Variant report

Variant	rs17796734
Chromosome Location	chr5:58783343-58783344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10514861	1.00[JPT][hapmap]
rs10514862	1.00[JPT][hapmap]
rs13180690	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[ASN][1000 genomes]
rs167161	1.00[CHB][hapmap]
rs16889907	1.00[JPT][hapmap]
rs16889919	1.00[JPT][hapmap]
rs16889921	1.00[JPT][hapmap]
rs28725359	0.86[ASN][1000 genomes]
rs58922738	0.86[ASN][1000 genomes]
rs6885378	1.00[JPT][hapmap]
rs6896121	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7706227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7707043	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17796734	ANXA3	trans	lymphoblastoid	seeQTL
rs17796734	HHIP	trans	lymphoblastoid	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58774000-58783600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:58777400-58783600	Weak transcription	Psoas Muscle	Psoas
3	chr5:58778600-58783800	Weak transcription	Small Intestine	intestine
4	chr5:58778800-58785000	Enhancers	Fetal Brain Male	brain
5	chr5:58779400-58784400	Enhancers	Fetal Brain Female	brain
6	chr5:58779400-58784400	Enhancers	Fetal Heart	heart
7	chr5:58779600-58783600	Weak transcription	Gastric	stomach
8	chr5:58779600-58783600	Weak transcription	Pancreas	Pancrea
9	chr5:58779600-58783600	Enhancers	Hela-S3	cervix
10	chr5:58779800-58783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:58780000-58783600	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:58780600-58783400	Weak transcription	Brain Angular Gyrus	brain
13	chr5:58780600-58783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:58780600-58784600	Enhancers	Fetal Lung	lung
15	chr5:58780800-58783600	Weak transcription	HSMMtube	muscle
16	chr5:58780800-58783600	Weak transcription	NH-A	brain
17	chr5:58780800-58785400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:58781600-58783600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:58781600-58784200	Enhancers	Brain Substantia Nigra	brain
20	chr5:58782000-58783800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:58782200-58783400	Weak transcription	Liver	Liver
22	chr5:58782400-58783400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:58782400-58784000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:58782400-58784000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:58782600-58783600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:58782600-58784000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr5:58782800-58783800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:58782800-58784000	Enhancers	Brain Hippocampus Middle	brain
29	chr5:58782800-58784200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:58783000-58783800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:58783000-58783800	Enhancers	Fetal Intestine Large	intestine
32	chr5:58783000-58784000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:58783000-58784000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:58783000-58784400	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:58783000-58784400	Enhancers	Stomach Mucosa	stomach
36	chr5:58783000-58784400	Flanking Active TSS	A549	lung
37	chr5:58783000-58784800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:58783200-58783600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:58783200-58783600	Enhancers	Brain Anterior Caudate	brain
40	chr5:58783200-58783800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr5:58783200-58783800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:58783200-58784000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:58783200-58784000	Enhancers	Fetal Kidney	kidney
44	chr5:58783200-58784200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:58783200-58784600	Enhancers	Colon Smooth Muscle	Colon
46	chr5:58783200-58785400	Weak transcription	Brain Germinal Matrix	brain

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