Variant report

Variant	rs1156029
Chromosome Location	chr5:58781770-58781771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10514863	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12514658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12521370	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1457112	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1506557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs16889876	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16889882	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16889883	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16889885	0.81[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16889896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1848059	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1848060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2034893	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2034894	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2161513	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28424104	0.88[ASN][1000 genomes]
rs28508065	0.88[ASN][1000 genomes]
rs28571683	0.83[ASN][1000 genomes]
rs28706428	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72767785	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7724786	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs931855	0.83[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs992726	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9942415	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1156029	ANKRD55	cis	cerebellum	SCAN

Chromatin state (count:50 , 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	chr5:58774600-58783000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:58776600-58783000	Weak transcription	Fetal Intestine Large	intestine
4	chr5:58777400-58783600	Weak transcription	Psoas Muscle	Psoas
5	chr5:58778600-58783800	Weak transcription	Small Intestine	intestine
6	chr5:58778800-58785000	Enhancers	Fetal Brain Male	brain
7	chr5:58779400-58782200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:58779400-58782200	Enhancers	Brain Germinal Matrix	brain
9	chr5:58779400-58782200	Enhancers	NHEK	skin
10	chr5:58779400-58784400	Enhancers	Fetal Brain Female	brain
11	chr5:58779400-58784400	Enhancers	Fetal Heart	heart
12	chr5:58779600-58781800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:58779600-58783600	Weak transcription	Gastric	stomach
14	chr5:58779600-58783600	Weak transcription	Pancreas	Pancrea
15	chr5:58779600-58783600	Enhancers	Hela-S3	cervix
16	chr5:58779800-58781800	Enhancers	Colon Smooth Muscle	Colon
17	chr5:58779800-58783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:58779800-58783000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:58779800-58783200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:58779800-58783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:58779800-58783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:58780000-58783600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:58780200-58781800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr5:58780200-58782400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:58780600-58781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:58780600-58783200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:58780600-58783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:58780600-58783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:58780600-58783400	Weak transcription	Brain Angular Gyrus	brain
30	chr5:58780600-58783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:58780600-58784600	Enhancers	Fetal Lung	lung
32	chr5:58780800-58782400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:58780800-58783600	Weak transcription	HSMMtube	muscle
34	chr5:58780800-58783600	Weak transcription	NH-A	brain
35	chr5:58780800-58785400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:58781000-58783000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:58781200-58782400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:58781200-58783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:58781200-58783200	Weak transcription	Fetal Kidney	kidney
40	chr5:58781400-58782800	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:58781600-58781800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:58781600-58781800	Enhancers	Fetal Stomach	stomach
43	chr5:58781600-58782000	Enhancers	Brain Anterior Caudate	brain
44	chr5:58781600-58782000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr5:58781600-58782200	Enhancers	Liver	Liver
46	chr5:58781600-58782400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:58781600-58782400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:58781600-58782400	Flanking Active TSS	A549	lung
49	chr5:58781600-58783600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:58781600-58784200	Enhancers	Brain Substantia Nigra	brain

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