Variant report

Variant	rs2722708
Chromosome Location	chr19:44810587-44810588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44810521-44810662	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44810574-44810624	HRCEpiC	kidney:	n/a
2	chr19:44810574-44810624	NT2-D1	testis:	n/a
3	chr19:44810574-44810624	U87	brain:	n/a
4	chr19:44810574-44810624	NH-A	brain:	n/a
5	chr19:44810574-44810624	SK-N-SH	brain:	n/a
6	chr19:44810574-44810624	PANC-1	pancreas:	n/a
7	chr19:44810574-44810624	HCPEpiC	choroid plexus:	n/a
8	chr19:44810574-44810624	Jurkat	blood:	n/a
9	chr19:44810574-44810624	HCF	heart:	n/a
10	chr19:44810574-44810624	H1-hESC	embryonic stem cell:	embryo
11	chr19:44810574-44810624	SKMC	muscle:	n/a
12	chr19:44810574-44810624	HRE	kidney:	n/a
13	chr19:44810574-44810624	BJ	skin:	n/a
14	chr19:44810574-44810624	GM19239	blood:	n/a
15	chr19:44810574-44810624	HUVEC	blood vessel:	n/a
16	chr19:44810574-44810624	HEEpiC	esophagus:	n/a
17	chr19:44810574-44810624	NB4	blood:	n/a
18	chr19:44810574-44810624	HEK293	kidney:	embryo
19	chr19:44810574-44810624	AoSMC	blood vessel:	n/a
20	chr19:44810574-44810624	AG04449	skin:	fetal
21	chr19:44810574-44810624	ProgFib	skin:	n/a
22	chr19:44810574-44810624	SAEC	small airway:	n/a
23	chr19:44810574-44810624	HPAEpiC	pulmonary alveolar:	n/a
24	chr19:44810574-44810624	PrEC	prostate:	n/a
25	chr19:44810574-44810624	ECC-1	luminal epithelium:	n/a
26	chr19:44810574-44810624	HL-60	blood:	n/a
27	chr19:44810574-44810624	NHBE	bronchial:	n/a
28	chr19:44810574-44810624	LNCaP	prostate:	n/a
29	chr19:44810574-44810624	SK-N-MC	brain:	n/a
30	chr19:44810574-44810624	AG09319	gingival:	n/a
31	chr19:44810574-44810624	HNPCEpiC	eye:	n/a
32	chr19:44810574-44810624	NHDF-neo	bronchial:	n/a
33	chr19:44810574-44810624	AG09309	skin:	n/a
34	chr19:44810574-44810624	PFSK-1	brain:	n/a
35	chr19:44810574-44810624	ovcar-3	ovarian:	n/a
36	chr19:44810574-44810624	MCF10A-Er-Src	breast:	n/a
37	chr19:44810574-44810624	A549	lung:	n/a
38	chr19:44810574-44810624	T-47D	breast:	n/a
39	chr19:44810574-44810624	HepG2	liver:	n/a
40	chr19:44810574-44810624	BE2_C	brain:	n/a
41	chr19:44810574-44810624	Hela-S3	cervix:	n/a
42	chr19:44810574-44810624	Hepatocyte	liver:	n/a
43	chr19:44810574-44810624	CMK	blood:	n/a
44	chr19:44810574-44810624	RPTEC	kidney:	n/a
45	chr19:44810574-44810624	AG04450	lung:	fetal
46	chr19:44810574-44810624	Caco-2	colon:	n/a
47	chr19:44810574-44810624	MCF-7	breast:	n/a
48	chr19:44810574-44810624	IMR90	lung:	fetal
49	chr19:44810574-44810624	GM12878	blood:	n/a
50	chr19:44810574-44810624	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44809211..44812535-chr19:44950548..44952678,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF235	TF binding region
ZNF235	CpG island
ENSG00000267188	Chromatin interaction
ENSG00000167383	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1233430	1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233431	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1233432	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233433	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233434	0.93[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs1233436	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1233438	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233442	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233443	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1233445	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233446	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233449	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233450	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1233451	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233452	1.00[GIH][hapmap];0.90[TSI][hapmap]
rs1233453	1.00[GIH][hapmap];0.91[TSI][hapmap]
rs1233457	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1233458	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233460	1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233461	1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233462	1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1233469	1.00[GIH][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes]
rs1233472	0.81[AMR][1000 genomes]
rs1233474	1.00[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1234839	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1235163	1.00[GIH][hapmap];0.91[TSI][hapmap]
rs1237178	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1237179	1.00[GIH][hapmap];0.86[TSI][hapmap]
rs1238786	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1347349	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1369100	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1836273	0.82[ASN][1000 genomes]
rs2164112	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2164113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2168990	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2196185	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2249402	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2262860	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2446491	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466421	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2571100	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2571105	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2571106	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609883	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609886	1.00[GIH][hapmap];0.80[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2609887	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609889	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2609890	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609898	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609905	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609906	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609907	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs2609909	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2722707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722711	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722715	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722716	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722717	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722718	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2722719	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2722721	1.00[CHD][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2722735	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722736	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2722738	0.89[ASN][1000 genomes]
rs2722739	0.84[ASN][1000 genomes]
rs59555311	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509153	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874187	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898175	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898176	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898177	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898179	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs984116	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2722708	SYT3	cis	cerebellum	SCAN
rs2722708	SNORD33	cis	cerebellum	SCAN
rs2722708	FLT3LG	cis	parietal	SCAN
rs2722708	ZNF229	trans	cerebellum	SCAN
rs2722708	GPR77	cis	cerebellum	SCAN
rs2722708	SIGLEC16	cis	cerebellum	SCAN
rs2722708	ZFP112	trans	cerebellum	SCAN
rs2722708	ZNF473	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44807600-44810600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:44808800-44810600	Active TSS	Primary T cells from cord blood	blood
3	chr19:44809600-44811000	ZNF genes & repeats	Liver	Liver
4	chr19:44809800-44811800	Weak transcription	HSMM	muscle
5	chr19:44809800-44811800	Weak transcription	HSMMtube	muscle
6	chr19:44810000-44810800	ZNF genes & repeats	Adipose Nuclei	Adipose

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