Variant report

Variant	rs2638948
Chromosome Location	chr3:99501539-99501540
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	chr3:99498216..99500096-chr3:99501454..99503765,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1287284	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1384062	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4577503	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4928150	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7613864	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs793437	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs793443	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793446	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793456	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793464	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs793475	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs793476	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs793497	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs796976	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2638948	FILIP1L	Cis_1M	lymphoblastoid	RTeQTL
rs2638948	C3orf26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99495800-99502000	Weak transcription	HUVEC	blood vessel
4	chr3:99496000-99513000	Weak transcription	NHEK	skin
5	chr3:99496400-99505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:99498600-99503000	Enhancers	NHDF-Ad	bronchial
7	chr3:99498800-99502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:99499000-99502400	Enhancers	HSMM	muscle
9	chr3:99499000-99502800	Enhancers	NH-A	brain
10	chr3:99499200-99501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:99499400-99502800	Enhancers	NHLF	lung
12	chr3:99499400-99503000	Enhancers	Osteobl	bone
13	chr3:99499400-99509000	Weak transcription	Aorta	Aorta
14	chr3:99499600-99501600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:99499800-99502800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:99500000-99502600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:99500400-99501800	Enhancers	HSMMtube	muscle
18	chr3:99500400-99503000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:99500600-99502600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:99501000-99513000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:99501200-99502400	Enhancers	Adipose Nuclei	Adipose
22	chr3:99501400-99501800	Weak transcription	HMEC	breast
23	chr3:99501400-99502000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:99501400-99509000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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