Variant report

Variant	rs6729749
Chromosome Location	chr2:172326263-172326264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172288832..172292910-chr2:172322388..172326341,4	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16823212	1.00[EUR][1000 genomes]
rs2674496	1.00[EUR][1000 genomes]
rs28453686	0.95[AFR][1000 genomes]
rs3731979	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3795997	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56392714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57136707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57580465	1.00[EUR][1000 genomes]
rs59019079	0.90[AFR][1000 genomes]
rs59195571	0.85[AFR][1000 genomes]
rs59827170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60018506	1.00[EUR][1000 genomes]
rs60601337	0.80[AFR][1000 genomes]
rs62183544	0.87[ASN][1000 genomes]
rs6730160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976164	0.97[AFR][1000 genomes]
rs73976165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976168	0.85[AFR][1000 genomes]
rs73976170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7560091	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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
4	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
5	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:172298600-172341400	Weak transcription	NHLF	lung
7	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:172304800-172330000	Weak transcription	NH-A	brain
9	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:172305000-172326400	Weak transcription	Lung	lung
11	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
13	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
14	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
15	chr2:172312600-172326800	Weak transcription	Ovary	ovary
16	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:172314600-172326400	Weak transcription	Spleen	Spleen
18	chr2:172314600-172326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:172315000-172326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:172315000-172326800	Weak transcription	Fetal Lung	lung
21	chr2:172315000-172337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:172315400-172326800	Weak transcription	HSMMtube	muscle
23	chr2:172315400-172329600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:172315600-172326600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:172315800-172326400	Weak transcription	Esophagus	oesophagus
26	chr2:172316000-172326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:172316000-172326800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:172316200-172326600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:172318000-172326400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:172322800-172337800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:172323800-172327800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:172324200-172327800	Strong transcription	Primary B cells from cord blood	blood
33	chr2:172324400-172327600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:172324400-172327800	Strong transcription	K562	blood
35	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:172324600-172338200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:172324600-172340000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:172324800-172327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:172324800-172327200	Strong transcription	HSMM	muscle
40	chr2:172324800-172327400	Strong transcription	HepG2	liver
41	chr2:172324800-172327600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:172324800-172327600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:172324800-172327800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:172324800-172328000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:172324800-172334800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:172324800-172334800	Strong transcription	Dnd41	blood
47	chr2:172324800-172337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:172324800-172340400	Strong transcription	Primary T cells from cord blood	blood
49	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:172325000-172326400	Strong transcription	NHDF-Ad	bronchial

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