Variant report

Variant	rs41374044
Chromosome Location	chr8:87406823-87406824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87397038..87400131-chr8:87405307..87410193,4	MCF-7	breast:
2	chr8:87403636..87405569-chr8:87405611..87408254,2	MCF-7	breast:
3	chr8:87378503..87381447-chr8:87404870..87407251,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10099858	0.89[CEU][hapmap]
rs10504824	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17607526	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17607671	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17607762	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17609487	1.00[CEU][hapmap]
rs17609515	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs17682190	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17682647	1.00[CEU][hapmap]
rs72688516	0.87[AMR][1000 genomes]
rs72688541	0.81[EUR][1000 genomes]
rs72688543	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688546	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688552	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688554	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688567	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41374044	FAM82B	cis	multi-tissue	Pritchard
rs41374044	CPNE3	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
2	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
3	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
4	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:87381200-87425600	Weak transcription	K562	blood
6	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:87383000-87415000	Weak transcription	NHDF-Ad	bronchial
8	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
9	chr8:87388200-87410600	Weak transcription	HMEC	breast
10	chr8:87388200-87415200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:87388400-87430600	Weak transcription	Fetal Kidney	kidney
12	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
13	chr8:87392200-87409000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:87392400-87407000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:87396200-87415600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:87397400-87431200	Weak transcription	Fetal Brain Female	brain
17	chr8:87398800-87425800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:87399400-87413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:87399600-87423400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:87399800-87429000	Weak transcription	Thymus	Thymus
21	chr8:87400400-87423800	Weak transcription	GM12878-XiMat	blood
22	chr8:87400800-87409800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:87400800-87424000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:87401000-87409000	Weak transcription	HepG2	liver
25	chr8:87401400-87414600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:87402400-87420600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:87402400-87425400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:87402800-87407400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr8:87402800-87408800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:87402800-87412600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:87403000-87407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:87403000-87408400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:87403000-87408400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:87403000-87408800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:87403000-87408800	Weak transcription	Spleen	Spleen
36	chr8:87403000-87420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:87403000-87429000	Weak transcription	Gastric	stomach
38	chr8:87403000-87430600	Weak transcription	Esophagus	oesophagus
39	chr8:87404200-87407400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:87404200-87414200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:87404200-87426600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:87404400-87409000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:87404400-87410800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:87404400-87412600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:87404400-87413400	Weak transcription	Psoas Muscle	Psoas
47	chr8:87404400-87414200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:87404400-87414400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:87404400-87417000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:87404400-87425800	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links