Variant report

Variant	rs3759768
Chromosome Location	chr14:68163793-68163794
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:7)
LncRNA
region (count:1)
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	ARID3A	chr14:68163785-68163895	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68163792-68163842	PANC-1	pancreas:	n/a
2	chr14:68163792-68163842	NB4	blood:	n/a
3	chr14:68163792-68163842	T-47D	breast:	n/a
4	chr14:68163792-68163842	PFSK-1	brain:	n/a
5	chr14:68163792-68163842	IMR90	lung:	fetal
6	chr14:68163792-68163842	AG09309	skin:	n/a
7	chr14:68163792-68163842	SAEC	small airway:	n/a
8	chr14:68163792-68163842	HCT-116	colon:	n/a
9	chr14:68163792-68163842	NH-A	brain:	n/a
10	chr14:68163792-68163842	HCM	heart:	n/a
11	chr14:68163792-68163842	LNCaP	prostate:	n/a
12	chr14:68163792-68163842	Hepatocyte	liver:	n/a
13	chr14:68163792-68163842	AG10803	skin:	n/a
14	chr14:68163792-68163842	U87	brain:	n/a
15	chr14:68163792-68163842	HPAEpiC	pulmonary alveolar:	n/a
16	chr14:68163792-68163842	GM19239	blood:	n/a
17	chr14:68163792-68163842	SK-N-SH	brain:	n/a
18	chr14:68163792-68163842	AG04450	lung:	fetal
19	chr14:68163792-68163842	PrEC	prostate:	n/a
20	chr14:68163792-68163842	AG04449	skin:	fetal
21	chr14:68163792-68163842	MCF-7	breast:	n/a
22	chr14:68163792-68163842	GM12878	blood:	n/a
23	chr14:68163792-68163842	ECC-1	luminal epithelium:	n/a
24	chr14:68163792-68163842	HRPEpiC	eye:	n/a
25	chr14:68163792-68163842	ovcar-3	ovarian:	n/a
26	chr14:68163792-68163842	BJ	skin:	n/a
27	chr14:68163792-68163842	HEEpiC	esophagus:	n/a
28	chr14:68163792-68163842	Hela-S3	cervix:	n/a
29	chr14:68163792-68163842	HMEC	breast:	n/a
30	chr14:68163792-68163842	NT2-D1	testis:	n/a
31	chr14:68163792-68163842	MCF10A-Er-Src	breast:	n/a
32	chr14:68163792-68163842	AG09319	gingival:	n/a
33	chr14:68163792-68163842	A549	lung:	n/a
34	chr14:68163792-68163842	HL-60	blood:	n/a
35	chr14:68163792-68163842	HIPEpiC	eye:	n/a
36	chr14:68163792-68163842	SK-N-MC	brain:	n/a
37	chr14:68163792-68163842	SKMC	muscle:	n/a
38	chr14:68163792-68163842	CMK	blood:	n/a
39	chr14:68163792-68163842	K562	blood:	n/a
40	chr14:68163792-68163842	Caco-2	colon:	n/a
41	chr14:68163792-68163842	H1-hESC	embryonic stem cell:	embryo
42	chr14:68163792-68163842	HAEpiC	amniotic membrane:	n/a
43	chr14:68163792-68163842	HRCEpiC	kidney:	n/a
44	chr14:68163792-68163842	HEK293	kidney:	embryo
45	chr14:68163792-68163842	HNPCEpiC	eye:	n/a
46	chr14:68163792-68163842	BE2_C	brain:	n/a
47	chr14:68163792-68163842	GM06990	blood:	n/a
48	chr14:68163792-68163842	HepG2	liver:	n/a
49	chr14:68163792-68163842	GM12891	blood:	n/a
50	chr14:68163792-68163842	HUVEC	blood vessel:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68085007..68087641-chr14:68161734..68163830,3	MCF-7	breast:
2	chr14:68153591..68158250-chr14:68160092..68166006,8	K562	blood:
3	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
4	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
5	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
6	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
7	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RDH11-1	chr14:68163551-68163820	l_1003_chr14:68163550-68164952_brain

No data

Variant related genes	Relation type
RDH12	TF binding region
RDH11	TF binding region
RDH12	CpG island
RDH11	CpG island
ENSG00000100568	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000081181	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10136206	0.86[JPT][hapmap]
rs10483802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12100925	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12431676	0.94[YRI][hapmap];0.87[AMR][1000 genomes]
rs12432546	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12435927	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12436474	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs12437263	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587111	0.82[ASN][1000 genomes]
rs12587408	0.87[ASN][1000 genomes]
rs12590038	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590620	0.81[ASN][1000 genomes]
rs15493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17249444	0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs17249563	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17836863	0.91[ASN][1000 genomes]
rs1804799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2009590	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs56246064	0.82[ASN][1000 genomes]
rs56981676	0.81[ASN][1000 genomes]
rs58668895	0.82[ASN][1000 genomes]
rs59421018	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60851053	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs718213	1.00[CEU][hapmap]
rs8010798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8013234	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs910315	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68163800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68162600-68163800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:68162600-68164400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:68162600-68166200	Enhancers	Liver	Liver
5	chr14:68162600-68167000	Weak transcription	Osteobl	bone
6	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
7	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68162800-68164000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:68162800-68171000	Weak transcription	A549	lung
10	chr14:68162800-68171200	Weak transcription	K562	blood
11	chr14:68163200-68164000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:68163200-68166200	Enhancers	HepG2	liver
13	chr14:68163200-68167000	Weak transcription	Hela-S3	cervix
14	chr14:68163400-68163800	Weak transcription	Monocytes-CD14+_RO01746	blood

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