Variant report

Variant	rs10519929
Chromosome Location	chr5:126625758-126625759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:197)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:197 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:126625660-126625810	GM12864	blood:	n/a	n/a
2	CTCF	chr5:126625720-126625870	HPF	lung:	n/a	n/a
3	CTCF	chr5:126625700-126625850	AG09319	gingival:	n/a	n/a
4	CTCF	chr5:126625740-126625890	GM12872	blood:	n/a	n/a
5	CTCF	chr5:126625680-126625830	HFF-Myc	foreskin:	n/a	n/a
6	BACH1	chr5:126625661-126626405	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:126625700-126625878	Lung_OC	lung:	n/a	n/a
8	CTCF	chr5:126625620-126625770	WI-38	lung:	n/a	n/a
9	CTCF	chr5:126625661-126625925	LNCaP	prostate:	n/a	n/a
10	CTCF	chr5:126625640-126625790	NB4	blood:	n/a	n/a
11	CTCF	chr5:126625680-126625956	NHEK	skin:	n/a	n/a
12	CTCF	chr5:126625658-126625922	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr5:126625569-126626081	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:126625700-126625850	HMF	breast:	n/a	n/a
15	CTCF	chr5:126625570-126625976	A549	lung:	n/a	n/a
16	CTCF	chr5:126625720-126625870	NHEK	skin:	n/a	n/a
17	CTCF	chr5:126625690-126625933	GM19239	blood:	n/a	n/a
18	CTCF	chr5:126625660-126625810	MCF-7	breast:	n/a	n/a
19	JUND	chr5:126625629-126625946	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr5:126625740-126625890	RPTEC	kidney:	n/a	n/a
21	CTCF	chr5:126625700-126625850	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr5:126625720-126625870	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr5:126625740-126625890	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr5:126625720-126625870	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr5:126625680-126625830	GM12872	blood:	n/a	n/a
26	CTCF	chr5:126625639-126625993	Gliobla	brain:	n/a	n/a
27	RAD21	chr5:126625512-126626082	H1-hESC	embryonic stem cell:	n/a	chr5:126625793-126625812 chr5:126625773-126625786
28	CTCF	chr5:126625700-126625850	AG10803	skin:	n/a	n/a
29	CTCF	chr5:126625720-126625870	AG04450	lung:	n/a	n/a
30	CTCF	chr5:126625663-126625924	GM12878	blood:	n/a	n/a
31	CTCF	chr5:126625632-126625884	HepG2	liver:	n/a	n/a
32	CTCF	chr5:126625720-126625870	BE2_C	brain:	n/a	n/a
33	YY1	chr5:126625662-126625891	GM12878	blood:	n/a	n/a
34	CTCF	chr5:126625586-126625954	HepG2	liver:	n/a	n/a
35	CTCF	chr5:126625670-126625958	GM19238	blood:	n/a	n/a
36	CTCF	chr5:126625720-126625870	GM12878	blood:	n/a	n/a
37	SMC3	chr5:126625589-126626016	GM12878	blood:	n/a	n/a
38	CTCF	chr5:126625697-126625898	GM20000	blood:	n/a	n/a
39	CTCF	chr5:126625660-126625810	HL-60	blood:	n/a	n/a
40	CTCF	chr5:126625700-126625850	GM12870	blood:	n/a	n/a
41	CTCF	chr5:126625720-126625870	HCPEpiC	choroid plexus:	n/a	n/a
42	RAD21	chr5:126625584-126626724	H1-hESC	embryonic stem cell:	n/a	chr5:126625793-126625812 chr5:126625773-126625786 chr5:126626401-126626415
43	CTCF	chr5:126625720-126625870	GM12865	blood:	n/a	n/a
44	POLR2A	chr5:126625690-126626000	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr5:126625700-126625850	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:126625720-126625870	AG10803	skin:	n/a	n/a
47	RAD21	chr5:126625533-126626089	MCF-7	breast:	n/a	chr5:126625793-126625812 chr5:126625773-126625786
48	SMC3	chr5:126625600-126625952	HepG2	liver:	n/a	n/a
49	CTCF	chr5:126625678-126625939	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr5:126625700-126625850	SAEC	small airway:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126625334..126626334-chr5:126828202..126829307,4	K562	blood:
2	chr5:126625340..126626138-chr5:126754424..126755165,2	MCF-7	breast:
3	chr5:126625437..126626272-chr5:126649473..126650186,4	MCF-7	breast:
4	chr5:126625467..126626301-chr5:126777581..126778549,4	MCF-7	breast:
5	chr5:126625421..126626248-chr5:126777545..126778246,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEGF10	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10519930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109330	0.85[EUR][1000 genomes]
rs17165043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17165060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165082	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165102	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165105	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165119	1.00[CEU][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs17604615	0.85[CHD][hapmap]
rs17604889	0.85[CHD][hapmap]
rs17673685	0.85[CHD][hapmap]
rs17763722	0.85[CHD][hapmap]
rs17839697	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2032833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2898042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3812054	1.00[CHD][hapmap]
rs56084567	0.89[ASN][1000 genomes]
rs56169866	0.89[ASN][1000 genomes]
rs57623356	0.89[ASN][1000 genomes]
rs6595768	0.85[CHD][hapmap]
rs73785574	0.89[ASN][1000 genomes]
rs73785576	0.89[ASN][1000 genomes]
rs7702573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126625400-126625800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:126625400-126626800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:126625600-126625800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:126625600-126625800	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:126625600-126625800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:126625600-126625800	Active TSS	Fetal Muscle Trunk	muscle
7	chr5:126625600-126625800	Weak transcription	Pancreas	Pancrea
8	chr5:126625600-126625800	Enhancers	HSMMtube	muscle
9	chr5:126625600-126626200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:126625600-126626800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr5:126625600-126626800	Active TSS	Fetal Brain Female	brain
12	chr5:126625600-126627000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr5:126625600-126627200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:126625600-126627200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:126625600-126627400	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr5:126625600-126627400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:126625600-126627800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr5:126625600-126628800	Active TSS	Brain Anterior Caudate	brain
19	chr5:126625600-126629400	Active TSS	Brain Inferior Temporal Lobe	brain

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