Variant report

Variant	rs3826454
Chromosome Location	chr17:34219824-34219825
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:34205645..34208025-chr17:34217636..34221205,3	K562	blood:
2	chr17:34219635..34221584-chr17:34223774..34226661,2	MCF-7	breast:
3	chr17:34211096..34213839-chr17:34217874..34221211,4	K562	blood:
4	chr17:34217739..34219861-chr17:34227155..34229035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161570	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2072667	0.83[AMR][1000 genomes]
rs2242596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242597	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280783	0.83[ASN][1000 genomes]
rs2280786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526331	0.89[EUR][1000 genomes]
rs2702958	0.89[EUR][1000 genomes]
rs2735499	0.89[EUR][1000 genomes]
rs28914802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28914816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251700	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4251739	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55680144	0.89[EUR][1000 genomes]
rs55781042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55792948	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55799023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55846484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906604	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55915639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55951822	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56029903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077005	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56111312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56135703	1.00[AFR][1000 genomes]
rs56170514	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56181735	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56221144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56262662	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56305516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56382694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61737011	0.83[AMR][1000 genomes]
rs62078115	0.83[AMR][1000 genomes]
rs72483217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3826454	GAS2L2	cis	Heart Left Ventricle	GTEx
rs3826454	GAS2L2	cis	Adipose Subcutaneous	GTEx
rs3826454	GAS2L2	cis	Muscle Skeletal	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34214200-34223000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:34214800-34221800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:34215200-34220000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr17:34215200-34220200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:34215200-34220200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:34215200-34221000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr17:34215400-34220400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr17:34215400-34220600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:34216000-34220000	Enhancers	Fetal Thymus	thymus
10	chr17:34217600-34222200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:34217600-34223200	Weak transcription	HSMMtube	muscle
12	chr17:34217600-34225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:34217600-34225800	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:34217600-34227600	Weak transcription	NH-A	brain
15	chr17:34218200-34220000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:34218400-34224800	Weak transcription	Dnd41	blood
17	chr17:34218400-34227600	Weak transcription	Fetal Intestine Small	intestine
18	chr17:34219000-34220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:34219000-34220200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr17:34219000-34220200	Enhancers	Osteobl	bone
21	chr17:34219000-34220400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:34219200-34220000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr17:34219200-34220200	Enhancers	Thymus	Thymus
24	chr17:34219200-34221600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:34219200-34222600	Weak transcription	K562	blood
26	chr17:34219400-34220000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:34219400-34220400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:34219400-34220800	Weak transcription	Fetal Kidney	kidney
29	chr17:34219400-34221200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr17:34219600-34220400	Transcr. at gene 5' and 3'	Placenta	Placenta
31	chr17:34219600-34222600	Weak transcription	Primary T cells from cord blood	blood
32	chr17:34219600-34224400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:34219600-34225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:34219600-34225000	Weak transcription	NHEK	skin
35	chr17:34219600-34227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:34219800-34220200	Enhancers	Duodenum Mucosa	Duodenum
37	chr17:34219800-34221000	Enhancers	GM12878-XiMat	blood
38	chr17:34219800-34221400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:34219800-34222200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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