Variant report

Variant	rs1474802
Chromosome Location	chr14:31384330-31384331
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:31384059-31384487	HepG2	liver:	n/a	chr14:31384212-31384232
2	MAFK	chr14:31384099-31384368	HepG2	liver:	n/a	chr14:31384212-31384232

Variant related genes	Relation type
STRN3	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129393	0.82[TSI][hapmap]
rs10483360	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1108282	1.00[CHD][hapmap]
rs13122	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17097503	0.90[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097524	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097601	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2179932	0.82[TSI][hapmap]
rs2295131	0.88[GIH][hapmap];0.85[MEX][hapmap]
rs45536734	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45600940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981084	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55687047	0.85[EUR][1000 genomes]
rs55956948	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56240895	0.85[EUR][1000 genomes]
rs56298468	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56862737	0.82[EUR][1000 genomes]
rs59048919	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61508230	0.85[EUR][1000 genomes]
rs6571366	1.00[JPT][hapmap]
rs7140646	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146837	0.88[GIH][hapmap];0.85[MEX][hapmap]
rs7156429	1.00[JPT][hapmap]
rs8022619	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9707664	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1474802	STRN3	cis	cerebellum	SCAN
rs1474802	STRN3	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
5	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
7	chr14:31360200-31435600	Weak transcription	Gastric	stomach
8	chr14:31361600-31384400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
10	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
12	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
14	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
15	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:31364800-31393200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
18	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
20	chr14:31370000-31393600	Weak transcription	Lung	lung
21	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
22	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:31375600-31390000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
25	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
28	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
29	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:31379000-31391000	Weak transcription	Fetal Stomach	stomach
31	chr14:31379000-31393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:31379000-31393600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:31379400-31390000	Weak transcription	NHEK	skin
35	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:31379800-31391400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
42	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:31380400-31386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
45	chr14:31380600-31402600	Weak transcription	HMEC	breast
46	chr14:31380800-31391400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:31381200-31386200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:31381200-31388000	Weak transcription	A549	lung

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