Variant report

Variant	rs10775471
Chromosome Location	chr18:39583699-39583700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:39580973..39583765-chr18:39598870..39601571,2	K562	blood:
2	chr18:39577574..39581097-chr18:39583166..39586037,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10221315	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10468957	0.80[EUR][1000 genomes]
rs11082255	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11082257	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12455038	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12455083	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12455780	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12456084	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12456573	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12456761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12456934	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12457082	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12457086	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12457354	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12457525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12964834	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12964931	0.80[EUR][1000 genomes]
rs12966303	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13381503	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1368025	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1432138	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1557418	0.80[EUR][1000 genomes]
rs16975431	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16975474	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1897396	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1897397	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1941526	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1941532	0.81[EUR][1000 genomes]
rs1942151	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1942152	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984366	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1984367	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2043220	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2156015	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2334943	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34966612	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4890221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4890377	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4890378	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890379	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5004531	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs510946	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569983	0.85[EUR][1000 genomes]
rs57794431	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581950	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60861018	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61107251	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62082282	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62082880	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs627099	0.85[EUR][1000 genomes]
rs639660	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650586	0.85[EUR][1000 genomes]
rs6507451	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs657164	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs667503	0.85[EUR][1000 genomes]
rs66960332	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7237459	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7239288	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7241193	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7504589	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8093251	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304263	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9807114	0.80[EUR][1000 genomes]
rs9807279	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9807400	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9807487	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9948913	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9989595	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

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
rs10775471	CELF4	cis	cerebellum	SCAN

Chromatin state (count:125 , 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	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:39558200-39594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:39558200-39603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr18:39562800-39585600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:39563800-39585200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:39564200-39586400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:39564600-39586600	Strong transcription	Primary B cells from cord blood	blood
10	chr18:39564600-39606400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:39565000-39597200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:39567000-39587200	Strong transcription	Liver	Liver
13	chr18:39568000-39588400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr18:39568000-39588600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr18:39568000-39588800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:39569200-39586400	Strong transcription	Dnd41	blood
17	chr18:39570800-39587200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
19	chr18:39573200-39585800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr18:39573200-39588000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:39573200-39588200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:39573200-39592000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr18:39573400-39586400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:39573400-39586600	Strong transcription	Adipose Nuclei	Adipose
25	chr18:39573400-39587200	Strong transcription	Fetal Intestine Large	intestine
26	chr18:39573400-39592200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:39573600-39587400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:39573800-39588600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr18:39574800-39589600	Strong transcription	GM12878-XiMat	blood
30	chr18:39574800-39603600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr18:39575200-39586400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:39575400-39586600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr18:39575600-39586800	Strong transcription	Primary T cells from cord blood	blood
34	chr18:39577200-39603400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr18:39577400-39588400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:39577400-39610000	Weak transcription	Fetal Brain Male	brain
37	chr18:39578000-39587000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:39578000-39595400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr18:39578200-39583800	Weak transcription	HMEC	breast
40	chr18:39578400-39586400	Strong transcription	HSMM	muscle
41	chr18:39578400-39588000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:39578400-39591800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
44	chr18:39578600-39601800	Weak transcription	A549	lung
45	chr18:39579000-39585000	Weak transcription	HUVEC	blood vessel
46	chr18:39579400-39585400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr18:39579400-39586600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:39579400-39587000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:39579800-39585200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:39580200-39587200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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