Variant report

Variant	rs56783715
Chromosome Location	chr22:30041074-30041075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11090582	1.00[EUR][1000 genomes]
rs16988011	1.00[EUR][1000 genomes]
rs16988043	1.00[EUR][1000 genomes]
rs16988044	1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs57014206	1.00[ASN][1000 genomes]
rs58113244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs58808486	0.91[ASN][1000 genomes]
rs59172206	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59237579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59422664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs59698661	0.91[ASN][1000 genomes]
rs59902813	1.00[ASN][1000 genomes]
rs60020246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006260	0.91[ASN][1000 genomes]
rs60670183	0.91[ASN][1000 genomes]
rs60751623	0.90[ASN][1000 genomes]
rs60965931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61399074	0.91[ASN][1000 genomes]
rs61432554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61740613	0.90[ASN][1000 genomes]
rs7285384	0.91[ASN][1000 genomes]
rs7286724	1.00[EUR][1000 genomes]
rs7288777	0.91[ASN][1000 genomes]
rs7290848	1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs8136249	0.90[ASN][1000 genomes]
rs8139885	0.90[ASN][1000 genomes]
rs9625869	1.00[EUR][1000 genomes]

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:122 , 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	chr22:30021800-30041600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:30022200-30053400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:30026800-30055800	Weak transcription	Gastric	stomach
9	chr22:30027200-30044400	Weak transcription	Brain Substantia Nigra	brain
10	chr22:30027600-30057200	Weak transcription	Brain Hippocampus Middle	brain
11	chr22:30027800-30056000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr22:30028400-30044400	Weak transcription	Pancreas	Pancrea
13	chr22:30029600-30053800	Weak transcription	Esophagus	oesophagus
14	chr22:30032200-30047000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:30032200-30057000	Weak transcription	Colonic Mucosa	Colon
16	chr22:30032200-30070000	Weak transcription	Fetal Brain Male	brain
17	chr22:30033000-30053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:30034400-30060400	Weak transcription	K562	blood
19	chr22:30035400-30047400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:30035400-30060800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr22:30035600-30057200	Weak transcription	Placenta	Placenta
22	chr22:30036600-30052000	Weak transcription	Brain Anterior Caudate	brain
23	chr22:30036800-30053000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:30037200-30064200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:30037600-30041200	Weak transcription	NHDF-Ad	bronchial
26	chr22:30037600-30047800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:30038200-30057000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:30038400-30043600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:30038400-30044400	Weak transcription	Thymus	Thymus
30	chr22:30038400-30055800	Weak transcription	Fetal Kidney	kidney
31	chr22:30038400-30060600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:30038800-30057000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr22:30038800-30069800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr22:30039000-30041200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr22:30039000-30041200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:30039000-30041200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:30039000-30041200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:30039000-30041200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:30039000-30041200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr22:30039000-30041200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:30039000-30041200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr22:30039000-30041200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr22:30039000-30041200	Weak transcription	HSMMtube	muscle
44	chr22:30039000-30041200	Weak transcription	NH-A	brain
45	chr22:30039000-30041400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr22:30039000-30041400	Weak transcription	Fetal Lung	lung
47	chr22:30039000-30041400	Weak transcription	GM12878-XiMat	blood
48	chr22:30039000-30041400	Weak transcription	NHEK	skin
49	chr22:30039000-30041600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr22:30039000-30042200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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