Variant report

Variant	rs17004601
Chromosome Location	chr21:45092957-45092958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45091437..45093703-chr21:45099864..45102476,3	K562	blood:
2	chr21:45092089..45093860-chr21:45094731..45097626,2	K562	blood:
3	chr21:45085964..45087716-chr21:45092086..45095034,2	MCF-7	breast:
4	chr21:45078195..45085937-chr21:45087905..45095255,13	K562	blood:

Variant related genes	Relation type
ENSG00000160207	Chromatin interaction
ENSG00000160208	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11908893	1.00[AMR][1000 genomes]
rs11909619	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911560	1.00[AMR][1000 genomes]
rs17004588	1.00[AMR][1000 genomes]
rs17004600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61733779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62226936	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv999311	chr21:45087738-45097588	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45094600	Weak transcription	NHLF	lung
3	chr21:45080800-45094800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:45080800-45094800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45080800-45096200	Weak transcription	Psoas Muscle	Psoas
6	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
7	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
8	chr21:45081200-45096400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:45081600-45093800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:45082000-45101800	Weak transcription	Fetal Kidney	kidney
11	chr21:45082000-45107200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr21:45082400-45097200	Weak transcription	Fetal Brain Male	brain
13	chr21:45082800-45096200	Weak transcription	Colonic Mucosa	Colon
14	chr21:45082800-45116600	Strong transcription	Primary T cells from cord blood	blood
15	chr21:45085200-45094600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr21:45085800-45095000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:45086000-45117200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:45086200-45094000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr21:45086400-45094400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:45086400-45094800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:45086400-45095000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:45086400-45095800	Weak transcription	Colon Smooth Muscle	Colon
23	chr21:45086400-45110600	Weak transcription	Stomach Mucosa	stomach
24	chr21:45088400-45117200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr21:45088600-45097400	Strong transcription	K562	blood
26	chr21:45088600-45116400	Strong transcription	Dnd41	blood
27	chr21:45088600-45117000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:45088800-45118200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:45089000-45117000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:45089000-45117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr21:45089200-45093200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr21:45089200-45093400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:45089200-45098000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr21:45089200-45098000	Strong transcription	A549	lung
36	chr21:45089200-45098400	Strong transcription	Brain Germinal Matrix	brain
37	chr21:45089200-45099000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr21:45089200-45099400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:45089200-45101400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:45089200-45115000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:45089200-45116000	Strong transcription	Fetal Thymus	thymus
42	chr21:45089200-45116200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr21:45089200-45117000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr21:45089200-45117200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr21:45089400-45093000	Strong transcription	HepG2	liver
46	chr21:45089400-45099000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr21:45089400-45116600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr21:45089600-45093600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr21:45089600-45097800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr21:45089600-45116400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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