Variant report

Variant	rs12167519
Chromosome Location	chr22:30348142-30348143
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs12166580	1.00[AMR][1000 genomes]
rs12166746	1.00[AMR][1000 genomes]
rs12167143	1.00[AMR][1000 genomes]
rs12167625	0.87[AFR][1000 genomes]
rs12168675	0.87[AFR][1000 genomes]
rs12169015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12169042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41479445	1.00[AMR][1000 genomes]
rs7286724	1.00[AMR][1000 genomes]
rs7290848	1.00[AMR][1000 genomes]
rs9620927	1.00[AFR][1000 genomes]
rs9620930	1.00[AMR][1000 genomes]
rs9620945	1.00[AMR][1000 genomes]
rs9620947	1.00[AMR][1000 genomes]
rs9625869	1.00[AMR][1000 genomes]
rs9625890	1.00[AMR][1000 genomes]
rs9625907	1.00[AMR][1000 genomes]
rs9625929	1.00[AMR][1000 genomes]
rs9625936	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
2	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
4	chr22:30340200-30351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
6	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
7	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:30340800-30350400	Weak transcription	Stomach Mucosa	stomach
11	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:30341200-30352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:30341200-30353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr22:30341400-30351000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr22:30341400-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr22:30341400-30355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr22:30342600-30350400	Weak transcription	Aorta	Aorta
18	chr22:30342600-30350400	Weak transcription	Right Atrium	heart
19	chr22:30342600-30352200	Weak transcription	Gastric	stomach
20	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
21	chr22:30343800-30348800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:30344200-30375000	Weak transcription	HMEC	breast
23	chr22:30344400-30350400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
25	chr22:30344600-30349200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:30344600-30349400	Weak transcription	Brain Substantia Nigra	brain
27	chr22:30344600-30357600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:30344600-30357800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:30344600-30358400	Weak transcription	Fetal Stomach	stomach
30	chr22:30344600-30367200	Weak transcription	Brain Anterior Caudate	brain
31	chr22:30344600-30370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
33	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:30344800-30348800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30345000-30350400	Weak transcription	Brain Angular Gyrus	brain
36	chr22:30345000-30352800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:30345000-30358600	Weak transcription	Fetal Lung	lung
38	chr22:30345000-30367200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr22:30345000-30367600	Weak transcription	Brain Germinal Matrix	brain
40	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
41	chr22:30345400-30352200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:30345400-30356400	Weak transcription	Fetal Brain Male	brain
43	chr22:30345400-30370000	Weak transcription	HSMM	muscle
44	chr22:30345400-30371600	Weak transcription	Lung	lung
45	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
46	chr22:30345800-30363200	Weak transcription	Liver	Liver
47	chr22:30346200-30348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:30346200-30348600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr22:30346200-30351000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:30346200-30355200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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