Variant report

Variant	rs10129730
Chromosome Location	chr14:104395186-104395187
allele	C/T
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	CHD2	chr14:104394557-104395284	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	chr14:104395165-104395215	RPTEC	kidney:	n/a
2	chr14:104395165-104395215	HRE	kidney:	n/a
3	chr14:104395165-104395215	HEEpiC	esophagus:	n/a
4	chr14:104395165-104395215	PrEC	prostate:	n/a
5	chr14:104395165-104395215	HMEC	breast:	n/a
6	chr14:104395165-104395215	NH-A	brain:	n/a
7	chr14:104395165-104395215	AG04450	lung:	fetal
8	chr14:104395165-104395215	Hela-S3	cervix:	n/a
9	chr14:104395165-104395215	SK-N-SH_RA	brain:	n/a
10	chr14:104395165-104395215	AG04449	skin:	fetal
11	chr14:104395165-104395215	BJ	skin:	n/a
12	chr14:104395165-104395215	HEK293	kidney:	embryo
13	chr14:104395165-104395215	U87	brain:	n/a
14	chr14:104395165-104395215	ovcar-3	ovarian:	n/a
15	chr14:104395165-104395215	LNCaP	prostate:	n/a
16	chr14:104395165-104395215	Caco-2	colon:	n/a
17	chr14:104395165-104395215	NHBE	bronchial:	n/a
18	chr14:104395165-104395215	T-47D	breast:	n/a
19	chr14:104395165-104395215	AoSMC	blood vessel:	n/a
20	chr14:104395165-104395215	GM12878	blood:	n/a
21	chr14:104395165-104395215	GM06990	blood:	n/a
22	chr14:104395165-104395215	SKMC	muscle:	n/a
23	chr14:104395165-104395215	Hepatocyte	liver:	n/a
24	chr14:104395165-104395215	HCT-116	colon:	n/a
25	chr14:104395165-104395215	IMR90	lung:	fetal
26	chr14:104395165-104395215	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:104395165-104395215	GM12892	blood:	n/a
28	chr14:104395165-104395215	AG09309	skin:	n/a
29	chr14:104395165-104395215	HCM	heart:	n/a
30	chr14:104395165-104395215	SK-N-SH	brain:	n/a
31	chr14:104395165-104395215	Jurkat	blood:	n/a
32	chr14:104395165-104395215	HRPEpiC	eye:	n/a
33	chr14:104395165-104395215	HCPEpiC	choroid plexus:	n/a
34	chr14:104395165-104395215	NHDF-neo	bronchial:	n/a
35	chr14:104395165-104395215	K562	blood:	n/a
36	chr14:104395165-104395215	GM19239	blood:	n/a
37	chr14:104395165-104395215	CMK	blood:	n/a
38	chr14:104395165-104395215	HRCEpiC	kidney:	n/a
39	chr14:104395165-104395215	HIPEpiC	eye:	n/a
40	chr14:104395165-104395215	H1-hESC	embryonic stem cell:	embryo
41	chr14:104395165-104395215	PANC-1	pancreas:	n/a
42	chr14:104395165-104395215	ECC-1	luminal epithelium:	n/a
43	chr14:104395165-104395215	AG10803	skin:	n/a
44	chr14:104395165-104395215	HNPCEpiC	eye:	n/a
45	chr14:104395165-104395215	HUVEC	blood vessel:	n/a
46	chr14:104395165-104395215	BE2_C	brain:	n/a
47	chr14:104395165-104395215	HCF	heart:	n/a
48	chr14:104395165-104395215	SK-N-MC	brain:	n/a
49	chr14:104395165-104395215	SAEC	small airway:	n/a
50	chr14:104395165-104395215	NB4	blood:	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
C14orf2	CpG island
ENSG00000156411	Chromatin interaction
ENSG00000227729	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10130042	0.81[AMR][1000 genomes]
rs10131031	0.84[AMR][1000 genomes]
rs10131231	0.84[AMR][1000 genomes]
rs10131792	0.90[AFR][1000 genomes]
rs10137676	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10137889	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10139210	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10140436	0.81[AMR][1000 genomes]
rs10141374	0.81[AMR][1000 genomes]
rs10142365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10142956	0.81[AMR][1000 genomes]
rs10149898	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10151165	0.81[AMR][1000 genomes]
rs12436665	0.86[AMR][1000 genomes]
rs12437404	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17101922	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2295662	0.82[AMR][1000 genomes]
rs28407129	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28416628	0.81[AMR][1000 genomes]
rs28439019	0.84[AMR][1000 genomes]
rs28493894	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28514602	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28555097	0.81[AMR][1000 genomes]
rs28563863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28593161	0.86[AMR][1000 genomes]
rs28715405	0.86[AMR][1000 genomes]
rs28841005	0.81[AMR][1000 genomes]
rs34606901	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4900603	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4900606	0.86[AMR][1000 genomes]
rs4906384	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906386	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4906388	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4906393	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4906394	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4906400	0.81[AMR][1000 genomes]
rs4906403	0.81[AMR][1000 genomes]
rs4906407	0.81[AMR][1000 genomes]
rs4906414	0.81[AMR][1000 genomes]
rs55746000	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55866217	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55920546	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56050561	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56279366	0.86[AMR][1000 genomes]
rs56817754	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56872578	0.88[AMR][1000 genomes]
rs58071582	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58128911	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58220415	0.88[AMR][1000 genomes]
rs58701300	0.90[ASN][1000 genomes]
rs59838226	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs74086761	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086762	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74086783	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs74086977	0.86[AMR][1000 genomes]
rs8004485	0.90[AMR][1000 genomes]
rs8009847	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8020110	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8022769	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9324070	0.81[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:10 , 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	chr14:104394600-104398200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104394800-104395200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:104394800-104395200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:104394800-104395200	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr14:104394800-104395200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
10	chr14:104395000-104401200	Weak transcription	Spleen	Spleen

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