Variant report

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

rs_ID	r²[population]
rs1457110	1.00[MEX][hapmap]
rs16889849	1.00[MEX][hapmap]
rs16889906	1.00[MEX][hapmap]
rs16890021	1.00[MEX][hapmap]
rs37572	0.81[CHB][hapmap]
rs37573	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[ASN][1000 genomes]
rs37574	0.81[CHB][hapmap]
rs37575	0.81[CHB][hapmap]
rs37576	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58815400-58830400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:58819000-58832600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58820000-58831400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:58822200-58838800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:58822800-58837600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:58823000-58838200	Weak transcription	Fetal Brain Male	brain
7	chr5:58824200-58831400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:58824200-58834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:58824800-58836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:58825000-58838600	Weak transcription	HSMMtube	muscle
11	chr5:58825400-58830400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:58828200-58836200	Genic enhancers	A549	lung
13	chr5:58828600-58829600	Enhancers	Brain Substantia Nigra	brain
14	chr5:58828600-58830400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58828800-58829600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:58828800-58834200	Weak transcription	Psoas Muscle	Psoas
17	chr5:58828800-58838800	Weak transcription	Gastric	stomach
18	chr5:58829200-58829400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:58829200-58829600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:58829200-58830000	Weak transcription	Brain Angular Gyrus	brain

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