Variant report

Variant	rs12166580
Chromosome Location	chr22:30395772-30395773
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	chr22:30388182..30391432-chr22:30393585..30396816,3	K562	blood:
2	chr22:30388182..30392809-chr22:30393222..30398050,6	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs11090582	1.00[EUR][1000 genomes]
rs12166648	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12166746	1.00[AMR][1000 genomes]
rs12167143	1.00[AMR][1000 genomes]
rs12167519	1.00[AMR][1000 genomes]
rs12169015	1.00[AMR][1000 genomes]
rs12169042	1.00[AMR][1000 genomes]
rs16988043	1.00[EUR][1000 genomes]
rs16988044	1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs41479445	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs7286724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7290848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs73400621	1.00[EUR][1000 genomes]
rs9620930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620939	1.00[EUR][1000 genomes]
rs9620945	1.00[AMR][1000 genomes]
rs9620947	1.00[AMR][1000 genomes]
rs9625869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625903	1.00[EUR][1000 genomes]
rs9625907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625929	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr22:30367400-30397800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
7	chr22:30378200-30398800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:30381000-30397600	Weak transcription	Fetal Kidney	kidney
9	chr22:30384200-30398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:30388000-30398400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:30388600-30396800	Weak transcription	Brain Germinal Matrix	brain
16	chr22:30388600-30398200	Weak transcription	Spleen	Spleen
17	chr22:30388600-30400800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr22:30389000-30398600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:30389200-30398400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr22:30389200-30402600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:30389200-30403000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:30389200-30404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:30389200-30409200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr22:30389200-30411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:30389200-30411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:30389400-30398200	Weak transcription	Thymus	Thymus
27	chr22:30389800-30400600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr22:30390200-30398800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:30390200-30398800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:30390200-30403200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:30390800-30398400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr22:30390800-30403000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr22:30391000-30396600	Weak transcription	Colonic Mucosa	Colon
35	chr22:30391000-30397800	Weak transcription	Fetal Thymus	thymus
36	chr22:30391200-30396000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:30391200-30397400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr22:30391200-30402800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr22:30391200-30411400	Weak transcription	Small Intestine	intestine
40	chr22:30391400-30398000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:30391400-30398200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:30391400-30398600	Weak transcription	Brain Angular Gyrus	brain
43	chr22:30391400-30398600	Weak transcription	Right Ventricle	heart
44	chr22:30391400-30398800	Weak transcription	Gastric	stomach
45	chr22:30391400-30399400	Weak transcription	Brain Substantia Nigra	brain
46	chr22:30391400-30400800	Weak transcription	HSMMtube	muscle
47	chr22:30391400-30402600	Weak transcription	Ovary	ovary
48	chr22:30391400-30403000	Weak transcription	Pancreas	Pancrea
49	chr22:30391400-30403200	Weak transcription	Psoas Muscle	Psoas
50	chr22:30391400-30403600	Weak transcription	Hela-S3	cervix

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