Variant report

Variant	rs73560411
Chromosome Location	chr19:43067567-43067568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:80)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:80 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:43067524-43067955	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr19:43067559-43067867	SK-N-SH_RA	brain:	n/a	n/a
3	RAD21	chr19:43067475-43067943	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:43067480-43067630	HFF	foreskin:	n/a	n/a
5	CTCF	chr19:43067259-43068011	SK-N-SH	brain:	n/a	n/a
6	ZNF143	chr19:43067497-43067872	GM12878	blood:	n/a	n/a
7	CTCF	chr19:43067559-43067825	Pancreas_OC	pancreas:	n/a	n/a
8	RAD21	chr19:43067423-43067927	HCT-116	colon:	n/a	n/a
9	CTCF	chr19:43067488-43067856	K562	blood:	n/a	n/a
10	RAD21	chr19:43067512-43067872	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr19:43067490-43067889	K562	blood:	n/a	n/a
12	CTCF	chr19:43067484-43067764	A549	lung:	n/a	n/a
13	RAD21	chr19:43067525-43067876	GM12878	blood:	n/a	n/a
14	RAD21	chr19:43067557-43067804	K562	blood:	n/a	n/a
15	ZNF143	chr19:43067529-43067871	H1-hESC	embryonic stem cell:	n/a	n/a
16	RUNX3	chr19:43067566-43067796	GM12878	blood:	n/a	n/a
17	CTCF	chr19:43067506-43067890	IMR90	lung:	n/a	n/a
18	CTCF	chr19:43067567-43067798	HepG2	liver:	n/a	n/a
19	RAD21	chr19:43067441-43068050	A549	lung:	n/a	n/a
20	RAD21	chr19:43067474-43067900	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr19:43067567-43067809	GM13977	blood:	n/a	n/a
22	RAD21	chr19:43067299-43068005	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr19:43067413-43067930	HCT-116	colon:	n/a	n/a
24	CTCF	chr19:43067540-43067690	A549	lung:	n/a	n/a
25	CTCF	chr19:43067541-43067832	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr19:43067560-43067710	HL-60	blood:	n/a	n/a
27	TBL1XR1	chr19:43067514-43067723	GM12878	blood:	n/a	n/a
28	RUNX3	chr19:43067491-43067881	GM12878	blood:	n/a	n/a
29	RAD21	chr19:43067412-43067937	A549	lung:	n/a	n/a
30	RAD21	chr19:43067413-43067935	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr19:43067546-43067838	GM12878	blood:	n/a	n/a
32	CTCF	chr19:43067453-43067889	A549	lung:	n/a	n/a
33	RFX5	chr19:43067480-43067731	GM12878	blood:	n/a	n/a
34	CTCF	chr19:43067458-43067962	A549	lung:	n/a	n/a
35	RCOR1	chr19:43067515-43067841	HepG2	liver:	n/a	n/a
36	CTCF	chr19:43067480-43067911	MCF-7	breast:	n/a	n/a
37	RAD21	chr19:43067416-43067866	HepG2	liver:	n/a	n/a
38	CTCF	chr19:43067555-43067812	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr19:43067567-43067815	K562	blood:	n/a	n/a
40	CTCF	chr19:43067560-43067710	RPTEC	kidney:	n/a	n/a
41	RCOR1	chr19:43067559-43067720	GM12878	blood:	n/a	n/a
42	FOXA2	chr19:43067512-43067796	HepG2	liver:	n/a	n/a
43	SMC3	chr19:43067494-43067861	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr19:43067504-43067794	A549	lung:	n/a	n/a
45	RAD21	chr19:43067513-43067894	Hela-S3	cervix:	n/a	n/a
46	SMC3	chr19:43067505-43067849	HepG2	liver:	n/a	n/a
47	SMC3	chr19:43067167-43067974	SK-N-SH	brain:	n/a	n/a
48	CTCF	chr19:43067557-43067832	Gliobla	brain:	n/a	n/a
49	RAD21	chr19:43067529-43067845	GM12878	blood:	n/a	n/a
50	CEBPB	chr19:43067439-43067765	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:43067242..43067993-chr19:43100482..43101078,2	MCF-7	breast:

No data

Variant related genes	Relation type
CEACAM1	TF binding region
CEACAMP2	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10402697	1.00[EUR][1000 genomes]
rs10403856	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406800	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes]
rs10408986	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	1.00[AMR][1000 genomes]
rs10411565	1.00[EUR][1000 genomes]
rs10414502	1.00[EUR][1000 genomes]
rs10414695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415759	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417606	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418312	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418988	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421409	1.00[AMR][1000 genomes]
rs10421857	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421902	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes]
rs10469287	1.00[EUR][1000 genomes]
rs11878183	1.00[EUR][1000 genomes]
rs11878207	1.00[AMR][1000 genomes]
rs11879211	1.00[EUR][1000 genomes]
rs11880356	1.00[AMR][1000 genomes]
rs13343322	1.00[AMR][1000 genomes]
rs13343388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes]
rs13343761	1.00[AMR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes]
rs13343966	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13346831	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346879	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229614	1.00[AMR][1000 genomes]
rs28402882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes]
rs28483598	1.00[AMR][1000 genomes]
rs28545051	1.00[EUR][1000 genomes]
rs28657829	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes]
rs28686771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33919763	1.00[AMR][1000 genomes]
rs35707383	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36089262	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41407146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41446245	1.00[EUR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes]
rs60950516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246232	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248473	1.00[AMR][1000 genomes]
rs7248543	1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes]
rs7258727	1.00[AMR][1000 genomes]
rs73558432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8099885	1.00[AMR][1000 genomes]
rs8109258	1.00[AMR][1000 genomes]
rs8111527	1.00[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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv3439256	chr19:43065661-43098816	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3360773	chr19:43065661-43137022	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43050600-43067800	Weak transcription	Right Atrium	heart
2	chr19:43060200-43067600	Weak transcription	Adipose Nuclei	Adipose
3	chr19:43064600-43067600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:43064800-43070600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:43066400-43067800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:43066600-43067800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:43067200-43069200	Enhancers	Brain Hippocampus Middle	brain
8	chr19:43067400-43067600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr19:43067400-43071800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr19:43067400-43072000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:43067400-43072000	Enhancers	Primary neutrophils fromperipheralblood	blood

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