Variant report

Variant	rs34469290
Chromosome Location	chr15:76050820-76050821
allele	C/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	USF1	chr15:76050665-76051234	ECC-1	luminal epithelium:	n/a	chr15:76050877-76050886 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050872-76050893 chr15:76050877-76050888 chr15:76050878-76050887
2	POLR2A	chr15:76050665-76051469	HL-60	blood:	n/a	n/a
3	POLR2A	chr15:76050372-76051516	K562	blood:	n/a	n/a
4	POLR2A	chr15:76050536-76051212	A549	lung:	n/a	n/a
5	CTCF	chr15:76050700-76050850	NHDF-neo	bronchial:	n/a	n/a
6	NFIC	chr15:76050791-76051012	HepG2	liver:	n/a	n/a
7	CTCF	chr15:76050740-76050890	HEK293	kidney:	n/a	n/a
8	CTCF	chr15:76050720-76050870	GM12869	blood:	n/a	n/a
9	CTCF	chr15:76050760-76050910	HBMEC	blood vessel:	n/a	n/a
10	BHLHE40	chr15:76050686-76051100	GM12878	blood:	n/a	chr15:76050877-76050886 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050872-76050893 chr15:76050878-76050887
11	EBF1	chr15:76050725-76051028	GM12878	blood:	n/a	n/a
12	CTCF	chr15:76050720-76050870	HMF	breast:	n/a	n/a
13	REST	chr15:76050551-76051097	A549	lung:	n/a	chr15:76050729-76050742
14	IRF1	chr15:76050592-76051118	K562	blood:	n/a	chr15:76050845-76050859
15	USF1	chr15:76050450-76051126	A549	lung:	n/a	chr15:76050877-76050886 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050872-76050893 chr15:76050877-76050888 chr15:76050567-76050583 chr15:76050878-76050887
16	POLR2A	chr15:76050575-76051142	HepG2	liver:	n/a	n/a
17	CTCF	chr15:76050700-76050850	HCT-116	colon:	n/a	n/a
18	MAX	chr15:76050675-76051386	MCF-7	breast:	n/a	chr15:76050876-76050889 chr15:76050879-76050888 chr15:76050876-76050884 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050877-76050888
19	GABPA	chr15:76050680-76051017	HL-60	blood:	n/a	n/a
20	GABPA	chr15:76050605-76051361	MCF-7	breast:	n/a	n/a
21	ELF1	chr15:76050526-76051149	SK-N-SH	brain:	n/a	chr15:76050825-76050834
22	TAF1	chr15:76050670-76051229	K562	blood:	n/a	n/a
23	EP300	chr15:76050717-76050976	GM12878	blood:	n/a	chr15:76050803-76050819
24	CTCF	chr15:76050760-76050910	HCFaa	heart:	n/a	n/a
25	MAX	chr15:76050685-76051427	K562	blood:	n/a	chr15:76050876-76050889 chr15:76050879-76050888 chr15:76050876-76050884 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050877-76050888
26	CTCF	chr15:76050806-76050822	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr15:76050700-76050850	HCM	heart:	n/a	n/a
28	SIN3AK20	chr15:76050518-76051315	MCF-7	breast:	n/a	n/a
29	TAF1	chr15:76050667-76051038	SK-N-SH	brain:	n/a	n/a
30	TAF1	chr15:76050492-76051253	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr15:76050617-76050992	K562	blood:	n/a	n/a
32	CTCF	chr15:76050769-76050910	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:76050568-76051107	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr15:76050565-76051207	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:76050646-76051117	U87	brain:	n/a	n/a
36	POLR2A	chr15:76050618-76051387	Gliobla	brain:	n/a	n/a
37	CTCF	chr15:76050700-76050850	MCF-7	breast:	n/a	n/a
38	CTCF	chr15:76050820-76050970	HMEC	breast:	n/a	n/a
39	CTCF	chr15:76050760-76050910	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr15:76050740-76050890	GM12872	blood:	n/a	n/a
41	NFE2	chr15:76050717-76050980	GM12878	blood:	n/a	chr15:76050878-76050887
42	SP1	chr15:76050499-76051216	A549	lung:	n/a	chr15:76050848-76050862 chr15:76050847-76050859 chr15:76050847-76050858 chr15:76050848-76050858 chr15:76050847-76050859 chr15:76050849-76050858 chr15:76050848-76050857
43	POLR2A	chr15:76050592-76051120	GM10847	blood:	n/a	n/a
44	GABPA	chr15:76050664-76051209	SK-N-SH	brain:	n/a	n/a
45	STAT3	chr15:76050751-76050901	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr15:76050769-76050911	Kidney_OC	kidney:	n/a	n/a
47	STAT1	chr15:76050721-76051101	GM12878	blood:	n/a	n/a
48	MAX	chr15:76050654-76051241	MCF-7	breast:	n/a	chr15:76050876-76050889 chr15:76050879-76050888 chr15:76050876-76050884 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050876-76050889 chr15:76050878-76050887 chr15:76050877-76050888
49	CTCF	chr15:76050729-76050927	K562	blood:	n/a	n/a
50	CTCF	chr15:76050666-76050989	Spleen_OC	spleen:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76050716..76052261-chr15:76053754..76055876,2	K562	blood:
2	chr15:76050577..76051364-chr19:48824821..48825354,2	NB4	blood:
3	chr1:145382515..145383032-chr15:76050547..76051050,2	Hela-S3	cervix:
4	chr15:76050791..76051406-chr2:101868703..101869519,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000260288	TF binding region
ENSG00000201558	Chromatin interaction
ENSG00000158435	Chromatin interaction
ENSG00000105479	Chromatin interaction
ENSG00000204634	Chromatin interaction
ENSG00000261043	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10163112	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10519109	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852472	0.82[ASN][1000 genomes]
rs11852712	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11854305	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11858818	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898509	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899163	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12899303	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12900007	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12900167	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12903661	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904654	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12905062	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905730	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13329104	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1823175	0.91[ASN][1000 genomes]
rs1850261	0.91[ASN][1000 genomes]
rs1964473	0.89[ASN][1000 genomes]
rs1964474	0.88[ASN][1000 genomes]
rs1996302	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1996303	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2002668	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2004630	0.88[ASN][1000 genomes]
rs2004920	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2009508	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010392	0.93[ASN][1000 genomes]
rs2017312	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290484	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2405718	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2405719	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2405882	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28404806	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28541422	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615348	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28651447	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657001	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688252	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28695212	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28695716	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28744558	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28833005	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28837134	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34243492	0.89[ASN][1000 genomes]
rs34402412	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34571038	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34605750	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611707	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34909574	0.81[ASN][1000 genomes]
rs34941412	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35019194	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135316	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35136767	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35147271	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35237189	0.82[ASN][1000 genomes]
rs35411779	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35575236	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35745834	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35842909	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35880865	0.82[ASN][1000 genomes]
rs36057011	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751536	0.82[ASN][1000 genomes]
rs3845233	0.88[ASN][1000 genomes]
rs3845234	0.88[ASN][1000 genomes]
rs3850092	0.89[ASN][1000 genomes]
rs3861184	0.91[ASN][1000 genomes]
rs4503758	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55744943	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57905971	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60214227	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66838310	0.89[ASN][1000 genomes]
rs67908345	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71403504	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71403505	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs71462532	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7163633	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7165531	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7181595	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74026532	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8026234	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027311	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8028002	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8037672	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8041390	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8041670	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv974599	chr15:76033068-76101142	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76050000-76051200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:76050000-76051800	Active TSS	Fetal Kidney	kidney
3	chr15:76050200-76051200	Active TSS	Adipose Nuclei	Adipose
4	chr15:76050200-76051200	Active TSS	Aorta	Aorta
5	chr15:76050200-76051200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:76050200-76051200	Active TSS	Right Atrium	heart
7	chr15:76050200-76051400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:76050200-76051400	Active TSS	Brain Hippocampus Middle	brain
9	chr15:76050200-76051400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr15:76050200-76051400	Active TSS	Duodenum Mucosa	Duodenum
11	chr15:76050200-76051400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr15:76050200-76051400	Active TSS	Stomach Smooth Muscle	stomach
13	chr15:76050200-76051400	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr15:76050200-76051600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:76050200-76051600	Active TSS	Brain Angular Gyrus	brain
16	chr15:76050200-76051600	Active TSS	Brain Anterior Caudate	brain
17	chr15:76050200-76051600	Active TSS	Rectal Smooth Muscle	rectum
18	chr15:76050200-76051800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr15:76050200-76051800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:76050200-76051800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr15:76050400-76051000	Active TSS	Fetal Muscle Leg	muscle
22	chr15:76050400-76051200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr15:76050400-76051200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr15:76050400-76051200	Active TSS	HSMMtube	muscle
25	chr15:76050400-76051200	Active TSS	HUVEC	blood vessel
26	chr15:76050400-76051200	Active TSS	NHDF-Ad	bronchial
27	chr15:76050400-76051200	Active TSS	NHLF	lung
28	chr15:76050400-76051400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr15:76050400-76051400	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr15:76050400-76051400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr15:76050400-76051400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:76050400-76051400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr15:76050400-76051400	Active TSS	Brain Germinal Matrix	brain
34	chr15:76050400-76051400	Active TSS	Brain Substantia Nigra	brain
35	chr15:76050400-76051400	Active TSS	Colon Smooth Muscle	Colon
36	chr15:76050400-76051400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr15:76050400-76051400	Active TSS	Fetal Lung	lung
38	chr15:76050400-76051400	Active TSS	Psoas Muscle	Psoas
39	chr15:76050400-76051600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:76050400-76051600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:76050400-76051600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr15:76050400-76051600	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr15:76050400-76051600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:76050400-76051600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:76050400-76051600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:76050400-76051600	Active TSS	Brain Cingulate Gyrus	brain
47	chr15:76050400-76051600	Active TSS	Fetal Brain Female	brain
48	chr15:76050400-76051600	Active TSS	Thymus	Thymus
49	chr15:76050400-76051600	Active TSS	GM12878-XiMat	blood
50	chr15:76050400-76051600	Active TSS	NH-A	brain

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