Variant report

Variant	rs331067
Chromosome Location	chr5:127792031-127792032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10040225	0.82[YRI][hapmap]
rs11241959	0.80[JPT][hapmap];0.90[YRI][hapmap]
rs12656510	0.95[JPT][hapmap]
rs12658318	0.84[JPT][hapmap]
rs1435514	0.82[YRI][hapmap]
rs17677603	0.90[YRI][hapmap]
rs1858079	0.82[YRI][hapmap]
rs2409539	0.82[YRI][hapmap]
rs2898207	0.81[AMR][1000 genomes]
rs4836373	0.80[JPT][hapmap];0.90[YRI][hapmap]
rs6595828	0.82[YRI][hapmap]
rs6859216	0.80[YRI][hapmap]
rs6892983	0.82[YRI][hapmap]
rs764368	0.82[YRI][hapmap]
rs7719223	0.82[YRI][hapmap]
rs7721622	1.00[YRI][hapmap]
rs7726680	0.82[YRI][hapmap]
rs7734008	0.82[YRI][hapmap]

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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1015650	chr5:127745955-127866566	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs331067	ZNF608	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127773000-127809400	Weak transcription	HMEC	breast
4	chr5:127773400-127830000	Weak transcription	NHEK	skin
5	chr5:127777200-127793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:127779400-127807400	Weak transcription	Fetal Kidney	kidney
7	chr5:127780400-127806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:127780800-127805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:127782400-127796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:127784000-127795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:127784000-127826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:127786000-127797800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:127786400-127799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:127787000-127793000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:127787200-127798200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:127787400-127806200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:127788800-127792400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:127788800-127810600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:127789000-127793200	Enhancers	Fetal Stomach	stomach
20	chr5:127789400-127794200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:127789600-127802800	Weak transcription	Left Ventricle	heart
22	chr5:127790600-127793800	Enhancers	Fetal Heart	heart
23	chr5:127790600-127802200	Weak transcription	Fetal Lung	lung
24	chr5:127790800-127792800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:127791000-127792200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:127791000-127792600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:127791200-127792200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:127791200-127792400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:127791400-127792200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:127791400-127792400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:127791400-127792400	Enhancers	Fetal Muscle Trunk	muscle
32	chr5:127791400-127792600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:127791400-127792600	Enhancers	Fetal Muscle Leg	muscle
34	chr5:127791400-127793600	Weak transcription	Fetal Intestine Small	intestine
35	chr5:127791600-127793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:127791800-127792200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:127791800-127792400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:127792000-127792400	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links