Variant report

Variant	rs17449694
Chromosome Location	chr5:106836310-106836311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10491392	0.82[CEU][hapmap]
rs10491394	0.84[AFR][1000 genomes]
rs17449791	0.84[AFR][1000 genomes]
rs17534089	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17534165	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17534228	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17534235	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs32006	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3890134	0.91[CEU][hapmap]
rs41464645	0.84[AFR][1000 genomes]
rs72789626	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72789627	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72789632	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789644	0.84[AFR][1000 genomes]
rs72789654	0.84[AFR][1000 genomes]
rs730676	0.82[CEU][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:42 , 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	chr5:106823600-106837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:106826600-106838400	Weak transcription	Left Ventricle	heart
7	chr5:106829600-106837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:106830600-106837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:106832600-106837800	Weak transcription	HSMM	muscle
10	chr5:106833200-106839400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:106834000-106836400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:106834000-106836800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:106834000-106837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:106834200-106836800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:106834200-106836800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr5:106834200-106837000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:106834200-106837400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:106834200-106838200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106834200-106840400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:106834400-106836600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:106834400-106840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:106834400-106848600	Weak transcription	HMEC	breast
23	chr5:106834600-106838800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:106835000-106836800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:106835000-106836800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:106835000-106838000	Enhancers	A549	lung
27	chr5:106835200-106839200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:106835400-106836400	Enhancers	Fetal Stomach	stomach
29	chr5:106835400-106837600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:106835400-106838000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:106835600-106836400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr5:106835600-106837200	Flanking Active TSS	HUVEC	blood vessel
33	chr5:106835800-106837600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:106835800-106837600	Enhancers	Fetal Kidney	kidney
35	chr5:106835800-106837800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:106836000-106837400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:106836200-106836400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:106836200-106836400	Enhancers	Aorta	Aorta
39	chr5:106836200-106836600	Enhancers	Stomach Mucosa	stomach
40	chr5:106836200-106837800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:106836200-106838000	Weak transcription	Fetal Heart	heart
42	chr5:106836200-106838400	Weak transcription	Rectal Mucosa Donor 29	rectum

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