Variant report

Variant	rs60138856
Chromosome Location	chr5:9418478-9418479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17324408	0.94[AFR][1000 genomes]
rs57159345	0.94[AFR][1000 genomes]
rs57383634	0.94[AFR][1000 genomes]
rs59358354	0.89[AFR][1000 genomes]
rs61708249	1.00[AMR][1000 genomes]
rs73034712	1.00[AMR][1000 genomes]
rs73034775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034796	0.94[AFR][1000 genomes]
rs73034801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052659	1.00[AMR][1000 genomes]
rs73052666	1.00[AMR][1000 genomes]
rs73052672	1.00[AMR][1000 genomes]
rs73052674	1.00[AMR][1000 genomes]
rs73052677	1.00[AMR][1000 genomes]
rs73052679	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1020815	chr5:9135207-9425649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer 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
10	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1016885	chr5:9218932-9575594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026078	chr5:9222811-9591290	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9374800-9418600	Weak transcription	Aorta	Aorta
2	chr5:9379000-9434800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:9379000-9436200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:9380200-9429800	Weak transcription	Ovary	ovary
5	chr5:9380400-9418600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:9380400-9418800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:9380600-9419400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:9387000-9418800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:9390200-9419200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:9392200-9419000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:9395800-9450200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:9397000-9419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:9398600-9435600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:9404600-9422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:9408000-9419400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:9408400-9419400	Weak transcription	Esophagus	oesophagus
17	chr5:9409600-9422000	Weak transcription	Fetal Kidney	kidney
18	chr5:9410000-9419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:9410000-9422200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:9411000-9430400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:9411600-9418600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:9411600-9419000	Weak transcription	Fetal Heart	heart
23	chr5:9411600-9419600	Weak transcription	Fetal Stomach	stomach
24	chr5:9411800-9426800	Weak transcription	Fetal Intestine Large	intestine
25	chr5:9415200-9422000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:9415400-9423600	Weak transcription	NHLF	lung
27	chr5:9415600-9418600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:9416600-9418800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:9416600-9419000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:9416800-9419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:9417000-9418600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:9417600-9422000	Weak transcription	Osteobl	bone
33	chr5:9417800-9438600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:9418200-9421400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:9418400-9419800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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