Variant report

Variant	rs793437
Chromosome Location	chr3:99559854-99559855
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	chr3:99534022..99536899-chr3:99557562..99559888,2	K562	blood:
2	chr3:99558033..99560301-chr3:99564115..99565654,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11719468	0.82[ASN][1000 genomes]
rs1287284	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13059754	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1384062	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1718235	0.83[ASN][1000 genomes]
rs2638948	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35422475	0.81[AMR][1000 genomes]
rs4577503	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4928150	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4928230	0.82[ASN][1000 genomes]
rs4928235	0.80[AMR][1000 genomes]
rs7613864	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793439	0.83[ASN][1000 genomes]
rs793443	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793446	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793456	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs793464	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793475	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793476	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793497	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs793502	0.83[ASN][1000 genomes]
rs796976	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs813218	0.83[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs793437	C3orf26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99562600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
3	chr3:99537800-99561800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:99537800-99562400	Weak transcription	Left Ventricle	heart
5	chr3:99538000-99563600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:99538200-99584600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:99543000-99562600	Weak transcription	Placenta	Placenta
8	chr3:99544200-99561800	Weak transcription	NHLF	lung
9	chr3:99544200-99564800	Weak transcription	K562	blood
10	chr3:99544400-99561800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:99544400-99561800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:99545000-99562000	Weak transcription	HSMM	muscle
13	chr3:99551000-99561800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:99551200-99560200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:99551200-99566000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:99551600-99562600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:99552400-99561600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:99552800-99561600	Weak transcription	Fetal Stomach	stomach
19	chr3:99552800-99561600	Weak transcription	Osteobl	bone
20	chr3:99552800-99561800	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:99552800-99562000	Weak transcription	Adipose Nuclei	Adipose
22	chr3:99552800-99562400	Weak transcription	Pancreas	Pancrea
23	chr3:99553000-99561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:99554000-99562400	Weak transcription	GM12878-XiMat	blood
25	chr3:99554800-99561600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:99554800-99561800	Weak transcription	Hela-S3	cervix
27	chr3:99555800-99562000	Weak transcription	Ovary	ovary
28	chr3:99556600-99562000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:99557000-99562000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:99557000-99573600	Weak transcription	Small Intestine	intestine
31	chr3:99557200-99561600	Weak transcription	Fetal Intestine Small	intestine
32	chr3:99557200-99567200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:99557400-99561800	Weak transcription	Fetal Intestine Large	intestine
34	chr3:99557400-99562000	Weak transcription	Aorta	Aorta
35	chr3:99557400-99562000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:99558000-99562000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:99558000-99562400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:99558400-99561800	Weak transcription	HSMMtube	muscle
39	chr3:99558800-99561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:99558800-99565000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:99559000-99561600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:99559000-99561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:99559000-99561800	Weak transcription	NHEK	skin
44	chr3:99559000-99562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:99559000-99562400	Weak transcription	Psoas Muscle	Psoas
46	chr3:99559000-99578000	Weak transcription	HMEC	breast

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