Variant report

Variant	rs17824094
Chromosome Location	chr14:77892961-77892962
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	CEBPB	chr14:77892935-77893028	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77884155..77885856-chr14:77891489..77893112,2	K562	blood:
2	chr14:77889939..77893252-chr14:77901202..77905310,4	MCF-7	breast:
3	chr14:77886973..77888948-chr14:77891766..77893431,2	K562	blood:

Variant related genes	Relation type
NOXRED1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10130481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10133824	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs10146635	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151003	0.80[EUR][1000 genomes]
rs10483882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11159260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11845345	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11846861	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881960	0.81[EUR][1000 genomes]
rs12885247	1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891485	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12892329	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176771	0.81[EUR][1000 genomes]
rs17750993	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1967638	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28599756	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602758	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33915834	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34835605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35311406	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3825694	0.88[GIH][hapmap];0.86[MKK][hapmap]
rs45527334	0.93[AFR][1000 genomes]
rs45540040	0.93[AFR][1000 genomes]
rs67479808	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71413461	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71413462	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7145606	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146543	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs760252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8003282	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1362	chr14:77853202-77898605	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17824094	ISM2	cis	parietal	SCAN
rs17824094	C14orf148	cis	cerebellum	SCAN
rs17824094	TMED8	cis	Skin Sun Exposed Lower leg	GTEx
rs17824094	AHSA1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77880400-77894400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77883800-77893200	Weak transcription	K562	blood
3	chr14:77886600-77895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:77886600-77896200	Strong transcription	A549	lung
5	chr14:77886800-77893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:77887000-77896000	Strong transcription	Brain Germinal Matrix	brain
7	chr14:77887000-77919800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:77887000-77920400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:77887200-77896600	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr14:77887200-77904200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:77887200-77910800	Strong transcription	Primary B cells from cord blood	blood
12	chr14:77887200-77920200	Strong transcription	Placenta	Placenta
13	chr14:77887200-77920600	Strong transcription	Primary T cells from cord blood	blood
14	chr14:77887400-77896200	Strong transcription	Left Ventricle	heart
15	chr14:77887400-77896400	Strong transcription	Ovary	ovary
16	chr14:77887400-77904200	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:77887400-77904400	Strong transcription	Adipose Nuclei	Adipose
18	chr14:77887400-77920000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr14:77887400-77920400	Strong transcription	Liver	Liver
20	chr14:77887600-77896200	Strong transcription	Brain Cingulate Gyrus	brain
21	chr14:77887600-77904200	Strong transcription	Brain Hippocampus Middle	brain
22	chr14:77887600-77904400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:77887600-77904400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr14:77887600-77913000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:77887600-77920000	Strong transcription	Fetal Intestine Large	intestine
26	chr14:77887800-77898000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:77887800-77904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:77887800-77904400	Strong transcription	Brain Angular Gyrus	brain
29	chr14:77887800-77920000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:77888000-77896400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:77888000-77904000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:77888000-77904200	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:77888000-77904200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:77888000-77920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:77888200-77903800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:77888200-77920400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr14:77888400-77893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:77888400-77896200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:77888400-77904400	Strong transcription	Fetal Brain Female	brain
40	chr14:77888400-77920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr14:77888600-77896200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:77888600-77896200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:77888600-77896200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:77888600-77896200	Strong transcription	Fetal Stomach	stomach
45	chr14:77888600-77896200	Strong transcription	Fetal Thymus	thymus
46	chr14:77888600-77896200	Strong transcription	Lung	lung
47	chr14:77888600-77896200	Strong transcription	Pancreas	Pancrea
48	chr14:77888600-77896200	Strong transcription	HSMM	muscle
49	chr14:77888600-77898800	Strong transcription	GM12878-XiMat	blood
50	chr14:77888600-77903000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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