Variant report

Variant	rs58683309
Chromosome Location	chr21:17130187-17130188
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	chr21:17128179..17129872-chr21:17129945..17132364,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13347185	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17241402	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17307156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1986788	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823464	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823467	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823473	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823477	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823479	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823480	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823487	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823488	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28730511	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55804442	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58134477	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60174740	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6517612	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7277813	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7281290	0.84[EUR][1000 genomes]
rs8130607	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926612	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9680115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv275197	chr21:17123855-17130358	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
3	chr21:17115600-17133400	Weak transcription	Dnd41	blood
4	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
7	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix
8	chr21:17123400-17130200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:17123600-17133000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr21:17124800-17130200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:17124800-17130200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr21:17125800-17133600	Weak transcription	Lung	lung
13	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:17126200-17134600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:17126600-17130200	ZNF genes & repeats	GM12878-XiMat	blood
16	chr21:17126600-17131200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr21:17126600-17137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr21:17126800-17133600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
20	chr21:17127000-17130400	Weak transcription	Aorta	Aorta
21	chr21:17127000-17131800	Weak transcription	Right Atrium	heart
22	chr21:17127000-17132000	Weak transcription	Fetal Heart	heart
23	chr21:17127000-17133400	Weak transcription	Pancreas	Pancrea
24	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
25	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:17127200-17131600	Weak transcription	Right Ventricle	heart
27	chr21:17127200-17132000	Weak transcription	Psoas Muscle	Psoas
28	chr21:17127200-17132400	Weak transcription	Spleen	Spleen
29	chr21:17127200-17139400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr21:17127200-17140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr21:17127400-17133800	Weak transcription	Fetal Lung	lung
33	chr21:17127400-17146200	Weak transcription	NHDF-Ad	bronchial
34	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr21:17127600-17145200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:17127800-17131800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr21:17127800-17139400	Weak transcription	Fetal Kidney	kidney
39	chr21:17127800-17141600	Weak transcription	HMEC	breast
40	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
41	chr21:17128000-17130400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:17128000-17131600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr21:17128000-17132000	Weak transcription	Stomach Mucosa	stomach
44	chr21:17128000-17132400	Weak transcription	Colon Smooth Muscle	Colon
45	chr21:17128000-17132800	Weak transcription	Adipose Nuclei	Adipose
46	chr21:17128000-17135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:17128000-17139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:17128200-17132400	Weak transcription	Liver	Liver
49	chr21:17128200-17132400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr21:17128200-17139600	Weak transcription	Brain Anterior Caudate	brain

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