Variant report

Variant	rs12881351
Chromosome Location	chr14:68162792-68162793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:68161157-68162859	HepG2	liver:	n/a	n/a
2	SIX5	chr14:68161462-68162830	A549	lung:	n/a	chr14:68162539-68162548 chr14:68162537-68162546 chr14:68162536-68162550
3	EBF1	chr14:68162421-68162794	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:68161295-68162800	K562	blood:	n/a	n/a
5	POLR2A	chr14:68160507-68162949	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr14:68161295-68163145	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr14:68162229-68162804	GM12878	blood:	n/a	n/a
8	HCFC1	chr14:68161292-68163357	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:68161327-68162793	HUVEC	blood vessel:	n/a	n/a
10	GATA2	chr14:68161561-68163121	SH-SY5Y	brain:	n/a	n/a
11	HEY1	chr14:68161233-68162843	HepG2	liver:	n/a	n/a
12	REST	chr14:68161299-68162795	H1-neurons	neurons:	n/a	chr14:68161999-68162006 chr14:68162132-68162145 chr14:68162178-68162198 chr14:68162182-68162195
13	PML	chr14:68161414-68162799	GM12878	blood:	n/a	chr14:68162321-68162329 chr14:68162477-68162485
14	SIN3AK20	chr14:68161611-68162809	MCF-7	breast:	n/a	n/a
15	MXI1	chr14:68161300-68163176	IMR90	lung:	n/a	n/a
16	POLR2A	chr14:68162138-68162818	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr14:68161352-68162816	Hela-S3	cervix:	n/a	n/a

No data

(count:15 , 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	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
4	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
5	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
6	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
7	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
8	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
9	chr14:67999159..68000744-chr14:68160589..68162912,2	MCF-7	breast:
10	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
11	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
12	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
13	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
14	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
15	chr14:68082006..68084010-chr14:68160991..68163508,2	MCF-7	breast:

No data

Variant related genes	Relation type
RDH11	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007283	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147055	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147616	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879877	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12880440	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881994	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12882315	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882423	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882561	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12882897	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884644	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884764	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884807	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886140	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12887092	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888119	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12889011	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12889276	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889527	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12890397	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12892204	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12892919	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893115	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12893900	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893907	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894707	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895014	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895217	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896052	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898042	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17249649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273160	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34970739	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759762	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7147925	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8007557	0.94[EUR][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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68161000-68162800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:68161000-68162800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr14:68161000-68162800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr14:68161000-68162800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:68161000-68162800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:68161000-68162800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:68161000-68162800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:68161000-68162800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:68161000-68162800	Active TSS	Brain Angular Gyrus	brain
10	chr14:68161000-68162800	Active TSS	Fetal Brain Female	brain
11	chr14:68161000-68162800	Active TSS	A549	lung
12	chr14:68161200-68162800	Active TSS	K562	blood
13	chr14:68161400-68162800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr14:68161400-68162800	Active TSS	Fetal Muscle Trunk	muscle
15	chr14:68161400-68162800	Active TSS	Right Ventricle	heart
16	chr14:68161600-68162800	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr14:68161600-68162800	Active TSS	Fetal Kidney	kidney
18	chr14:68161600-68162800	Active TSS	Right Atrium	heart
19	chr14:68161800-68162800	Active TSS	Brain Cingulate Gyrus	brain
20	chr14:68161800-68162800	Active TSS	Brain Hippocampus Middle	brain
21	chr14:68161800-68162800	Active TSS	Brain Substantia Nigra	brain
22	chr14:68161800-68162800	Active TSS	Left Ventricle	heart
23	chr14:68161800-68162800	Active TSS	Rectal Smooth Muscle	rectum
24	chr14:68161800-68162800	Active TSS	Stomach Smooth Muscle	stomach
25	chr14:68162000-68162800	Active TSS	Primary B cells from cord blood	blood
26	chr14:68162000-68162800	Active TSS	Brain Anterior Caudate	brain
27	chr14:68162200-68162800	Active TSS	Adipose Nuclei	Adipose
28	chr14:68162200-68162800	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr14:68162200-68162800	Active TSS	HepG2	liver
30	chr14:68162400-68162800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:68162400-68162800	Enhancers	Fetal Heart	heart
32	chr14:68162400-68162800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr14:68162400-68163000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:68162600-68162800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:68162600-68162800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr14:68162600-68162800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr14:68162600-68162800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:68162600-68162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:68162600-68162800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:68162600-68162800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:68162600-68162800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:68162600-68162800	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr14:68162600-68162800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr14:68162600-68162800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:68162600-68162800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr14:68162600-68162800	Enhancers	Placenta	Placenta
47	chr14:68162600-68162800	Flanking Active TSS	Fetal Stomach	stomach
48	chr14:68162600-68162800	Enhancers	Fetal Thymus	thymus
49	chr14:68162600-68162800	Weak transcription	Pancreas	Pancrea
50	chr14:68162600-68162800	Flanking Active TSS	Dnd41	blood

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