Variant report

Variant	rs744446
Chromosome Location	chr1:179558051-179558052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:179558027-179558101	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:179557940-179558090	HEK293	kidney:	n/a	n/a
3	CTCF	chr1:179557960-179558110	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179558048-179558098	HRCEpiC	kidney:	n/a
2	chr1:179558048-179558098	GM12891	blood:	n/a
3	chr1:179558048-179558098	PrEC	prostate:	n/a
4	chr1:179558048-179558098	SK-N-SH_RA	brain:	n/a
5	chr1:179558048-179558098	AG10803	skin:	n/a
6	chr1:179558048-179558098	GM06990	blood:	n/a
7	chr1:179558048-179558098	CMK	blood:	n/a
8	chr1:179558048-179558098	H1-hESC	embryonic stem cell:	embryo
9	chr1:179558048-179558098	SK-N-SH	brain:	n/a
10	chr1:179558048-179558098	BJ	skin:	n/a
11	chr1:179558048-179558098	AG04449	skin:	fetal
12	chr1:179558048-179558098	AG09309	skin:	n/a
13	chr1:179558048-179558098	U87	brain:	n/a
14	chr1:179558048-179558098	A549	lung:	n/a
15	chr1:179558048-179558098	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:179558048-179558098	HCM	heart:	n/a
17	chr1:179558048-179558098	Hepatocyte	liver:	n/a
18	chr1:179558048-179558098	GM19239	blood:	n/a
19	chr1:179558048-179558098	ECC-1	luminal epithelium:	n/a
20	chr1:179558048-179558098	HRE	kidney:	n/a
21	chr1:179558048-179558098	HAEpiC	amniotic membrane:	n/a
22	chr1:179558048-179558098	BE2_C	brain:	n/a
23	chr1:179558048-179558098	HCT-116	colon:	n/a
24	chr1:179558048-179558098	T-47D	breast:	n/a
25	chr1:179558048-179558098	HRPEpiC	eye:	n/a
26	chr1:179558048-179558098	NH-A	brain:	n/a
27	chr1:179558048-179558098	HNPCEpiC	eye:	n/a
28	chr1:179558048-179558098	AG09319	gingival:	n/a
29	chr1:179558048-179558098	AG04450	lung:	fetal
30	chr1:179558048-179558098	Hela-S3	cervix:	n/a
31	chr1:179558048-179558098	AoSMC	blood vessel:	n/a
32	chr1:179558048-179558098	PANC-1	pancreas:	n/a
33	chr1:179558048-179558098	MCF10A-Er-Src	breast:	n/a
34	chr1:179558048-179558098	HCPEpiC	choroid plexus:	n/a
35	chr1:179558048-179558098	NT2-D1	testis:	n/a
36	chr1:179558048-179558098	IMR90	lung:	fetal
37	chr1:179558048-179558098	SKMC	muscle:	n/a
38	chr1:179558048-179558098	HepG2	liver:	n/a
39	chr1:179558048-179558098	LNCaP	prostate:	n/a
40	chr1:179558048-179558098	MCF-7	breast:	n/a
41	chr1:179558048-179558098	ProgFib	skin:	n/a
42	chr1:179558048-179558098	HUVEC	blood vessel:	n/a
43	chr1:179558048-179558098	GM12878	blood:	n/a
44	chr1:179558048-179558098	SK-N-MC	brain:	n/a
45	chr1:179558048-179558098	HEK293	kidney:	embryo
46	chr1:179558048-179558098	K562	blood:	n/a
47	chr1:179558048-179558098	HIPEpiC	eye:	n/a
48	chr1:179558048-179558098	ovcar-3	ovarian:	n/a
49	chr1:179558048-179558098	PFSK-1	brain:	n/a
50	chr1:179558048-179558098	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179553040..179558877-chr1:179559940..179564416,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261060	TF binding region
TDRD5	TF binding region
ENSG00000261060	CpG island
TDRD5	CpG island
ENSG00000162782	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10157829	0.87[ASN][1000 genomes]
rs1079291	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11577538	0.84[EUR][1000 genomes]
rs11586725	0.84[EUR][1000 genomes]
rs12021675	0.84[ASN][1000 genomes]
rs12035247	0.82[ASN][1000 genomes]
rs12042409	0.82[ASN][1000 genomes]
rs12045588	0.80[ASN][1000 genomes]
rs1999068	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2274622	0.85[EUR][1000 genomes]
rs3765547	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4474210	0.84[ASN][1000 genomes]
rs4520380	0.82[ASN][1000 genomes]
rs55635521	0.94[ASN][1000 genomes]
rs58593782	0.82[ASN][1000 genomes]
rs61310274	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6425588	0.82[ASN][1000 genomes]
rs6689426	0.94[ASN][1000 genomes]
rs6691856	0.82[ASN][1000 genomes]
rs6692069	0.82[ASN][1000 genomes]
rs74132225	0.82[ASN][1000 genomes]
rs7519700	0.84[EUR][1000 genomes]
rs7520355	0.82[ASN][1000 genomes]
rs7541890	0.84[EUR][1000 genomes]
rs7541899	0.84[EUR][1000 genomes]
rs7547484	0.82[ASN][1000 genomes]
rs7547988	0.82[ASN][1000 genomes]
rs913514	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs744446	TDRD5	cis	Adipose Subcutaneous	GTEx
rs744446	RP11-545A16.3	cis	Artery Aorta	GTEx
rs744446	TDRD5	cis	Artery Aorta	GTEx
rs744446	TDRD5	cis	Skin Sun Exposed Lower leg	GTEx
rs744446	TDRD5	cis	Thyroid	GTEx
rs744446	TDRD5	cis	Nerve Tibial	GTEx
rs744446	TDRD5	cis	lung	GTEx
rs744446	TDRD5	cis	Esophagus Mucosa	GTEx
rs744446	TDRD5	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179556000-179560600	Weak transcription	Right Atrium	heart
2	chr1:179556200-179558200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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