Variant report

Variant	rs12469672
Chromosome Location	chr2:179731492-179731493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10497527	0.83[EUR][1000 genomes]
rs12464157	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12468141	0.85[AMR][1000 genomes]
rs12476203	0.85[AMR][1000 genomes]
rs12477340	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13400020	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1387472	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17453396	0.85[AMR][1000 genomes]
rs17453403	0.85[AMR][1000 genomes]
rs55800269	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55913885	0.85[AMR][1000 genomes]
rs966783	0.85[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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
3	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:179724600-179733400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179724800-179732800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:179726400-179733400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:179728800-179739600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:179729200-179733200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:179729400-179733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:179729400-179734600	Weak transcription	Right Ventricle	heart
15	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:179729600-179732400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:179729600-179732400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:179729600-179733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:179729600-179734600	Weak transcription	Left Ventricle	heart
20	chr2:179729600-179739400	Weak transcription	Aorta	Aorta
21	chr2:179729600-179747200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:179729800-179733800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:179730200-179735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:179730600-179732400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:179730600-179732600	Weak transcription	Fetal Brain Male	brain
26	chr2:179730600-179732800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:179730600-179732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:179730600-179733800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:179730600-179735000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:179730600-179735000	Weak transcription	Hela-S3	cervix
31	chr2:179730600-179735000	Weak transcription	HMEC	breast
32	chr2:179730600-179735000	Weak transcription	HSMM	muscle
33	chr2:179730600-179735000	Weak transcription	HUVEC	blood vessel
34	chr2:179730600-179735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:179730600-179735200	Weak transcription	Osteobl	bone
36	chr2:179730600-179739400	Weak transcription	Pancreas	Pancrea
37	chr2:179730600-179739600	Weak transcription	Right Atrium	heart
38	chr2:179730600-179745800	Weak transcription	NHLF	lung
39	chr2:179730600-179749000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:179730800-179731600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:179730800-179731800	Enhancers	Brain Germinal Matrix	brain
42	chr2:179730800-179735000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:179730800-179745200	Weak transcription	Primary B cells from cord blood	blood
44	chr2:179730800-179750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:179731000-179734000	Weak transcription	Fetal Heart	heart
48	chr2:179731000-179734200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:179731200-179732800	Weak transcription	Primary T cells from cord blood	blood
50	chr2:179731200-179733000	Weak transcription	HSMMtube	muscle

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