Variant report

Variant	rs8013541
Chromosome Location	chr14:67640571-67640572
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10138850	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs10138865	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1290900	0.82[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs17248421	0.83[CHB][hapmap]
rs1918483	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1952337	0.82[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3866760	0.83[CHB][hapmap]
rs6573752	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs6573755	0.83[CHB][hapmap]
rs7141519	0.83[JPT][hapmap]
rs7146638	0.82[CHB][hapmap]
rs7161664	0.83[JPT][hapmap]
rs8010261	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs8019510	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	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
rs8013541	FAM71D	cis	cerebellum	SCAN
rs8013541	EIF2S1	cis	lymphoblastoid	seeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67600800-67647400	Weak transcription	Fetal Kidney	kidney
2	chr14:67614400-67653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:67618400-67658200	Weak transcription	Brain Angular Gyrus	brain
4	chr14:67630000-67645600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:67631600-67645800	Weak transcription	Psoas Muscle	Psoas
6	chr14:67633200-67645400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:67634600-67653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:67635000-67652800	Weak transcription	NHEK	skin
9	chr14:67635000-67653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:67635200-67645200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:67636200-67645400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:67638000-67645400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:67639400-67640600	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr14:67639400-67646200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:67639600-67647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:67639600-67647400	Weak transcription	Right Ventricle	heart
17	chr14:67639600-67658600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:67639800-67647400	Weak transcription	Gastric	stomach
19	chr14:67640000-67641800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:67640000-67643800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:67640000-67647000	Weak transcription	Pancreas	Pancrea
22	chr14:67640200-67640600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr14:67640200-67640800	Weak transcription	Fetal Brain Male	brain
24	chr14:67640200-67645800	Weak transcription	Fetal Stomach	stomach
25	chr14:67640200-67646000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:67640200-67649600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:67640400-67641200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:67640400-67645200	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:67640400-67645400	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:67640400-67645600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:67640400-67645600	Weak transcription	Aorta	Aorta
32	chr14:67640400-67645600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr14:67640400-67645600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:67640400-67646200	Weak transcription	Ovary	ovary
35	chr14:67640400-67646800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:67640400-67647400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links