Variant report

Variant	rs17660955
Chromosome Location	chr14:31810560-31810561
allele	G/T
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	chr14:31810372-31810945	A549	lung:	n/a	chr14:31810655-31810666
2	CEBPB	chr14:31810493-31810822	Hela-S3	cervix:	n/a	chr14:31810655-31810666
3	CEBPB	chr14:31810549-31810753	HepG2	liver:	n/a	chr14:31810655-31810666
4	CEBPB	chr14:31810442-31810840	MCF-7	breast:	n/a	chr14:31810655-31810666
5	CEBPB	chr14:31810527-31810822	A549	lung:	n/a	chr14:31810655-31810666
6	CEBPB	chr14:31810537-31810823	H1-hESC	embryonic stem cell:	n/a	chr14:31810655-31810666
7	CEBPB	chr14:31810502-31810827	HepG2	liver:	n/a	chr14:31810655-31810666
8	CEBPB	chr14:31810516-31810766	ECC-1	luminal epithelium:	n/a	chr14:31810655-31810666
9	CEBPB	chr14:31810526-31810814	IMR90	lung:	n/a	chr14:31810655-31810666
10	CEBPB	chr14:31810500-31810828	HepG2	liver:	n/a	chr14:31810655-31810666
11	CEBPB	chr14:31810508-31810870	HepG2	liver:	n/a	chr14:31810655-31810666
12	CEBPB	chr14:31810543-31810795	K562	blood:	n/a	chr14:31810655-31810666

No.	Distal block	Cell Line	Cell type
1	chr14:31805474..31808119-chr14:31809576..31811915,2	K562	blood:
2	chr14:31805474..31807050-chr14:31809442..31811076,2	K562	blood:
3	chr14:31674459..31678432-chr14:31805100..31811566,8	MCF-7	breast:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000092148	Chromatin interaction
ENSG00000129493	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10147938	0.95[EUR][1000 genomes]
rs11626839	1.00[CHB][hapmap]
rs12886167	0.85[EUR][1000 genomes]
rs12886725	0.85[EUR][1000 genomes]
rs12892246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12895352	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17577629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17660791	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2146570	1.00[CHB][hapmap]
rs2181420	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182252	0.83[EUR][1000 genomes]
rs2182253	0.84[EUR][1000 genomes]
rs34159200	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34737578	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34777795	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35330064	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35335466	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35474202	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35628255	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35952505	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41496248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4981832	1.00[ASN][1000 genomes]
rs4981841	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61994183	0.85[EUR][1000 genomes]
rs61995529	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61995554	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61996784	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs727671	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927704	0.84[EUR][1000 genomes];1.00[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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17660955	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
2	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
6	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
8	chr14:31782200-31875200	Weak transcription	Gastric	stomach
9	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
10	chr14:31791200-31812600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:31799600-31827000	Weak transcription	Right Ventricle	heart
12	chr14:31799800-31811800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:31799800-31814400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:31799800-31815600	Weak transcription	Colonic Mucosa	Colon
15	chr14:31799800-31829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
17	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:31800800-31812200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:31801000-31812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:31801000-31812800	Weak transcription	HMEC	breast
22	chr14:31801200-31812600	Weak transcription	Brain Angular Gyrus	brain
23	chr14:31801200-31823400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
25	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
27	chr14:31801600-31824000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:31801800-31811600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:31801800-31824400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:31802400-31825000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:31802400-31827200	Weak transcription	Brain Substantia Nigra	brain
34	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:31802600-31825000	Weak transcription	GM12878-XiMat	blood
36	chr14:31802800-31811600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
38	chr14:31803200-31811200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:31803200-31814200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:31803400-31810600	Weak transcription	Fetal Intestine Small	intestine
41	chr14:31803400-31817600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:31803600-31813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:31803600-31813600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:31803600-31825000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:31803800-31810800	Weak transcription	Fetal Muscle Leg	muscle
48	chr14:31803800-31811400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:31803800-31811400	Weak transcription	NH-A	brain
50	chr14:31803800-31812000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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