Variant report

Variant	rs682408
Chromosome Location	chr18:39573593-39573594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:39569168..39571730-chr18:39571988..39574019,2	K562	blood:
2	chr18:39565388..39567063-chr18:39572337..39574712,2	K562	blood:
3	chr18:39551994..39554075-chr18:39573084..39575388,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs474605	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs504302	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs682408	CELF4	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536400-39578200	Weak transcription	A549	lung
3	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
6	chr18:39547600-39580600	Weak transcription	Spleen	Spleen
7	chr18:39548000-39576000	Weak transcription	Fetal Brain Male	brain
8	chr18:39548000-39580200	Weak transcription	Pancreas	Pancrea
9	chr18:39548200-39576600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:39548200-39579400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr18:39548200-39580200	Weak transcription	Lung	lung
12	chr18:39548200-39580400	Weak transcription	NHLF	lung
13	chr18:39548400-39576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:39549000-39576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:39549200-39582800	Weak transcription	Psoas Muscle	Psoas
17	chr18:39550400-39577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:39551000-39576200	Weak transcription	Left Ventricle	heart
19	chr18:39551400-39576600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr18:39552800-39580200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:39554200-39574000	Weak transcription	Colon Smooth Muscle	Colon
22	chr18:39554200-39576200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr18:39555200-39573800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr18:39555200-39580200	Weak transcription	Aorta	Aorta
25	chr18:39555600-39573800	Weak transcription	Hela-S3	cervix
26	chr18:39557400-39575400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr18:39558200-39580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:39558200-39580000	Weak transcription	Fetal Intestine Small	intestine
29	chr18:39558200-39580000	Weak transcription	Fetal Stomach	stomach
30	chr18:39558200-39594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:39558200-39603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr18:39562800-39585600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:39563400-39577800	Weak transcription	HMEC	breast
34	chr18:39563800-39576800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr18:39563800-39577200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:39563800-39580400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:39563800-39582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr18:39563800-39583400	Weak transcription	Right Ventricle	heart
39	chr18:39563800-39585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:39564200-39576800	Weak transcription	Fetal Heart	heart
41	chr18:39564200-39586400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:39564600-39577200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:39564600-39577800	Strong transcription	NH-A	brain
44	chr18:39564600-39586600	Strong transcription	Primary B cells from cord blood	blood
45	chr18:39564600-39606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:39565000-39575400	Weak transcription	Brain Angular Gyrus	brain
47	chr18:39565000-39597200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:39565200-39573600	Weak transcription	Fetal Muscle Leg	muscle
49	chr18:39565200-39574800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:39565200-39574800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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