Variant report

Variant	rs4349736
Chromosome Location	chr5:166723480-166723481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PANK3-8	chr5:166723239-166723548	ENSG00000254297.1

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10043619	1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10462891	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10475839	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11739327	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13355217	1.00[CEU][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4075224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56857681	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59094139	0.93[EUR][1000 genomes]
rs61241624	0.93[EUR][1000 genomes]
rs6865179	0.89[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7341056	0.81[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7730469	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7731005	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv869374	chr5:166488702-166817411	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032183	chr5:166612188-166732287	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv883100	chr5:166718807-166808602	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4349736	LOC257358	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:166720400-166724000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:166720600-166724000	Enhancers	Fetal Lung	lung
3	chr5:166720800-166724600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:166720800-166724600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:166720800-166724800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:166721000-166724400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:166721000-166724600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:166721000-166724600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:166721200-166723800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:166721400-166724000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:166721400-166724000	Enhancers	HSMM	muscle
12	chr5:166721400-166724000	Enhancers	HSMMtube	muscle
13	chr5:166721400-166724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:166721600-166724600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:166721800-166723800	Enhancers	Adipose Nuclei	Adipose
16	chr5:166721800-166724000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:166721800-166724000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:166721800-166724000	Enhancers	Brain Hippocampus Middle	brain
19	chr5:166722000-166723800	Flanking Active TSS	Hela-S3	cervix
20	chr5:166722200-166723600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr5:166722200-166723600	Enhancers	Brain Substantia Nigra	brain
22	chr5:166722200-166724000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:166722400-166724200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:166722400-166724600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:166722600-166723600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:166722600-166723600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:166722600-166723800	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:166722600-166723800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:166722600-166724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:166722600-166724000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:166722600-166724000	Enhancers	HMEC	breast
32	chr5:166722600-166724000	Enhancers	HUVEC	blood vessel
33	chr5:166722600-166724000	Enhancers	Osteobl	bone
34	chr5:166722600-166724400	Enhancers	NHLF	lung
35	chr5:166722600-166724600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:166722800-166723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:166722800-166724000	Enhancers	NH-A	brain
38	chr5:166722800-166724000	Enhancers	NHEK	skin
39	chr5:166722800-166724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:166722800-166724600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:166722800-166729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:166723000-166723600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:166723000-166724000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:166723000-166724000	Enhancers	A549	lung
45	chr5:166723000-166724400	Enhancers	NHDF-Ad	bronchial
46	chr5:166723200-166723600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:166723200-166723600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:166723200-166724000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:166723200-166724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:166723200-166724400	Enhancers	Small Intestine	intestine

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