Variant report

Variant	rs459605
Chromosome Location	chr21:17135764-17135765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17135749..17138458-chr21:17138787..17141062,2	K562	blood:
2	chr21:17108742..17111248-chr21:17133909..17136883,3	K562	blood:
3	chr21:17135749..17138458-chr21:17138787..17142045,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2823501	0.90[ASN][1000 genomes]
rs434246	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs439219	0.81[ASN][1000 genomes]
rs457953	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs459495	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463977	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9305753	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
2	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
5	chr21:17122600-17142800	Weak transcription	Hela-S3	cervix
6	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:17126600-17137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
9	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
10	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:17127200-17139400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:17127200-17140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:17127400-17146200	Weak transcription	NHDF-Ad	bronchial
15	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr21:17127600-17145200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr21:17127800-17139400	Weak transcription	Fetal Kidney	kidney
19	chr21:17127800-17141600	Weak transcription	HMEC	breast
20	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
21	chr21:17128000-17139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:17128200-17139600	Weak transcription	Brain Anterior Caudate	brain
23	chr21:17128400-17138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:17128800-17139400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:17128800-17139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr21:17130800-17140400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr21:17131000-17139400	Weak transcription	HSMM	muscle
29	chr21:17132600-17137000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr21:17132800-17139400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:17132800-17139400	Weak transcription	K562	blood
32	chr21:17132800-17153400	Weak transcription	Spleen	Spleen
33	chr21:17133600-17139600	Weak transcription	Fetal Heart	heart
34	chr21:17133800-17139400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:17133800-17145800	Weak transcription	Colon Smooth Muscle	Colon
36	chr21:17133800-17149400	Weak transcription	Small Intestine	intestine
37	chr21:17134000-17136200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:17134000-17137800	Weak transcription	Adipose Nuclei	Adipose
39	chr21:17134000-17138200	Weak transcription	Dnd41	blood
40	chr21:17134000-17139000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:17134000-17139400	Weak transcription	Fetal Lung	lung
42	chr21:17134000-17139400	Weak transcription	Left Ventricle	heart
43	chr21:17134000-17140600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr21:17134000-17143600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr21:17134000-17143600	Weak transcription	Gastric	stomach
46	chr21:17134000-17147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:17134000-17152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr21:17134000-17153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:17134200-17135800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr21:17134200-17136200	Weak transcription	Psoas Muscle	Psoas

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