Variant report

Variant	rs2073430
Chromosome Location	chr21:44776374-44776375
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	chr21:44770401..44772882-chr21:44773828..44776725,2	K562	blood:
2	chr21:44775127..44777356-chr21:45085128..45087430,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1000472	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000474	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524850	0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs525548	0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs681210	0.91[JPT][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1059062	chr21:44711272-44779969	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
7	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
11	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
13	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
15	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44754800-44781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44763600-44780800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr21:44765400-44779000	Weak transcription	Gastric	stomach
4	chr21:44768400-44781000	Weak transcription	Fetal Intestine Small	intestine
5	chr21:44769000-44780600	Weak transcription	Right Atrium	heart
6	chr21:44770200-44780400	Weak transcription	Esophagus	oesophagus
7	chr21:44772000-44777000	Enhancers	Primary B cells from peripheral blood	blood
8	chr21:44772400-44780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:44772400-44781200	Enhancers	Fetal Muscle Leg	muscle
10	chr21:44773200-44776800	Enhancers	Brain Germinal Matrix	brain
11	chr21:44773400-44776600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:44773600-44776400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:44774000-44776600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:44774000-44780200	Weak transcription	Spleen	Spleen
15	chr21:44774200-44778600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:44774200-44779400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:44774600-44779000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:44774600-44780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:44774800-44776800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr21:44774800-44777200	Enhancers	Fetal Thymus	thymus
21	chr21:44774800-44782000	Weak transcription	Brain Anterior Caudate	brain
22	chr21:44775000-44776600	Enhancers	Fetal Brain Female	brain
23	chr21:44775400-44776600	Enhancers	Fetal Heart	heart
24	chr21:44775400-44776800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:44775400-44776800	Enhancers	GM12878-XiMat	blood
26	chr21:44775600-44779200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:44775800-44776600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:44775800-44777400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:44776000-44776400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:44776000-44776600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:44776200-44776600	Weak transcription	Fetal Lung	lung
32	chr21:44776200-44776600	Enhancers	HepG2	liver
33	chr21:44776200-44777400	Weak transcription	Fetal Brain Male	brain

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