Variant report

Variant	rs12892419
Chromosome Location	chr14:24768534-24768535
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24768464-24769481	MCF-7	breast:	n/a	n/a
2	GABPA	chr14:24768450-24769709	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:24768145-24769572	Hela-S3	cervix:	n/a	n/a
4	ELF1	chr14:24768530-24769506	K562	blood:	n/a	n/a
5	POLR2A	chr14:24768218-24769270	MCF10A-Er-Src	breast:	n/a	n/a
6	ELF1	chr14:24768493-24769460	K562	blood:	n/a	n/a
7	POLR2A	chr14:24768180-24768575	K562	blood:	n/a	n/a
8	POLR2A	chr14:24768524-24769366	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr14:24767847-24769556	MCF-7	breast:	n/a	n/a
10	POLR2A	chr14:24768440-24769377	PFSK-1	brain:	n/a	n/a
11	ELF1	chr14:24768446-24769518	HepG2	liver:	n/a	n/a
12	TEAD4	chr14:24767904-24769279	HepG2	liver:	n/a	n/a
13	ZEB1	chr14:24768510-24769235	GM12878	blood:	n/a	n/a
14	SIN3AK20	chr14:24768077-24769507	MCF-7	breast:	n/a	n/a
15	CREB1	chr14:24767821-24770048	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:24768255-24769514	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:24768525-24769428	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr14:24768060-24769730	HepG2	liver:	n/a	n/a
19	HEY1	chr14:24768502-24769369	HepG2	liver:	n/a	chr14:24769007-24769022 chr14:24769005-24769020
20	POLR2A	chr14:24768264-24768571	MCF10A-Er-Src	breast:	n/a	n/a
21	MAX	chr14:24768511-24769477	ECC-1	luminal epithelium:	n/a	n/a
22	PML	chr14:24768508-24769363	MCF-7	breast:	n/a	n/a
23	CREB1	chr14:24768515-24769499	A549	lung:	n/a	n/a
24	ELF1	chr14:24768387-24769692	MCF-7	breast:	n/a	n/a
25	HCFC1	chr14:24768077-24769988	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:24768414-24769365	GM12878	blood:	n/a	n/a
27	SRF	chr14:24768111-24769526	HCT-116	colon:	n/a	n/a
28	POLR2A	chr14:24768270-24770150	GM12878	blood:	n/a	n/a
29	TAF1	chr14:24768412-24769340	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:24768118-24769269	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:24768531-24769541	ECC-1	luminal epithelium:	n/a	n/a
32	SIN3AK20	chr14:24768412-24769430	HCT-116	colon:	n/a	n/a
33	EP300	chr14:24768519-24768640	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:24768490-24769340	HEK293	kidney:	n/a	n/a
35	FOSL2	chr14:24768012-24769505	HepG2	liver:	n/a	n/a
36	MAX	chr14:24768499-24769504	A549	lung:	n/a	n/a
37	POLR2A	chr14:24768071-24769943	HL-60	blood:	n/a	n/a
38	ELF1	chr14:24768467-24769624	GM12878	blood:	n/a	n/a
39	ELF1	chr14:24768430-24769646	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:24768476-24769295	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:24768242-24769486	Hela-S3	cervix:	n/a	n/a
42	MYBL2	chr14:24767965-24770192	HepG2	liver:	n/a	n/a
43	TAF1	chr14:24768512-24769295	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr14:24767655-24770253	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:24768430-24769435	MCF-7	breast:	n/a	n/a
46	GABPA	chr14:24768425-24769649	MCF-7	breast:	n/a	n/a
47	YY1	chr14:24768062-24769493	HepG2	liver:	n/a	chr14:24768794-24768805 chr14:24769015-24769024 chr14:24768823-24768834 chr14:24768621-24768632
48	HNF4G	chr14:24768118-24769278	HepG2	liver:	n/a	n/a
49	CTCF	chr14:24768480-24768630	AG04449	skin:	n/a	n/a
50	HA-E2F1	chr14:24767924-24769571	MCF-7	breast:	n/a	chr14:24769015-24769024

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
2	chr14:24768494..24769211-chr5:176853624..176854604,2	Hela-S3	cervix:
3	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
4	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
5	chr14:24614927..24617454-chr14:24767400..24769438,2	K562	blood:
6	chr14:24613977..24617454-chr14:24767400..24769438,3	K562	blood:
7	chr14:24759345..24761161-chr14:24766043..24768971,2	K562	blood:
8	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:
9	chr14:24766841..24768982-chr14:24770722..24773085,2	MCF-7	breast:
10	chr14:24767930..24771021-chr14:24792565..24795803,5	MCF-7	breast:
11	chr14:24767332..24771774-chr14:24910139..24913002,7	MCF-7	breast:
12	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
13	chr14:24768153..24769673-chr17:58466663..58469633,2	MCF-7	breast:
14	chr14:24709953..24714493-chr14:24766859..24769769,8	K562	blood:
15	chr14:24765284..24770509-chr14:24899183..24903551,4	MCF-7	breast:
16	chr14:24701050..24705855-chr14:24766597..24769956,4	K562	blood:
17	chr14:24740761..24742611-chr14:24767431..24768980,2	K562	blood:
18	chr14:24768412..24770961-chr14:24898867..24900397,2	K562	blood:
19	chr14:24767708..24770495-chr14:24910481..24913051,4	MCF-7	breast:
20	chr14:24759089..24762221-chr14:24766736..24770177,4	MCF-7	breast:
21	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
22	chr14:24709953..24713670-chr14:24767111..24769746,6	K562	blood:
23	chr14:24768283..24771076-chr14:24807728..24810560,2	MCF-7	breast:
24	chr14:24629249..24631887-chr14:24767463..24769864,3	MCF-7	breast:
25	chr14:24766804..24771569-chr14:24898237..24903800,5	MCF-7	breast:
26	chr14:24675521..24677265-chr14:24767958..24770679,2	K562	blood:
27	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
28	chr14:24673611..24677021-chr14:24767958..24770274,3	K562	blood:

No data

Variant related genes	Relation type
NOP9	TF binding region
DHRS1	TF binding region
ENSG00000196943	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000198055	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000139908	Chromatin interaction
ENSG00000170832	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1046587	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1051883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881984	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12884896	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12885593	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12887789	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12891757	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12892146	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12892579	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12895335	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12895752	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12896386	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12896469	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2295306	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2295307	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3825586	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4982889	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4982890	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4982891	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4982892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4982894	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146665	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7400863	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7401804	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs747060	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8003991	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs941507	0.95[CEU][hapmap];0.89[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12892419	DHRS1	cis	Frontal Cortex	GTEx
rs12892419	DHRS1	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24767600-24768600	Flanking Active TSS	Liver	Liver
2	chr14:24767800-24768600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:24767800-24768600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:24767800-24768800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr14:24767800-24768800	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr14:24767800-24770000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr14:24767800-24770400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:24768000-24768600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:24768000-24768600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:24768000-24768600	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr14:24768000-24768600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr14:24768000-24768600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
13	chr14:24768000-24768600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr14:24768000-24768600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:24768000-24768600	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr14:24768000-24768600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr14:24768000-24768600	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr14:24768000-24768600	Flanking Active TSS	A549	lung
19	chr14:24768000-24768600	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:24768000-24768600	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr14:24768000-24768600	Flanking Active TSS	NHLF	lung
22	chr14:24768000-24768800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr14:24768000-24768800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr14:24768000-24768800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr14:24768000-24768800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr14:24768000-24768800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr14:24768000-24768800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr14:24768000-24768800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:24768000-24768800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr14:24768000-24768800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:24768000-24768800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:24768000-24768800	Flanking Active TSS	Colonic Mucosa	Colon
33	chr14:24768000-24768800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr14:24768000-24768800	Flanking Active TSS	Dnd41	blood
35	chr14:24768000-24768800	Flanking Active TSS	Osteobl	bone
36	chr14:24768000-24769000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr14:24768000-24769000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:24768000-24769000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr14:24768000-24769400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:24768000-24769600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr14:24768000-24769800	Active TSS	K562	blood
42	chr14:24768000-24770000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:24768000-24770000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:24768000-24770200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:24768000-24770200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr14:24768000-24770200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:24768000-24770200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:24768000-24770400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:24768000-24770400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr14:24768200-24768600	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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