Variant report

Variant	rs12882546
Chromosome Location	chr14:68162701-68162702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr14:68162280-68162745	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:68161379-68162724	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:68161326-68162771	U87	brain:	n/a	n/a
4	SP1	chr14:68162175-68162707	A549	lung:	n/a	n/a
5	POLR2A	chr14:68162090-68162713	MCF-7	breast:	n/a	n/a
6	SIN3AK20	chr14:68161369-68162746	MCF-7	breast:	n/a	n/a
7	POU2F2	chr14:68162112-68162766	GM12878	blood:	n/a	n/a
8	POU2F2	chr14:68162212-68162756	GM12891	blood:	n/a	n/a
9	SIN3AK20	chr14:68162064-68162703	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:68161388-68162726	Raji	blood:	n/a	n/a
11	CEBPB	chr14:68162279-68162740	Hela-S3	cervix:	n/a	n/a
12	SP1	chr14:68162121-68162761	A549	lung:	n/a	n/a
13	SP4	chr14:68162229-68162720	H1-hESC	embryonic stem cell:	n/a	chr14:68162488-68162504
14	POLR2A	chr14:68161317-68162704	PBDE	blood:	n/a	n/a
15	MAX	chr14:68162040-68162754	A549	lung:	n/a	n/a
16	CEBPB	chr14:68162313-68162711	HepG2	liver:	n/a	n/a
17	MXI1	chr14:68161418-68162748	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:68161324-68162752	GM12892	blood:	n/a	n/a
19	MYBL2	chr14:68162041-68162707	HepG2	liver:	n/a	n/a
20	CEBPB	chr14:68162206-68162714	K562	blood:	n/a	n/a
21	POLR2A	chr14:68161157-68162859	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:68161479-68162735	SK-N-SH	brain:	n/a	n/a
23	SIX5	chr14:68161462-68162830	A549	lung:	n/a	chr14:68162539-68162548 chr14:68162537-68162546 chr14:68162536-68162550
24	POLR2A	chr14:68162125-68162746	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr14:68162307-68162712	IMR90	lung:	n/a	n/a
26	POLR2A	chr14:68161382-68162723	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr14:68162230-68162735	HepG2	liver:	n/a	n/a
28	E2F6	chr14:68161796-68162708	A549	lung:	n/a	chr14:68162293-68162305
29	E2F4	chr14:68162269-68162745	MCF10A-Er-Src	breast:	n/a	chr14:68162293-68162305
30	EBF1	chr14:68162421-68162794	GM12878	blood:	n/a	n/a
31	YY1	chr14:68161491-68162720	H1-hESC	embryonic stem cell:	n/a	chr14:68162232-68162240 chr14:68162229-68162239 chr14:68162230-68162238 chr14:68162229-68162251
32	CEBPB	chr14:68162318-68162707	A549	lung:	n/a	n/a
33	SIN3AK20	chr14:68161353-68162778	HCT-116	colon:	n/a	n/a
34	CREB1	chr14:68162296-68162724	HepG2	liver:	n/a	n/a
35	CEBPB	chr14:68162309-68162709	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr14:68162273-68162736	H1-hESC	embryonic stem cell:	n/a	n/a
37	SIN3AK20	chr14:68162042-68162741	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr14:68161361-68162773	ECC-1	luminal epithelium:	n/a	n/a
39	CREB1	chr14:68162251-68162777	H1-hESC	embryonic stem cell:	n/a	n/a
40	POU2F2	chr14:68161983-68162739	GM12891	blood:	n/a	n/a
41	ETS1	chr14:68162228-68162763	K562	blood:	n/a	chr14:68162537-68162550
42	POLR2A	chr14:68161295-68162800	K562	blood:	n/a	n/a
43	POLR2A	chr14:68162064-68162704	A549	lung:	n/a	n/a
44	HDAC2	chr14:68162289-68162767	MCF-7	breast:	n/a	n/a
45	CEBPB	chr14:68162246-68162735	A549	lung:	n/a	n/a
46	POLR2A	chr14:68161315-68162736	SK-N-MC	brain:	n/a	n/a
47	YY1	chr14:68161473-68162711	ECC-1	luminal epithelium:	n/a	chr14:68162232-68162240 chr14:68162229-68162239 chr14:68162230-68162238 chr14:68162229-68162251
48	ZNF143	chr14:68162233-68162737	Hela-S3	cervix:	n/a	chr14:68162537-68162546 chr14:68162530-68162548 chr14:68162539-68162548
49	TCF12	chr14:68161452-68162780	A549	lung:	n/a	chr14:68162188-68162198
50	MAX	chr14:68161413-68162716	Hela-S3	cervix:	n/a	n/a

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	chr14:68162088..68162732-chr15:55699888..55700416,2	Hela-S3	cervix:
4	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:
5	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
6	chr14:68139847..68143415-chr14:68157981..68164641,9	K562	blood:
7	chr14:68065024..68068542-chr14:68160973..68163130,4	K562	blood:
8	chr14:68139320..68145896-chr14:68154797..68164104,19	MCF-7	breast:
9	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
10	chr14:67999159..68000744-chr14:68160589..68162912,2	MCF-7	breast:
11	chr14:68139933..68142840-chr14:68159503..68163270,4	K562	blood:
12	chr14:68152032..68159100-chr14:68160764..68163993,10	K562	blood:
13	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
14	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
15	chr14:68138842..68143559-chr14:68155519..68164066,22	MCF-7	breast:
16	chr14:68082006..68084010-chr14:68160991..68163508,2	MCF-7	breast:

Variant related genes	Relation type
RDH11	TF binding region
ENSG00000201529	Chromatin interaction
ENSG00000139988	Chromatin interaction
ENSG00000198133	Chromatin interaction
ENSG00000258466	Chromatin interaction
ENSG00000259648	Chromatin interaction
ENSG00000081181	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000100564	Chromatin interaction
ENSG00000260916	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129402	1.00[AMR][1000 genomes]
rs10148493	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148929	1.00[AMR][1000 genomes]
rs10150303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11625247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12435419	1.00[AMR][1000 genomes]
rs12894770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1535088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2092691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2320028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902505	0.96[AFR][1000 genomes]
rs4902513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902515	0.81[AFR][1000 genomes]
rs6573798	1.00[AMR][1000 genomes]
rs7143260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7159735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006137	1.00[AMR][1000 genomes]
rs8011138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017290	0.81[AFR][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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