Variant report

Variant	rs12138866
Chromosome Location	chr1:224432260-224432261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10799491	0.87[EUR][1000 genomes]
rs10799507	0.96[EUR][1000 genomes]
rs10799543	0.92[EUR][1000 genomes]
rs10916458	0.92[EUR][1000 genomes]
rs10916462	0.92[EUR][1000 genomes]
rs10916472	0.88[EUR][1000 genomes]
rs10916481	0.85[EUR][1000 genomes]
rs10916497	0.92[EUR][1000 genomes]
rs10916498	0.89[EUR][1000 genomes]
rs12082619	0.92[EUR][1000 genomes]
rs12083770	0.96[EUR][1000 genomes]
rs12120308	0.88[EUR][1000 genomes]
rs12124547	0.92[EUR][1000 genomes]
rs12126765	0.96[EUR][1000 genomes]
rs12126815	0.92[EUR][1000 genomes]
rs12133599	0.96[EUR][1000 genomes]
rs12140137	0.92[EUR][1000 genomes]
rs12184283	0.92[EUR][1000 genomes]
rs45583539	1.00[EUR][1000 genomes]
rs60256604	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6660194	0.88[EUR][1000 genomes]
rs6686449	0.92[EUR][1000 genomes]
rs6701036	0.81[EUR][1000 genomes]
rs68073536	0.89[EUR][1000 genomes]
rs72751651	0.83[EUR][1000 genomes]
rs72753956	0.96[EUR][1000 genomes]
rs72753969	0.96[EUR][1000 genomes]
rs72753980	0.87[EUR][1000 genomes]
rs72753994	0.88[EUR][1000 genomes]
rs72754000	0.92[EUR][1000 genomes]
rs72754001	0.84[EUR][1000 genomes]
rs72755905	0.92[EUR][1000 genomes]
rs7514140	0.96[EUR][1000 genomes]
rs7552239	0.92[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	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224407600-224434000	Weak transcription	Fetal Brain Male	brain
3	chr1:224411600-224438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
5	chr1:224412000-224433000	Weak transcription	Fetal Heart	heart
6	chr1:224412400-224473600	Weak transcription	HepG2	liver
7	chr1:224413200-224432600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:224414200-224438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:224415000-224436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:224415000-224440000	Weak transcription	Fetal Kidney	kidney
11	chr1:224415600-224432600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:224415600-224435000	Weak transcription	Gastric	stomach
13	chr1:224415800-224435600	Weak transcription	NHLF	lung
14	chr1:224415800-224435800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:224416000-224432800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:224416000-224436600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
18	chr1:224416200-224433000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:224417800-224435600	Weak transcription	Colonic Mucosa	Colon
20	chr1:224418000-224435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:224418000-224436600	Weak transcription	Right Ventricle	heart
22	chr1:224418400-224439400	Weak transcription	HSMMtube	muscle
23	chr1:224419200-224432600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:224419200-224435600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:224419200-224436600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:224420400-224435600	Weak transcription	HMEC	breast
27	chr1:224420800-224434400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:224421400-224433200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:224423600-224433000	Weak transcription	Lung	lung
30	chr1:224423800-224439400	Weak transcription	Right Atrium	heart
31	chr1:224424000-224435400	Weak transcription	Osteobl	bone
32	chr1:224424200-224432800	Weak transcription	A549	lung
33	chr1:224424200-224433000	Weak transcription	Left Ventricle	heart
34	chr1:224424200-224434200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:224424200-224435200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:224424200-224435400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:224424200-224435400	Weak transcription	NHEK	skin
38	chr1:224424200-224436000	Weak transcription	Fetal Lung	lung
39	chr1:224424400-224432600	Weak transcription	NH-A	brain
40	chr1:224424400-224433400	Weak transcription	Placenta	Placenta
41	chr1:224424400-224434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:224424400-224435800	Weak transcription	Colon Smooth Muscle	Colon
43	chr1:224424600-224432600	Weak transcription	HUVEC	blood vessel
44	chr1:224424600-224451600	Weak transcription	Aorta	Aorta
45	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
46	chr1:224424800-224434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:224424800-224454200	Weak transcription	HSMM	muscle
48	chr1:224425000-224432400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:224425000-224432400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:224425000-224432800	Weak transcription	Primary hematopoietic stem cells	blood

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