Variant report

Variant	rs12077222
Chromosome Location	chr1:67501712-67501713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11208975	0.80[AMR][1000 genomes]
rs12061039	0.80[AMR][1000 genomes]
rs12071769	0.91[AMR][1000 genomes]
rs12072926	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12089081	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12090768	0.80[AMR][1000 genomes]
rs6671340	0.83[AMR][1000 genomes]
rs7528178	0.80[AMR][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
3	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
4	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
8	chr1:67470800-67505400	Weak transcription	Gastric	stomach
9	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:67472400-67502400	Weak transcription	Fetal Brain Male	brain
11	chr1:67473800-67518000	Weak transcription	A549	lung
12	chr1:67476000-67504600	Weak transcription	Lung	lung
13	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
15	chr1:67479800-67503200	Weak transcription	K562	blood
16	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:67484800-67501800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:67485400-67503600	Weak transcription	Ovary	ovary
19	chr1:67485400-67504000	Weak transcription	Brain Anterior Caudate	brain
20	chr1:67485400-67505800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:67485600-67503000	Weak transcription	Placenta	Placenta
22	chr1:67485800-67503000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:67485800-67504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:67485800-67506200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:67485800-67507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:67486200-67516800	Weak transcription	NHEK	skin
28	chr1:67486600-67501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:67486600-67501800	Weak transcription	Fetal Kidney	kidney
30	chr1:67486600-67502000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:67486800-67503200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:67486800-67503800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:67486800-67505400	Weak transcription	Left Ventricle	heart
34	chr1:67486800-67509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
36	chr1:67487000-67503000	Weak transcription	NHLF	lung
37	chr1:67487000-67503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:67487000-67505400	Weak transcription	Esophagus	oesophagus
39	chr1:67487200-67502000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:67487200-67502200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:67487200-67502400	Weak transcription	Brain Angular Gyrus	brain
42	chr1:67487200-67503200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:67487200-67504000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:67487200-67505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:67487600-67504000	Weak transcription	Thymus	Thymus
46	chr1:67487600-67504400	Weak transcription	Fetal Stomach	stomach
47	chr1:67487800-67505800	Weak transcription	Aorta	Aorta
48	chr1:67487800-67516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:67488400-67501800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:67488400-67506000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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