600-15470200	Weak transcription	Adipose Nuclei	Adipose
30	chr21:15457600-15470200	Weak transcription	Esophagus	oesophagus
31	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
32	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
34	chr21:15457800-15467800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
36	chr21:15458000-15459600	Strong transcription	Brain Germinal Matrix	brain
37	chr21:15458000-15465400	Weak transcription	Fetal Stomach	stomach
38	chr21:15458000-15466000	Weak transcription	Fetal Intestine Small	intestine
39	chr21:15458800-15460200	Strong transcription	Dnd41	blood
40	chr21:15459200-15459800	Strong transcription	Ovary	ovary
41	chr21:15459200-15460000	ZNF genes & repeats	Fetal Lung	lung
42	chr21:15459200-15466000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:15459400-15459800	Enhancers	GM12878-XiMat	blood
44	chr21:15459400-15460000	ZNF genes & repeats	Fetal Brain Female	brain
45	chr21:15459600-15460200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:15459600-15469000	Weak transcription	Brain Germinal Matrix	brain

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