Variant report

Variant	rs459495
Chromosome Location	chr21:17134009-17134010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17108742..17111248-chr21:17133909..17136883,3	K562	blood:
2	chr21:17131546..17134772-chr21:17136356..17138734,3	MCF-7	breast:
3	chr21:17127290..17130073-chr21:17133451..17135040,2	MCF-7	breast:
4	chr21:17102586..17104212-chr21:17132608..17135141,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2823501	0.90[ASN][1000 genomes]
rs28465005	0.81[AFR][1000 genomes]
rs434246	0.81[ASN][1000 genomes]
rs439219	0.81[ASN][1000 genomes]
rs457953	0.81[AMR][1000 genomes]
rs459605	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463977	0.80[ASN][1000 genomes]
rs7364033	0.91[AFR][1000 genomes]
rs9305732	0.90[AFR][1000 genomes]
rs9305753	0.83[ASN][1000 genomes]
rs9977583	0.88[AFR][1000 genomes]
rs9980755	0.85[AFR][1000 genomes]
rs9983023	0.98[AFR][1000 genomes]
rs9984675	0.95[AFR][1000 genomes]
rs9984939	0.95[AFR][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:92 , 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	chr21:17126200-17134600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:17126600-17137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
10	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
11	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:17127200-17139400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:17127200-17140800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:17127400-17146200	Weak transcription	NHDF-Ad	bronchial
16	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:17127600-17145200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:17127800-17139400	Weak transcription	Fetal Kidney	kidney
20	chr21:17127800-17141600	Weak transcription	HMEC	breast
21	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
22	chr21:17128000-17135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:17128000-17139400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:17128200-17139600	Weak transcription	Brain Anterior Caudate	brain
25	chr21:17128400-17138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:17128800-17139400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr21:17128800-17139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:17130200-17134800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:17130400-17134800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:17130600-17134600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr21:17130600-17135400	Weak transcription	Primary B cells from cord blood	blood
32	chr21:17130800-17140400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr21:17131000-17139400	Weak transcription	HSMM	muscle
35	chr21:17131400-17134600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr21:17131600-17135000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr21:17131600-17135400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr21:17131800-17134200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr21:17131800-17134400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr21:17132000-17134200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr21:17132000-17134400	Enhancers	Stomach Mucosa	stomach
42	chr21:17132200-17134200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr21:17132200-17134400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:17132400-17134400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr21:17132400-17135400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr21:17132400-17135400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr21:17132400-17135600	Enhancers	Liver	Liver
48	chr21:17132600-17134600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:17132600-17137000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr21:17132800-17134600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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