Variant report

Variant	rs968578
Chromosome Location	chr21:45224328-45224329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45209783..45212594-chr21:45222169..45224397,2	MCF-7	breast:
2	chr21:45222905..45225247-chr21:45394812..45396880,2	MCF-7	breast:
3	chr21:45186409..45188413-chr21:45222813..45224847,2	MCF-7	breast:
4	chr21:45223265..45225321-chr21:45284150..45286190,2	K562	blood:
5	chr21:45223486..45226473-chr21:45348909..45351794,2	K562	blood:
6	chr21:45224259..45226376-chr21:45393066..45395792,2	K562	blood:

Variant related genes	Relation type
ENSG00000160214	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10048880	0.84[EUR][1000 genomes]
rs10222158	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11909278	0.81[AMR][1000 genomes]
rs11909913	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11911218	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2096857	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276245	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2838376	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838379	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838385	0.81[AFR][1000 genomes]
rs2838401	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838402	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28544397	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788072	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4566449	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55663506	0.81[AMR][1000 genomes]
rs55699458	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55825369	0.81[AMR][1000 genomes]
rs55830074	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55889756	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55896634	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55982230	0.81[AMR][1000 genomes]
rs56177442	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58798239	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58874284	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59274394	0.82[EUR][1000 genomes]
rs61028951	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61266401	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62229234	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62230079	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68106965	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8134342	0.85[ASN][1000 genomes]
rs9808695	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9979356	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9981458	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45224800	Strong transcription	H1 Cell Line	embryonic stem cell
2	chr21:45211000-45224800	Strong transcription	Brain Hippocampus Middle	brain
3	chr21:45211000-45224800	Strong transcription	Placenta	Placenta
4	chr21:45211000-45226200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:45211000-45226200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr21:45211000-45226600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr21:45211000-45226600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:45211000-45229200	Strong transcription	Fetal Intestine Small	intestine
9	chr21:45211000-45230400	Weak transcription	Stomach Mucosa	stomach
10	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
11	chr21:45211200-45224400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:45211200-45224400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:45211200-45224400	Strong transcription	Brain Cingulate Gyrus	brain
14	chr21:45211200-45224600	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr21:45211200-45224600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr21:45211200-45224800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr21:45211200-45224800	Strong transcription	Ovary	ovary
18	chr21:45211200-45225000	Strong transcription	Right Ventricle	heart
19	chr21:45211200-45225200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:45211200-45226200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:45211200-45226400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:45211200-45226800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:45211200-45226800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:45211200-45226800	Strong transcription	Esophagus	oesophagus
25	chr21:45211200-45227000	Strong transcription	Primary T cells from cord blood	blood
26	chr21:45211200-45227200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:45211200-45227200	Strong transcription	NHEK	skin
28	chr21:45211200-45229400	Strong transcription	Fetal Stomach	stomach
29	chr21:45211200-45230600	Weak transcription	Fetal Brain Male	brain
30	chr21:45211400-45224400	Strong transcription	Thymus	Thymus
31	chr21:45211400-45224600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr21:45211400-45224600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr21:45211400-45224800	Strong transcription	Fetal Thymus	thymus
34	chr21:45211400-45225000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:45211400-45225800	Strong transcription	Fetal Intestine Large	intestine
36	chr21:45211400-45226200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:45211400-45226200	Strong transcription	A549	lung
38	chr21:45211400-45226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:45211400-45226400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr21:45211400-45226600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr21:45211400-45226800	Strong transcription	Brain Anterior Caudate	brain
42	chr21:45211400-45226800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr21:45211400-45226800	Strong transcription	Gastric	stomach
44	chr21:45211400-45227000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:45211400-45228200	Strong transcription	Fetal Muscle Leg	muscle
46	chr21:45211600-45224600	Strong transcription	Brain Substantia Nigra	brain
47	chr21:45211600-45224600	Strong transcription	Left Ventricle	heart
48	chr21:45211600-45224600	Strong transcription	Pancreas	Pancrea
49	chr21:45211600-45224800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:45211600-45224800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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