Variant report

Variant	rs9324065
Chromosome Location	chr14:104394835-104394836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr14:104394557-104395284	Hela-S3	cervix:	n/a	n/a
2	HCFC1	chr14:104394314-104395181	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr14:104394552-104395015	H1-hESC	embryonic stem cell:	n/a	chr14:104394715-104394729 chr14:104394792-104394804 chr14:104394617-104394627 chr14:104394755-104394764
4	MXI1	chr14:104394650-104394907	Hela-S3	cervix:	n/a	n/a
5	NFYA	chr14:104394551-104394899	Hela-S3	cervix:	n/a	n/a
6	NFYB	chr14:104394601-104395027	Hela-S3	cervix:	n/a	n/a
7	TBP	chr14:104394805-104394871	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:104394696-104395045	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:104394646-104395016	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:104394707-104395045	Hela-S3	cervix:	n/a	n/a
11	NFYB	chr14:104394575-104394849	K562	blood:	n/a	n/a
12	POLR2A	chr14:104394475-104395117	Hela-S3	cervix:	n/a	n/a
13	MAX	chr14:104394475-104394955	Hela-S3	cervix:	n/a	chr14:104394523-104394532
14	E2F6	chr14:104394607-104394991	H1-hESC	embryonic stem cell:	n/a	chr14:104394715-104394729 chr14:104394792-104394804 chr14:104394617-104394627 chr14:104394755-104394764
15	RFX5	chr14:104394471-104394852	Hela-S3	cervix:	n/a	n/a
16	E2F6	chr14:104394490-104395125	Hela-S3	cervix:	n/a	chr14:104394715-104394729 chr14:104394792-104394804 chr14:104394617-104394627 chr14:104394755-104394764 chr14:104395069-104395078

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104394831-104394881	CMK	blood:	n/a
2	chr14:104394831-104394881	PFSK-1	brain:	n/a
3	chr14:104394831-104394881	MCF10A-Er-Src	breast:	n/a
4	chr14:104394831-104394881	LNCaP	prostate:	n/a
5	chr14:104394831-104394881	AG09319	gingival:	n/a
6	chr14:104394831-104394881	HCF	heart:	n/a
7	chr14:104394831-104394881	T-47D	breast:	n/a
8	chr14:104394831-104394881	PANC-1	pancreas:	n/a
9	chr14:104394831-104394881	AG04449	skin:	fetal
10	chr14:104394831-104394881	HRCEpiC	kidney:	n/a
11	chr14:104394831-104394881	SKMC	muscle:	n/a
12	chr14:104394831-104394881	GM12891	blood:	n/a
13	chr14:104394831-104394881	PrEC	prostate:	n/a
14	chr14:104394831-104394881	BJ	skin:	n/a
15	chr14:104394831-104394881	IMR90	lung:	fetal
16	chr14:104394831-104394881	ovcar-3	ovarian:	n/a
17	chr14:104394831-104394881	HRE	kidney:	n/a
18	chr14:104394831-104394881	Jurkat	blood:	n/a
19	chr14:104394831-104394881	AG09309	skin:	n/a
20	chr14:104394831-104394881	HIPEpiC	eye:	n/a
21	chr14:104394831-104394881	HCT-116	colon:	n/a
22	chr14:104394831-104394881	SK-N-SH_RA	brain:	n/a
23	chr14:104394831-104394881	BE2_C	brain:	n/a
24	chr14:104394831-104394881	K562	blood:	n/a
25	chr14:104394831-104394881	HUVEC	blood vessel:	n/a
26	chr14:104394831-104394881	ECC-1	luminal epithelium:	n/a
27	chr14:104394831-104394881	HAEpiC	amniotic membrane:	n/a
28	chr14:104394831-104394881	SK-N-MC	brain:	n/a
29	chr14:104394831-104394881	ProgFib	skin:	n/a
30	chr14:104394831-104394881	NHDF-neo	bronchial:	n/a
31	chr14:104394831-104394881	SK-N-SH	brain:	n/a
32	chr14:104394831-104394881	NH-A	brain:	n/a
33	chr14:104394831-104394881	H1-hESC	embryonic stem cell:	embryo
34	chr14:104394831-104394881	AoSMC	blood vessel:	n/a
35	chr14:104394831-104394881	SAEC	small airway:	n/a
36	chr14:104394831-104394881	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:104394831-104394881	GM12892	blood:	n/a
38	chr14:104394831-104394881	GM19239	blood:	n/a
39	chr14:104394831-104394881	RPTEC	kidney:	n/a
40	chr14:104394831-104394881	NT2-D1	testis:	n/a
41	chr14:104394831-104394881	AG10803	skin:	n/a
42	chr14:104394831-104394881	GM12878	blood:	n/a
43	chr14:104394831-104394881	HRPEpiC	eye:	n/a
44	chr14:104394831-104394881	HNPCEpiC	eye:	n/a
45	chr14:104394831-104394881	Hela-S3	cervix:	n/a
46	chr14:104394831-104394881	HepG2	liver:	n/a
47	chr14:104394831-104394881	HL-60	blood:	n/a
48	chr14:104394831-104394881	HMEC	breast:	n/a
49	chr14:104394831-104394881	NHBE	bronchial:	n/a
50	chr14:104394831-104394881	Hepatocyte	liver:	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
C14orf2	TF binding region
TDRD9	TF binding region
TDRD9	CpG island
C14orf2	CpG island
ENSG00000227729	Chromatin interaction
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11849381	1.00[AMR][1000 genomes]
rs55826943	1.00[AMR][1000 genomes]
rs56687774	1.00[AMR][1000 genomes]
rs59108783	1.00[AMR][1000 genomes]
rs60710970	1.00[AMR][1000 genomes]
rs61350337	1.00[AMR][1000 genomes]
rs7146464	1.00[AMR][1000 genomes]
rs73356331	1.00[AMR][1000 genomes]
rs74086986	1.00[AMR][1000 genomes]
rs74086988	1.00[AMR][1000 genomes]
rs74087001	1.00[AMR][1000 genomes]
rs74087002	1.00[AMR][1000 genomes]
rs74088777	1.00[AMR][1000 genomes]
rs74089115	1.00[AMR][1000 genomes]
rs74089126	1.00[AMR][1000 genomes]
rs74089148	1.00[AMR][1000 genomes]
rs74089150	1.00[AMR][1000 genomes]
rs74089153	1.00[AMR][1000 genomes]
rs74089170	1.00[AMR][1000 genomes]
rs8012910	1.00[AMR][1000 genomes]
rs8014686	1.00[AMR][1000 genomes]
rs8014751	1.00[AMR][1000 genomes]
rs9671937	1.00[AMR][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

No data

Chromatin state (count:11 , 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	chr14:104394400-104395800	Active TSS	Hela-S3	cervix
5	chr14:104394600-104395000	Enhancers	Spleen	Spleen
6	chr14:104394600-104398200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104394800-104395000	Enhancers	Pancreas	Pancrea
8	chr14:104394800-104395200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:104394800-104395200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:104394800-104395200	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr14:104394800-104395200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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