Variant report

Variant	rs2823488
Chromosome Location	chr21:17149595-17149596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17141263..17145457-chr21:17148743..17151657,3	MCF-7	breast:
2	chr21:17102202..17104266-chr21:17147089..17149632,2	K562	blood:
3	chr21:17149058..17152250-chr21:17172781..17176398,3	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11909953	0.92[CHB][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13347185	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17241402	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17307156	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1986788	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2183553	0.86[ASN][1000 genomes]
rs2823464	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823467	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823473	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823476	0.81[AFR][1000 genomes]
rs2823477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823480	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2823482	0.81[AFR][1000 genomes]
rs2823487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823489	0.85[AFR][1000 genomes]
rs28484960	0.88[ASN][1000 genomes]
rs28553297	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28730511	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55804442	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58134477	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58683309	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60174740	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6517612	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6517648	0.83[AFR][1000 genomes]
rs6517652	0.83[AFR][1000 genomes]
rs7277813	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348818	0.82[ASN][1000 genomes]
rs73892561	0.82[ASN][1000 genomes]
rs8128335	1.00[CEU][hapmap]
rs8130607	0.92[CHB][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8132755	0.88[ASN][1000 genomes]
rs926612	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9305754	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs9680115	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9975374	0.82[ASN][1000 genomes]
rs9977019	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs9980591	0.82[ASN][1000 genomes]
rs9982630	0.82[ASN][1000 genomes]
rs9984651	0.81[ASN][1000 genomes]
rs9985029	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17125800-17153400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
6	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr21:17132800-17153400	Weak transcription	Spleen	Spleen
8	chr21:17134000-17152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr21:17134000-17153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17134200-17153000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr21:17134200-17153400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr21:17134200-17154000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr21:17134400-17153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr21:17135000-17152600	Weak transcription	Primary T cells from cord blood	blood
15	chr21:17135000-17153000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:17135000-17153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr21:17135000-17153600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:17135200-17153000	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:17135400-17153200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr21:17135600-17153200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr21:17136600-17153200	Weak transcription	Thymus	Thymus
22	chr21:17138600-17152800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr21:17139600-17150800	Weak transcription	Fetal Kidney	kidney
24	chr21:17139800-17153000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:17139800-17153400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:17139800-17153400	Weak transcription	Aorta	Aorta
27	chr21:17140000-17152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:17140200-17150800	Weak transcription	Fetal Lung	lung
29	chr21:17140200-17153400	Weak transcription	Brain Anterior Caudate	brain
30	chr21:17140400-17152600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr21:17140800-17153000	Weak transcription	K562	blood
32	chr21:17140800-17153400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr21:17140800-17154200	Weak transcription	Stomach Mucosa	stomach
34	chr21:17141000-17152800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr21:17142600-17153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:17142600-17153600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:17142600-17154000	Weak transcription	Brain Hippocampus Middle	brain
38	chr21:17142800-17152600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:17143200-17152800	Weak transcription	Hela-S3	cervix
40	chr21:17143600-17153000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr21:17144000-17153200	Weak transcription	Ovary	ovary
42	chr21:17144000-17153400	Weak transcription	Lung	lung
43	chr21:17144000-17153800	Weak transcription	Right Ventricle	heart
44	chr21:17144200-17153200	Weak transcription	GM12878-XiMat	blood
45	chr21:17144600-17150400	Weak transcription	HUVEC	blood vessel
46	chr21:17145200-17150000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr21:17145600-17153000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr21:17145600-17153000	Weak transcription	Fetal Thymus	thymus
49	chr21:17145600-17153200	Weak transcription	Left Ventricle	heart
50	chr21:17145600-17153400	Weak transcription	Esophagus	oesophagus

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