Variant report

Variant	rs12166797
Chromosome Location	chr22:31303146-31303147
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	chr22:31291971..31294342-chr22:31302855..31304396,2	K562	blood:
2	chr22:31302112..31304619-chr22:31311790..31314732,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089483	1.00[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11089485	1.00[CEU][hapmap]
rs12166075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12166445	1.00[EUR][1000 genomes]
rs12166521	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12167130	1.00[EUR][1000 genomes]
rs12168605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12168997	1.00[EUR][1000 genomes]
rs12169136	1.00[EUR][1000 genomes]
rs12170790	1.00[EUR][1000 genomes]
rs13433649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16989109	1.00[EUR][1000 genomes]
rs16989230	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232171	1.00[EUR][1000 genomes]
rs2232180	1.00[EUR][1000 genomes]
rs28428739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35239241	1.00[EUR][1000 genomes]
rs56686418	1.00[EUR][1000 genomes]
rs5994374	1.00[EUR][1000 genomes]
rs7284605	1.00[EUR][1000 genomes]
rs9619138	1.00[EUR][1000 genomes]
rs9619139	1.00[EUR][1000 genomes]
rs9619140	1.00[EUR][1000 genomes]
rs9619152	1.00[EUR][1000 genomes]
rs9619154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621106	1.00[EUR][1000 genomes]
rs9621111	1.00[EUR][1000 genomes]
rs9621121	1.00[EUR][1000 genomes]
rs9621129	1.00[EUR][1000 genomes]
rs9621131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621151	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 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	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart
4	chr22:31283400-31304000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr22:31283600-31318400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:31284400-31308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:31284800-31306600	Weak transcription	Colonic Mucosa	Colon
8	chr22:31286400-31304000	Weak transcription	Ovary	ovary
9	chr22:31288400-31316400	Weak transcription	Thymus	Thymus
10	chr22:31290000-31305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:31290000-31305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:31290200-31303800	Weak transcription	Gastric	stomach
13	chr22:31290200-31305000	Weak transcription	Pancreas	Pancrea
14	chr22:31290200-31308400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:31290400-31316600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:31290600-31316200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:31291000-31316200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:31291200-31316200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:31291400-31315400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr22:31293800-31310200	Weak transcription	Hela-S3	cervix
22	chr22:31294800-31309400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:31295400-31321000	Weak transcription	HSMMtube	muscle
24	chr22:31296200-31309000	Weak transcription	Left Ventricle	heart
25	chr22:31296800-31310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:31297000-31305600	Strong transcription	Fetal Intestine Small	intestine
27	chr22:31297400-31309400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:31298200-31305800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:31298400-31306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:31298600-31304600	Strong transcription	Fetal Stomach	stomach
31	chr22:31298800-31303800	Weak transcription	Brain Germinal Matrix	brain
32	chr22:31299000-31303600	Weak transcription	HSMM	muscle
33	chr22:31299200-31309800	Weak transcription	Primary B cells from cord blood	blood
34	chr22:31299600-31303800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr22:31299600-31304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:31299600-31308800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr22:31299600-31316600	Weak transcription	NHEK	skin
38	chr22:31299800-31304000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:31299800-31305000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr22:31299800-31307600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:31299800-31317000	Weak transcription	Brain Angular Gyrus	brain
42	chr22:31300000-31307200	Weak transcription	GM12878-XiMat	blood
43	chr22:31300200-31303800	Weak transcription	Lung	lung
44	chr22:31300200-31304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:31300200-31304000	Weak transcription	Primary T cells from cord blood	blood
46	chr22:31300200-31304400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr22:31300200-31305200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:31300200-31305400	Weak transcription	Aorta	Aorta
49	chr22:31300200-31307800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31300200-31308600	Weak transcription	Esophagus	oesophagus

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