Variant report

Variant	rs1196516
Chromosome Location	chr5:106834567-106834568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1154314	0.92[CHB][hapmap]
rs26244	0.83[JPT][hapmap]
rs26248	1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs26249	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs26252	0.84[CHB][hapmap]
rs27362	0.92[CHB][hapmap]
rs28764	0.83[JPT][hapmap]
rs32005	0.84[CHB][hapmap]
rs32006	1.00[CHB][hapmap]

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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:106820600-106838200	Weak transcription	Fetal Brain Male	brain
3	chr5:106823000-106837600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:106823200-106837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:106823400-106835400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:106823600-106837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:106823800-106835000	Weak transcription	A549	lung
8	chr5:106825800-106835400	Weak transcription	HUVEC	blood vessel
9	chr5:106826600-106838400	Weak transcription	Left Ventricle	heart
10	chr5:106829600-106837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:106829800-106835800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:106830600-106837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:106832600-106837800	Weak transcription	HSMM	muscle
14	chr5:106833200-106835000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:106833200-106839400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:106834000-106834800	Enhancers	Stomach Mucosa	stomach
17	chr5:106834000-106836400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:106834000-106836800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:106834000-106837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:106834200-106834600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:106834200-106835800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:106834200-106836800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:106834200-106836800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:106834200-106837000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:106834200-106837400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:106834200-106838200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:106834200-106840400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:106834400-106834600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:106834400-106835000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:106834400-106836200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:106834400-106836200	Enhancers	Fetal Heart	heart
32	chr5:106834400-106836600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:106834400-106840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:106834400-106848600	Weak transcription	HMEC	breast

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