Variant report

Variant	rs10149651
Chromosome Location	chr14:104394440-104394441
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:4)
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	HCFC1	chr14:104394314-104395181	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104394430-104394480	Caco-2	colon:	n/a
2	chr14:104394430-104394480	MCF10A-Er-Src	breast:	n/a
3	chr14:104394430-104394480	SK-N-SH_RA	brain:	n/a
4	chr14:104394430-104394480	ovcar-3	ovarian:	n/a
5	chr14:104394430-104394480	PFSK-1	brain:	n/a
6	chr14:104394430-104394480	IMR90	lung:	fetal
7	chr14:104394430-104394480	GM12878	blood:	n/a
8	chr14:104394430-104394480	AG09319	gingival:	n/a
9	chr14:104394430-104394480	PrEC	prostate:	n/a
10	chr14:104394430-104394480	AG09309	skin:	n/a
11	chr14:104394430-104394480	PANC-1	pancreas:	n/a
12	chr14:104394430-104394480	HEK293	kidney:	embryo
13	chr14:104394430-104394480	GM06990	blood:	n/a
14	chr14:104394430-104394480	AG04449	skin:	fetal
15	chr14:104394430-104394480	GM12892	blood:	n/a
16	chr14:104394430-104394480	AG10803	skin:	n/a
17	chr14:104394430-104394480	U87	brain:	n/a
18	chr14:104394430-104394480	HUVEC	blood vessel:	n/a
19	chr14:104394430-104394480	Hepatocyte	liver:	n/a
20	chr14:104394430-104394480	H1-hESC	embryonic stem cell:	embryo
21	chr14:104394430-104394480	SK-N-SH	brain:	n/a
22	chr14:104394430-104394480	Jurkat	blood:	n/a
23	chr14:104394430-104394480	MCF-7	breast:	n/a
24	chr14:104394430-104394480	BJ	skin:	n/a
25	chr14:104394430-104394480	HRPEpiC	eye:	n/a
26	chr14:104394430-104394480	HepG2	liver:	n/a
27	chr14:104394430-104394480	HL-60	blood:	n/a
28	chr14:104394430-104394480	GM19239	blood:	n/a
29	chr14:104394430-104394480	A549	lung:	n/a
30	chr14:104394430-104394480	GM12891	blood:	n/a
31	chr14:104394430-104394480	NB4	blood:	n/a
32	chr14:104394430-104394480	HRCEpiC	kidney:	n/a
33	chr14:104394430-104394480	NH-A	brain:	n/a
34	chr14:104394430-104394480	HAEpiC	amniotic membrane:	n/a
35	chr14:104394430-104394480	HIPEpiC	eye:	n/a
36	chr14:104394430-104394480	SK-N-MC	brain:	n/a
37	chr14:104394430-104394480	HEEpiC	esophagus:	n/a
38	chr14:104394430-104394480	HCT-116	colon:	n/a
39	chr14:104394430-104394480	HMEC	breast:	n/a
40	chr14:104394430-104394480	BE2_C	brain:	n/a
41	chr14:104394430-104394480	CMK	blood:	n/a
42	chr14:104394430-104394480	ProgFib	skin:	n/a
43	chr14:104394430-104394480	NHBE	bronchial:	n/a
44	chr14:104394430-104394480	ECC-1	luminal epithelium:	n/a
45	chr14:104394430-104394480	HCPEpiC	choroid plexus:	n/a
46	chr14:104394430-104394480	RPTEC	kidney:	n/a
47	chr14:104394430-104394480	LNCaP	prostate:	n/a
48	chr14:104394430-104394480	Hela-S3	cervix:	n/a
49	chr14:104394430-104394480	NT2-D1	testis:	n/a
50	chr14:104394430-104394480	T-47D	breast:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104379142..104381534-chr14:104393675..104395664,2	K562	blood:
2	chr14:104385710..104388983-chr14:104393675..104397966,4	MCF-7	breast:
3	chr14:104393603..104396242-chr14:104407114..104410000,4	K562	blood:
4	chr14:104393603..104397064-chr14:104407702..104410726,3	K562	blood:

No data

Variant related genes	Relation type
TDRD9	TF binding region
TDRD9	CpG island
ENSG00000227729	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10136440	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11160774	0.84[AMR][1000 genomes]
rs11622475	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625697	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11626404	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1187446	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1187448	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12885873	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs12889168	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12895359	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12895592	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17101911	0.95[CEU][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes]
rs1885072	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2005081	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2236246	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2236247	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2269186	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273610	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2368984	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34288430	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34964872	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56060232	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56231040	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59776579	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6576012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7143682	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143936	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs743212	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8021692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs941946	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3324566	chr14:104393824-104396372	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10149651	TDRD9	cis	lung	GTEx
rs10149651	ZFYVE21	cis	cerebellum	SCAN
rs10149651	TDRD9	cis	cerebellum	SCAN
rs10149651	C14orf2	cis	cerebellum	SCAN
rs10149651	TDRD9	cis	Adipose Subcutaneous	GTEx
rs10149651	TDRD9	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104390200-104395400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:104392200-104395200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr14:104392400-104395600	Weak transcription	HepG2	liver
4	chr14:104393800-104394600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:104394400-104395800	Active TSS	Hela-S3	cervix

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