Variant report

Variant	rs2823473
Chromosome Location	chr21:17123406-17123407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17121263..17123662-chr21:17127297..17128832,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11909953	0.84[CHB][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs11910884	0.90[YRI][hapmap]
rs13347185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17241402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17307156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986788	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2026853	0.83[YRI][hapmap]
rs2823464	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823467	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823469	0.86[AFR][1000 genomes]
rs2823470	0.88[AFR][1000 genomes]
rs2823472	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs2823477	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823479	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823480	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823482	0.86[YRI][hapmap]
rs2823487	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823488	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823489	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs28484960	0.81[ASN][1000 genomes]
rs28553297	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28730511	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804442	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58134477	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58683309	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60174740	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6517609	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs6517611	0.88[AFR][1000 genomes]
rs6517612	0.92[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6517613	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs6517648	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs6517652	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs722887	0.84[AFR][1000 genomes]
rs7277813	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7279157	0.83[AFR][1000 genomes]
rs7279170	0.84[AFR][1000 genomes]
rs7283707	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs8127158	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs8128335	1.00[CEU][hapmap]
rs8130607	1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8132755	0.81[ASN][1000 genomes]
rs8134327	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs926612	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9305754	0.84[CHB][hapmap]
rs9680115	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941829	0.84[AFR][1000 genomes]
rs9977019	0.84[CHB][hapmap]
rs9982479	0.88[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
3	chr21:17113400-17123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr21:17113400-17124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:17114600-17123800	Weak transcription	Brain Anterior Caudate	brain
6	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
7	chr21:17114800-17126600	Weak transcription	NH-A	brain
8	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
11	chr21:17115600-17133400	Weak transcription	Dnd41	blood
12	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:17116200-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:17116600-17124200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:17116600-17124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:17116600-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
22	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
23	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
24	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
25	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
26	chr21:17116800-17124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
28	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr21:17119000-17125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr21:17119400-17124400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr21:17120000-17124400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr21:17120600-17123800	Enhancers	Colon Smooth Muscle	Colon
33	chr21:17120800-17124600	Weak transcription	Spleen	Spleen
34	chr21:17121000-17124400	Enhancers	Adipose Nuclei	Adipose
35	chr21:17121400-17123600	Weak transcription	Fetal Brain Male	brain
36	chr21:17121400-17125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:17121400-17125600	Weak transcription	Fetal Brain Female	brain
38	chr21:17121600-17123800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr21:17121600-17125200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr21:17121800-17125200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr21:17122000-17125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:17122200-17123600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:17122200-17123600	Enhancers	Gastric	stomach
44	chr21:17122200-17123600	Enhancers	Left Ventricle	heart
45	chr21:17122200-17125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr21:17122200-17126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr21:17122200-17126600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr21:17122200-17126600	Weak transcription	Fetal Kidney	kidney
49	chr21:17122200-17127200	Enhancers	Psoas Muscle	Psoas
50	chr21:17122200-17129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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