Variant report

Variant	rs2747037
Chromosome Location	chr1:94243918-94243919
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94146376..94151187-chr1:94242377..94246202,6	MCF-7	breast:
2	chr1:94145818..94148762-chr1:94243125..94247422,9	MCF-7	breast:
3	chr1:94243077..94247180-chr1:94249014..94254909,5	MCF-7	breast:
4	chr1:94232434..94235361-chr1:94242307..94244423,2	K562	blood:
5	chr1:94221637..94224412-chr1:94243135..94245798,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10874797	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11164970	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11164973	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11164974	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11582870	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1884019	0.90[EUR][1000 genomes]
rs2092700	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2747036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2747038	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2747040	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2747042	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2747044	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2747047	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2747049	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2818161	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818165	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818166	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2818167	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4520428	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847184	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847192	0.90[EUR][1000 genomes]
rs4847254	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4847257	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6541399	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6660210	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6667986	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6703684	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7523787	0.90[EUR][1000 genomes]
rs7552293	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs947343	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9651128	0.99[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2747037	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs2747037	RP11-488P3.1	cis	Adipose Subcutaneous	GTEx
rs2747037	RP11-488P3.1	cis	Heart Left Ventricle	GTEx
rs2747037	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL
rs2747037	RP11-488P3.1	cis	Esophagus Muscularis	GTEx
rs2747037	RP11-488P3.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
2	chr1:94235600-94245200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:94235600-94245200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:94235800-94245200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:94235800-94245200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:94236000-94244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:94236000-94245400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:94236000-94245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:94236200-94247400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:94239400-94245200	Weak transcription	Psoas Muscle	Psoas
11	chr1:94240800-94244600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:94240800-94245000	Weak transcription	Osteobl	bone
13	chr1:94241000-94244600	Weak transcription	NH-A	brain
14	chr1:94241000-94244800	Weak transcription	HSMM	muscle
15	chr1:94241000-94245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:94241000-94245400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:94241000-94245400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:94241000-94247400	Enhancers	HMEC	breast
19	chr1:94241000-94249000	Enhancers	Hela-S3	cervix
20	chr1:94241200-94245000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:94241200-94245000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:94241200-94248400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:94241800-94244800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:94242600-94244200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:94242600-94245200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:94242800-94244200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:94242800-94244400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:94242800-94245200	Weak transcription	HepG2	liver
29	chr1:94243000-94244200	Weak transcription	A549	lung
30	chr1:94243000-94247800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:94243400-94245000	Enhancers	NHEK	skin
32	chr1:94243400-94245400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:94243600-94244400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:94243600-94248400	Enhancers	Placenta	Placenta

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