Variant report

Variant	rs1531508
Chromosome Location	chr3:110813503-110813504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1871024	1.00[YRI][hapmap]
rs4682228	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4682232	0.93[AFR][1000 genomes]
rs6414247	1.00[AFR][1000 genomes]
rs717160	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs723024	0.81[AFR][1000 genomes]
rs72934082	0.81[AFR][1000 genomes]
rs9824422	1.00[AFR][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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110794400-110813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:110799800-110820600	Weak transcription	A549	lung
3	chr3:110800200-110817200	Weak transcription	Gastric	stomach
4	chr3:110802000-110822600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:110804000-110817200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:110804200-110814200	Weak transcription	Fetal Intestine Large	intestine
7	chr3:110805000-110833600	Weak transcription	NHDF-Ad	bronchial
8	chr3:110807000-110815400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:110807200-110814600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:110807200-110815400	Weak transcription	Psoas Muscle	Psoas
11	chr3:110807200-110822600	Weak transcription	Fetal Lung	lung
12	chr3:110807400-110815200	Weak transcription	Fetal Heart	heart
13	chr3:110808600-110817200	Weak transcription	Small Intestine	intestine
14	chr3:110808800-110813600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:110810400-110816400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:110812000-110814000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:110812400-110815800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:110812600-110815200	ZNF genes & repeats	Dnd41	blood
19	chr3:110813000-110816200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr3:110813200-110813800	Enhancers	Colon Smooth Muscle	Colon
21	chr3:110813200-110814200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:110813200-110814200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr3:110813200-110814200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:110813200-110816000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr3:110813400-110813800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:110813400-110813800	Enhancers	Adipose Nuclei	Adipose
27	chr3:110813400-110813800	Enhancers	Ovary	ovary
28	chr3:110813400-110814200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr3:110813400-110814400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:110813400-110816000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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