Variant report

Variant	rs12627856
Chromosome Location	chr22:30339421-30339422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10222281	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483156	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090584	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11090591	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090592	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11090597	0.81[AMR][1000 genomes]
rs11703553	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11703815	0.82[EUR][1000 genomes]
rs11704206	0.83[ASN][1000 genomes]
rs11704885	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705191	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11705207	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11705418	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12165769	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166087	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166755	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166998	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12169823	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330007	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12330076	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627944	0.87[ASN][1000 genomes]
rs12628395	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644868	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17644886	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647135	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17713646	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28520101	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28635872	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34647160	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747148	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788418	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788425	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7285169	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs737905	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737906	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737907	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739615	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9620928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620935	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620936	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620944	0.81[AMR][1000 genomes]
rs9620948	0.81[AMR][1000 genomes]
rs9625883	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625886	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625894	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625895	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625896	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625899	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9625910	0.81[AMR][1000 genomes]
rs9625914	0.81[AMR][1000 genomes]
rs9625930	0.81[AMR][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	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
2	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
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30311800-30340400	Weak transcription	HSMM	muscle
3	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
5	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
7	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:30321400-30339800	Weak transcription	Lung	lung
9	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
10	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:30331600-30339800	Weak transcription	Ovary	ovary
14	chr22:30332000-30342200	Weak transcription	Gastric	stomach
15	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
16	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
17	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:30332800-30340200	Weak transcription	Stomach Mucosa	stomach
19	chr22:30332800-30341000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
21	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
22	chr22:30334200-30341000	Weak transcription	Right Atrium	heart
23	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
24	chr22:30334400-30341200	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:30334600-30340000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:30334600-30340400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr22:30334600-30341000	Weak transcription	Psoas Muscle	Psoas
28	chr22:30334600-30341000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:30334800-30340000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:30335000-30340000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr22:30335800-30341000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr22:30336400-30339800	Weak transcription	Spleen	Spleen
33	chr22:30337000-30342000	Weak transcription	Brain Substantia Nigra	brain
34	chr22:30337400-30340000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:30337600-30340000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:30337600-30340000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:30337600-30340200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:30338000-30340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:30338000-30340400	Weak transcription	HSMMtube	muscle
40	chr22:30338200-30339800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr22:30338200-30340000	Weak transcription	Primary T cells from cord blood	blood
42	chr22:30338200-30340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:30338200-30340000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr22:30338200-30340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr22:30338200-30340200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr22:30338400-30340000	Weak transcription	Fetal Intestine Small	intestine
47	chr22:30338800-30341000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr22:30339000-30343000	Weak transcription	Brain Germinal Matrix	brain
49	chr22:30339400-30341800	Enhancers	Primary T helper cells fromperipheralblood	blood

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