Variant report

Variant	rs9625894
Chromosome Location	chr22:30365075-30365076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30363254..30365949-chr22:30378819..30380914,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASCC2-1	chr22:30363672-30366965	ENSG00000249836

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10222281	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483156	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11090591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11090592	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11090597	0.87[AMR][1000 genomes]
rs11704206	0.91[ASN][1000 genomes]
rs11704885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705048	0.84[AMR][1000 genomes]
rs11705207	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705418	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12165769	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12166087	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12166755	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12166998	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12169823	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330007	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12330076	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627856	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12627944	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12628395	0.83[ASN][1000 genomes]
rs17644868	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17644886	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17647135	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17713646	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520101	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28635872	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34647160	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747148	0.83[ASN][1000 genomes]
rs3788418	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3788425	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737905	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737906	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737907	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739615	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs916782	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9620928	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620929	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620935	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620936	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9620944	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9620948	0.87[AMR][1000 genomes]
rs9625883	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625886	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625887	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625889	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625896	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9625899	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9625910	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9625914	0.87[AMR][1000 genomes]
rs9625922	0.82[AMR][1000 genomes]
rs9625930	0.87[AMR][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	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	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
4	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
5	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
6	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
2	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
3	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
7	chr22:30344200-30375000	Weak transcription	HMEC	breast
8	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
9	chr22:30344600-30367200	Weak transcription	Brain Anterior Caudate	brain
10	chr22:30344600-30370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
12	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:30345000-30367200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:30345000-30367600	Weak transcription	Brain Germinal Matrix	brain
15	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
16	chr22:30345400-30370000	Weak transcription	HSMM	muscle
17	chr22:30345400-30371600	Weak transcription	Lung	lung
18	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
19	chr22:30347000-30373800	Weak transcription	Left Ventricle	heart
20	chr22:30347200-30369600	Weak transcription	Pancreas	Pancrea
21	chr22:30348000-30374800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:30348400-30366200	Weak transcription	Colon Smooth Muscle	Colon
23	chr22:30348400-30373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr22:30348600-30366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr22:30348800-30367200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr22:30349400-30366200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:30349400-30370400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:30349800-30367600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr22:30350000-30367800	Weak transcription	Brain Substantia Nigra	brain
31	chr22:30350600-30375400	Weak transcription	GM12878-XiMat	blood
32	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
33	chr22:30350800-30367600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:30351200-30385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:30351200-30387400	Weak transcription	Ovary	ovary
36	chr22:30352000-30369600	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:30352600-30371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:30352800-30373800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:30352800-30388600	Weak transcription	HepG2	liver
40	chr22:30353000-30369800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:30353200-30369200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:30353600-30375000	Weak transcription	Psoas Muscle	Psoas
43	chr22:30354600-30367600	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
45	chr22:30354800-30368000	Weak transcription	Dnd41	blood
46	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
47	chr22:30355000-30374400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:30355200-30374000	Weak transcription	Placenta	Placenta
49	chr22:30356000-30369800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr22:30356200-30365800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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