Variant report

Variant	rs6691184
Chromosome Location	chr1:179560154-179560155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179560121-179560171	ECC-1	luminal epithelium:	n/a
2	chr1:179560121-179560171	GM06990	blood:	n/a
3	chr1:179560121-179560171	Hela-S3	cervix:	n/a
4	chr1:179560121-179560171	GM12891	blood:	n/a
5	chr1:179560121-179560171	AG10803	skin:	n/a
6	chr1:179560121-179560171	HNPCEpiC	eye:	n/a
7	chr1:179560121-179560171	CMK	blood:	n/a
8	chr1:179560121-179560171	GM12878	blood:	n/a
9	chr1:179560121-179560171	HRCEpiC	kidney:	n/a
10	chr1:179560121-179560171	SAEC	small airway:	n/a
11	chr1:179560121-179560171	IMR90	lung:	fetal
12	chr1:179560121-179560171	GM12892	blood:	n/a
13	chr1:179560121-179560171	AG09319	gingival:	n/a
14	chr1:179560121-179560171	RPTEC	kidney:	n/a
15	chr1:179560121-179560171	K562	blood:	n/a
16	chr1:179560121-179560171	HL-60	blood:	n/a
17	chr1:179560121-179560171	HMEC	breast:	n/a
18	chr1:179560121-179560171	A549	lung:	n/a
19	chr1:179560121-179560171	HCF	heart:	n/a
20	chr1:179560121-179560171	AoSMC	blood vessel:	n/a
21	chr1:179560121-179560171	BE2_C	brain:	n/a
22	chr1:179560121-179560171	NH-A	brain:	n/a
23	chr1:179560121-179560171	Caco-2	colon:	n/a
24	chr1:179560121-179560171	NHBE	bronchial:	n/a
25	chr1:179560121-179560171	HAEpiC	amniotic membrane:	n/a
26	chr1:179560121-179560171	HEEpiC	esophagus:	n/a
27	chr1:179560121-179560171	NB4	blood:	n/a
28	chr1:179560121-179560171	SK-N-SH	brain:	n/a
29	chr1:179560121-179560171	HCT-116	colon:	n/a
30	chr1:179560121-179560171	HRE	kidney:	n/a
31	chr1:179560121-179560171	HRPEpiC	eye:	n/a
32	chr1:179560121-179560171	SKMC	muscle:	n/a
33	chr1:179560121-179560171	PrEC	prostate:	n/a
34	chr1:179560121-179560171	HepG2	liver:	n/a
35	chr1:179560121-179560171	NHDF-neo	bronchial:	n/a
36	chr1:179560121-179560171	T-47D	breast:	n/a
37	chr1:179560121-179560171	HUVEC	blood vessel:	n/a
38	chr1:179560121-179560171	BJ	skin:	n/a
39	chr1:179560121-179560171	LNCaP	prostate:	n/a
40	chr1:179560121-179560171	PFSK-1	brain:	n/a
41	chr1:179560121-179560171	AG04450	lung:	fetal
42	chr1:179560121-179560171	H1-hESC	embryonic stem cell:	embryo
43	chr1:179560121-179560171	HCPEpiC	choroid plexus:	n/a
44	chr1:179560121-179560171	MCF10A-Er-Src	breast:	n/a
45	chr1:179560121-179560171	AG09309	skin:	n/a
46	chr1:179560121-179560171	NT2-D1	testis:	n/a
47	chr1:179560121-179560171	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:179560121-179560171	AG04449	skin:	fetal
49	chr1:179560121-179560171	SK-N-SH_RA	brain:	n/a
50	chr1:179560121-179560171	ovcar-3	ovarian:	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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDRD5-1	chr1:179559507-179560440	ENSG00000261060.1
2	lnc-NPHS2-3	chr1:179560011-179560175	NONHSAT008198

No data

Variant related genes	Relation type
TDRD5	CpG island
ENSG00000227141	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs10753199	1.00[CEU][hapmap];0.97[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs10753200	0.94[CHB][hapmap]
rs10913793	0.81[JPT][hapmap]
rs10913797	0.81[JPT][hapmap]
rs11809606	0.80[JPT][hapmap]
rs12133017	0.81[JPT][hapmap]
rs12136977	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs12137397	0.92[CEU][hapmap]
rs12138189	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs12568706	0.86[CEU][hapmap]
rs12724074	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs1576225	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs4475708	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652424	0.94[CHB][hapmap]
rs6425567	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs6668035	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs6672804	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs6674274	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs7535800	0.81[JPT][hapmap]
rs7544340	0.80[JPT][hapmap]
rs7546457	0.81[JPT][hapmap]
rs962429	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs9787089	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs9787118	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424735	chr1:179559954-179562502	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs6691184	TDRD5	cis	parietal	SCAN
rs6691184	TDRD5	cis	Nerve Tibial	GTEx
rs6691184	SOAT1	cis	cerebellum	SCAN
rs6691184	RASAL2	cis	parietal	SCAN
rs6691184	TDRD5	cis	Thyroid	GTEx
rs6691184	TDRD5	cis	cerebellum	SCAN
rs6691184	RP11-545A16.4	cis	Artery Tibial	GTEx
rs6691184	TDRD5	cis	Adipose Subcutaneous	GTEx
rs6691184	TDRD5	cis	Esophagus Mucosa	GTEx
rs6691184	TDRD5	cis	Artery Aorta	GTEx
rs6691184	TDRD5	cis	Skin Sun Exposed Lower leg	GTEx
rs6691184	TDRD5	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179556000-179560600	Weak transcription	Right Atrium	heart
2	chr1:179558200-179560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:179560000-179560400	Enhancers	Brain Germinal Matrix	brain

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