Variant report

Variant	rs2823485
Chromosome Location	chr21:17145561-17145562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007774	1.00[EUR][1000 genomes]
rs10482873	1.00[EUR][1000 genomes]
rs11910098	1.00[EUR][1000 genomes]
rs12106443	1.00[EUR][1000 genomes]
rs16988682	1.00[EUR][1000 genomes]
rs16988797	1.00[EUR][1000 genomes]
rs16989451	1.00[EUR][1000 genomes]
rs16989491	1.00[EUR][1000 genomes]
rs16990117	1.00[EUR][1000 genomes]
rs16990578	1.00[EUR][1000 genomes]
rs16990828	1.00[EUR][1000 genomes]
rs2056895	1.00[EUR][1000 genomes]
rs2823388	1.00[EUR][1000 genomes]
rs2823391	1.00[EUR][1000 genomes]
rs2823456	1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2823458	1.00[EUR][1000 genomes]
rs2823466	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2823475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2823478	1.00[MEX][hapmap]
rs2823490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483497	1.00[EUR][1000 genomes]
rs28593618	1.00[EUR][1000 genomes]
rs28896184	1.00[EUR][1000 genomes]
rs41384050	1.00[EUR][1000 genomes]
rs59169113	1.00[EUR][1000 genomes]
rs725799	1.00[EUR][1000 genomes]
rs7278140	1.00[EUR][1000 genomes]
rs73343627	1.00[EUR][1000 genomes]
rs73343632	1.00[EUR][1000 genomes]
rs73343642	1.00[EUR][1000 genomes]
rs73346759	1.00[EUR][1000 genomes]
rs73892584	1.00[EUR][1000 genomes]
rs73892585	1.00[EUR][1000 genomes]
rs764003	1.00[EUR][1000 genomes]
rs9983290	1.00[EUR][1000 genomes]
rs9984269	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:109 , 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	chr21:17126800-17147600	Weak transcription	Placenta	Placenta
3	chr21:17127000-17147400	Weak transcription	HSMMtube	muscle
4	chr21:17127000-17152800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:17127200-17153400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17127400-17146200	Weak transcription	NHDF-Ad	bronchial
7	chr21:17127400-17147800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:17127400-17153400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:17127800-17152800	Weak transcription	Fetal Intestine Large	intestine
10	chr21:17130800-17156800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr21:17132800-17153400	Weak transcription	Spleen	Spleen
12	chr21:17133800-17145800	Weak transcription	Colon Smooth Muscle	Colon
13	chr21:17133800-17149400	Weak transcription	Small Intestine	intestine
14	chr21:17134000-17147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr21:17134000-17152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr21:17134000-17153400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:17134200-17153000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:17134200-17153400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:17134200-17154000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:17134400-17153200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:17135000-17152600	Weak transcription	Primary T cells from cord blood	blood
22	chr21:17135000-17153000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr21:17135000-17153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:17135000-17153600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:17135200-17153000	Weak transcription	Fetal Muscle Leg	muscle
26	chr21:17135400-17153200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr21:17135600-17153200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:17135800-17147200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:17136600-17148400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:17136600-17153200	Weak transcription	Thymus	Thymus
31	chr21:17138600-17152800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:17139200-17146200	Weak transcription	NHLF	lung
33	chr21:17139600-17150800	Weak transcription	Fetal Kidney	kidney
34	chr21:17139800-17149000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:17139800-17153000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr21:17139800-17153400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:17139800-17153400	Weak transcription	Aorta	Aorta
38	chr21:17140000-17146200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr21:17140000-17149000	Weak transcription	Liver	Liver
40	chr21:17140000-17152800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:17140200-17150800	Weak transcription	Fetal Lung	lung
42	chr21:17140200-17153400	Weak transcription	Brain Anterior Caudate	brain
43	chr21:17140400-17152600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr21:17140600-17148200	Weak transcription	HepG2	liver
45	chr21:17140800-17148800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr21:17140800-17153000	Weak transcription	K562	blood
47	chr21:17140800-17153400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr21:17140800-17154200	Weak transcription	Stomach Mucosa	stomach
49	chr21:17141000-17146200	Weak transcription	A549	lung
50	chr21:17141000-17146800	Weak transcription	Adipose Nuclei	Adipose

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