Variant report

Variant	rs2857638
Chromosome Location	chr22:30053118-30053119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30047107..30049570-chr22:30052178..30054357,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13054076	0.83[AMR][1000 genomes]
rs2007668	0.93[JPT][hapmap]
rs2079647	0.94[JPT][hapmap]
rs2158619	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2245194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283860	0.94[JPT][hapmap]
rs2348686	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2527334	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2527335	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2530661	0.94[JPT][hapmap]
rs2530662	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2530685	0.84[EUR][1000 genomes]
rs2531844	0.93[JPT][hapmap]
rs2857643	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2857646	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2857647	0.80[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2857652	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34880116	0.85[AFR][1000 genomes]
rs456300	0.93[JPT][hapmap]
rs465938	0.93[JPT][hapmap]
rs467812	0.93[JPT][hapmap]
rs468217	0.93[JPT][hapmap]
rs468902	0.94[JPT][hapmap]
rs56246484	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5763296	0.94[JPT][hapmap]
rs5763302	0.93[JPT][hapmap]
rs5763304	0.94[JPT][hapmap]
rs5763378	0.86[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6006179	0.93[JPT][hapmap]
rs6361	0.93[JPT][hapmap]
rs6519793	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7290811	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs731647	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs737976	0.93[JPT][hapmap]
rs737977	0.94[JPT][hapmap]
rs756053	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8140060	0.83[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs9613968	0.93[JPT][hapmap]
rs9613976	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30014400-30085800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30018000-30069200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30020200-30057000	Weak transcription	Psoas Muscle	Psoas
4	chr22:30020200-30064200	Weak transcription	Small Intestine	intestine
5	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
6	chr22:30022200-30053400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:30026800-30055800	Weak transcription	Gastric	stomach
8	chr22:30027600-30057200	Weak transcription	Brain Hippocampus Middle	brain
9	chr22:30027800-30056000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:30029600-30053800	Weak transcription	Esophagus	oesophagus
11	chr22:30032200-30057000	Weak transcription	Colonic Mucosa	Colon
12	chr22:30032200-30070000	Weak transcription	Fetal Brain Male	brain
13	chr22:30033000-30053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30034400-30060400	Weak transcription	K562	blood
15	chr22:30035400-30060800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr22:30035600-30057200	Weak transcription	Placenta	Placenta
17	chr22:30037200-30064200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:30038200-30057000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:30038400-30055800	Weak transcription	Fetal Kidney	kidney
20	chr22:30038400-30060600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:30038800-30057000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:30038800-30069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:30039000-30053800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr22:30039000-30054000	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:30039000-30054600	Weak transcription	Aorta	Aorta
26	chr22:30039000-30054800	Weak transcription	NHLF	lung
27	chr22:30039000-30068000	Weak transcription	Hela-S3	cervix
28	chr22:30039200-30053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr22:30039200-30056200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr22:30041800-30054000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:30042200-30057200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:30043800-30064000	Weak transcription	Fetal Heart	heart
33	chr22:30044800-30053600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr22:30044800-30058200	Weak transcription	Right Ventricle	heart
35	chr22:30044800-30059600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:30045000-30053400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:30045000-30053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr22:30045000-30053800	Weak transcription	Fetal Intestine Large	intestine
39	chr22:30045000-30060600	Weak transcription	Brain Substantia Nigra	brain
40	chr22:30045400-30053400	Weak transcription	HSMMtube	muscle
41	chr22:30045400-30053600	Weak transcription	Ovary	ovary
42	chr22:30045600-30054000	Weak transcription	Pancreas	Pancrea
43	chr22:30047400-30055000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:30047400-30056200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:30047800-30057600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:30048000-30053800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:30048000-30064000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr22:30048000-30064200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr22:30048200-30053400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr22:30048200-30054800	Weak transcription	H1 Cell Line	embryonic stem cell

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