Variant report

Variant	rs2679742
Chromosome Location	chr8:103879797-103879798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103879424-103880379	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:103879467-103879822	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:103879762-103880326	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103878528..103880938-chr8:104070739..104073317,2	MCF-7	breast:
2	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
3	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
4	chr8:103878683..103881066-chr8:103911212..103913348,2	MCF-7	breast:

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000155097	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000254236	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10104704	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1055376	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1138	0.83[AFR][1000 genomes]
rs1434235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1714399	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1806299	0.96[CEU][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2164061	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2256440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2436844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2436846	0.85[ASN][1000 genomes]
rs2436847	0.87[ASN][1000 genomes]
rs2436848	0.87[ASN][1000 genomes]
rs2513898	0.84[ASN][1000 genomes]
rs2513913	0.87[ASN][1000 genomes]
rs2513919	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2513921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2513922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.85[ASN][1000 genomes]
rs2513935	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2570942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2570946	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2570947	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570948	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2570949	0.88[AFR][1000 genomes]
rs2570950	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679741	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2679749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2679751	0.87[ASN][1000 genomes]
rs2679752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2679754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2679755	0.99[ASN][1000 genomes]
rs2679756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2679757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2679759	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594922	0.92[ASN][1000 genomes]
rs2916561	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916564	0.84[ASN][1000 genomes]
rs3018956	0.85[ASN][1000 genomes]
rs34655485	0.85[ASN][1000 genomes]
rs491770	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs492770	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs548488	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs551241	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs565720	0.86[YRI][hapmap]
rs567395	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs601588	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs647313	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs665298	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs667927	0.96[CEU][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs678839	0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs7833202	1.00[CEU][hapmap];0.97[YRI][hapmap]
rs892484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs892486	0.84[AFR][1000 genomes]
rs972142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs974759	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2679742	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103880600	Weak transcription	Lung	lung
2	chr8:103877000-103906800	Weak transcription	Gastric	stomach
3	chr8:103877200-103880600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
5	chr8:103877600-103884200	Weak transcription	Aorta	Aorta
6	chr8:103877800-103886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
9	chr8:103878000-103880400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:103878000-103880800	Weak transcription	Fetal Lung	lung
11	chr8:103878000-103881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:103878000-103881000	Weak transcription	HMEC	breast
13	chr8:103878000-103881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:103878000-103887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:103878200-103881000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:103878200-103881600	Weak transcription	A549	lung
19	chr8:103878200-103881600	Weak transcription	Hela-S3	cervix
20	chr8:103878200-103883600	Weak transcription	NHDF-Ad	bronchial
21	chr8:103878200-103883800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:103878200-103884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:103878200-103906600	Weak transcription	Ovary	ovary
26	chr8:103878400-103880600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:103878400-103884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:103878400-103897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:103878600-103880800	Weak transcription	Fetal Heart	heart
30	chr8:103878600-103881200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:103878600-103881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:103878600-103881600	Weak transcription	GM12878-XiMat	blood
33	chr8:103878600-103892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:103878600-103897600	Weak transcription	Fetal Brain Female	brain
35	chr8:103878800-103880600	Weak transcription	Fetal Intestine Large	intestine
36	chr8:103878800-103880800	Weak transcription	NHEK	skin
37	chr8:103878800-103881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:103878800-103884400	Weak transcription	Small Intestine	intestine
39	chr8:103878800-103893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:103878800-103895600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
42	chr8:103879000-103893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
44	chr8:103879400-103879800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:103879600-103879800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:103879600-103879800	Enhancers	Right Atrium	heart
47	chr8:103879600-103879800	Enhancers	Skeletal Muscle Female	skeletal muscle

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