Variant report

Variant	rs10413139
Chromosome Location	chr19:51979292-51979293
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51978222-51980018	K562	blood:	n/a	n/a
2	POLR2A	chr19:51979274-51980888	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51979244-51979294	NH-A	brain:	n/a
2	chr19:51979244-51979294	AG10803	skin:	n/a
3	chr19:51979244-51979294	PrEC	prostate:	n/a
4	chr19:51979244-51979294	MCF-7	breast:	n/a
5	chr19:51979244-51979294	HRCEpiC	kidney:	n/a
6	chr19:51979244-51979294	HAEpiC	amniotic membrane:	n/a
7	chr19:51979244-51979294	SK-N-SH_RA	brain:	n/a
8	chr19:51979244-51979294	HUVEC	blood vessel:	n/a
9	chr19:51979244-51979294	RPTEC	kidney:	n/a
10	chr19:51979244-51979294	AoSMC	blood vessel:	n/a
11	chr19:51979244-51979294	GM12878	blood:	n/a
12	chr19:51979244-51979294	HMEC	breast:	n/a
13	chr19:51979244-51979294	SAEC	small airway:	n/a
14	chr19:51979244-51979294	SK-N-MC	brain:	n/a
15	chr19:51979244-51979294	Hepatocyte	liver:	n/a
16	chr19:51979244-51979294	HNPCEpiC	eye:	n/a
17	chr19:51979244-51979294	HL-60	blood:	n/a
18	chr19:51979244-51979294	IMR90	lung:	fetal
19	chr19:51979244-51979294	HIPEpiC	eye:	n/a
20	chr19:51979244-51979294	BE2_C	brain:	n/a
21	chr19:51979244-51979294	HEEpiC	esophagus:	n/a
22	chr19:51979244-51979294	HCM	heart:	n/a
23	chr19:51979244-51979294	AG09319	gingival:	n/a
24	chr19:51979244-51979294	SKMC	muscle:	n/a
25	chr19:51979244-51979294	K562	blood:	n/a
26	chr19:51979244-51979294	T-47D	breast:	n/a
27	chr19:51979244-51979294	HRPEpiC	eye:	n/a
28	chr19:51979244-51979294	PANC-1	pancreas:	n/a
29	chr19:51979244-51979294	LNCaP	prostate:	n/a
30	chr19:51979244-51979294	NT2-D1	testis:	n/a
31	chr19:51979244-51979294	GM12891	blood:	n/a
32	chr19:51979244-51979294	HCPEpiC	choroid plexus:	n/a
33	chr19:51979244-51979294	Jurkat	blood:	n/a
34	chr19:51979244-51979294	ProgFib	skin:	n/a
35	chr19:51979244-51979294	H1-hESC	embryonic stem cell:	embryo
36	chr19:51979244-51979294	A549	lung:	n/a
37	chr19:51979244-51979294	HRE	kidney:	n/a
38	chr19:51979244-51979294	Hela-S3	cervix:	n/a
39	chr19:51979244-51979294	CMK	blood:	n/a
40	chr19:51979244-51979294	HCF	heart:	n/a
41	chr19:51979244-51979294	PFSK-1	brain:	n/a
42	chr19:51979244-51979294	SK-N-SH	brain:	n/a
43	chr19:51979244-51979294	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:51979244-51979294	GM06990	blood:	n/a
45	chr19:51979244-51979294	MCF10A-Er-Src	breast:	n/a
46	chr19:51979244-51979294	AG04449	skin:	fetal
47	chr19:51979244-51979294	Caco-2	colon:	n/a
48	chr19:51979244-51979294	NB4	blood:	n/a
49	chr19:51979244-51979294	ECC-1	luminal epithelium:	n/a
50	chr19:51979244-51979294	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51970891..51972816-chr19:51977892..51980633,2	K562	blood:
2	chr19:51971316..51973681-chr19:51979133..51981319,3	K562	blood:

No data

Variant related genes	Relation type
CEACAM18	TF binding region
CEACAM18	CpG island
ENSG00000268957	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10411438	0.83[ASN][1000 genomes]
rs10412866	0.88[ASN][1000 genomes]
rs10413005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413469	0.83[ASN][1000 genomes]
rs10413560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10413645	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10415519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10420912	0.84[AFR][1000 genomes]
rs10422460	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425109	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425569	1.00[AFR][1000 genomes]
rs12327789	0.83[ASN][1000 genomes]
rs12327792	0.83[ASN][1000 genomes]
rs12327796	0.83[ASN][1000 genomes]
rs12327808	0.83[ASN][1000 genomes]
rs28444450	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4267441	0.83[ASN][1000 genomes]
rs57906214	0.88[ASN][1000 genomes]
rs61701460	0.88[ASN][1000 genomes]
rs62115078	0.83[ASN][1000 genomes]
rs62115079	0.83[ASN][1000 genomes]
rs62115080	0.83[ASN][1000 genomes]
rs62116163	0.83[ASN][1000 genomes]
rs726763	0.83[ASN][1000 genomes]
rs9304713	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304714	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9304715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9304716	1.00[AFR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51975800-51981600	Enhancers	Fetal Intestine Small	intestine
2	chr19:51975800-51981800	Enhancers	Fetal Intestine Large	intestine
3	chr19:51978000-51980400	Weak transcription	K562	blood
4	chr19:51978400-51979600	Enhancers	Stomach Mucosa	stomach
5	chr19:51978400-51981400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:51979200-51982000	Weak transcription	HepG2	liver

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