Variant report

Variant	rs111309189
Chromosome Location	chr14:56046798-56046799
allele	A/G
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	EGR1	chr14:56046558-56046910	ECC-1	luminal epithelium:	n/a	chr14:56046806-56046819
2	POLR2A	chr14:56046547-56046952	SK-N-MC	brain:	n/a	n/a
3	HDAC2	chr14:56046256-56047070	MCF-7	breast:	n/a	n/a
4	TEAD4	chr14:56046538-56047126	ECC-1	luminal epithelium:	n/a	n/a
5	MXI1	chr14:56045617-56048670	SK-N-SH	brain:	n/a	n/a
6	JUND	chr14:56045641-56047156	SK-N-SH	brain:	n/a	chr14:56045750-56045758 chr14:56046912-56046921
7	POLR2A	chr14:56046372-56048148	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr14:56045846-56046809	SH-SY5Y	brain:	n/a	n/a
9	GATA1	chr14:56046387-56046928	PBDE	blood:	n/a	n/a
10	SP1	chr14:56046300-56047114	HCT-116	colon:	n/a	chr14:56046911-56046920 chr14:56046910-56046919 chr14:56046909-56046921 chr14:56046910-56046919 chr14:56046915-56046924 chr14:56046914-56046926 chr14:56046909-56046921 chr14:56046915-56046924 chr14:56046914-56046926 chr14:56046916-56046925 chr14:56046910-56046924
11	ELF1	chr14:56046736-56047087	HepG2	liver:	n/a	chr14:56046829-56046841 chr14:56046868-56046880 chr14:56046875-56046884
12	CCNT2	chr14:56046541-56047888	K562	blood:	n/a	n/a
13	POLR2A	chr14:56046464-56047942	NB4	blood:	n/a	n/a
14	RCOR1	chr14:56046291-56046880	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr14:56046450-56047098	H1-hESC	embryonic stem cell:	n/a	n/a
16	IRF1	chr14:56046579-56046983	K562	blood:	n/a	chr14:56046907-56046921 chr14:56046912-56046926
17	SMC3	chr14:56046423-56046962	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:56046376-56048101	ECC-1	luminal epithelium:	n/a	n/a
19	TBP	chr14:56046490-56046910	HepG2	liver:	n/a	n/a
20	CHD2	chr14:56046391-56046811	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr14:56046702-56047038	K562	blood:	n/a	n/a
22	POLR2A	chr14:56046605-56047262	HEK293	kidney:	n/a	n/a
23	POLR2A	chr14:56046502-56047136	GM12878	blood:	n/a	n/a
24	GTF2F1	chr14:56046771-56046816	K562	blood:	n/a	n/a
25	POLR2A	chr14:56046367-56048084	GM18951	blood:	n/a	n/a
26	MAX	chr14:56046202-56046990	K562	blood:	n/a	n/a
27	POLR2A	chr14:56046294-56048539	Hela-S3	cervix:	n/a	n/a
28	HDAC2	chr14:56046249-56046935	MCF-7	breast:	n/a	n/a
29	MAX	chr14:56046456-56047011	GM12878	blood:	n/a	n/a
30	E2F6	chr14:56046699-56046983	K562	blood:	n/a	chr14:56046870-56046880
31	ZEB1	chr14:56046559-56047123	GM12878	blood:	n/a	n/a
32	STAT1	chr14:56046401-56047050	GM12878	blood:	n/a	chr14:56046911-56046923
33	POLR2A	chr14:56046718-56047231	MCF-7	breast:	n/a	n/a
34	TAF1	chr14:56046548-56047313	HepG2	liver:	n/a	n/a
35	POLR2A	chr14:56046365-56046866	U87	brain:	n/a	n/a
36	EGR1	chr14:56046342-56047117	HCT-116	colon:	n/a	chr14:56046806-56046819
37	BCL3	chr14:56046380-56046864	A549	lung:	n/a	chr14:56046777-56046790
38	ETS1	chr14:56046684-56046985	K562	blood:	n/a	n/a
39	TEAD4	chr14:56046448-56047006	ECC-1	luminal epithelium:	n/a	n/a
40	TBL1XR1	chr14:56046720-56046899	K562	blood:	n/a	n/a
41	MAX	chr14:56046384-56048146	HepG2	liver:	n/a	chr14:56047371-56047381
42	E2F6	chr14:56046722-56046874	K562	blood:	n/a	n/a
43	MAZ	chr14:56046479-56047045	HepG2	liver:	n/a	n/a
44	EP300	chr14:56046478-56046876	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:56046471-56046844	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr14:56046201-56047117	A549	lung:	n/a	n/a
47	HEY1	chr14:56046536-56047236	HepG2	liver:	n/a	chr14:56046662-56046677 chr14:56046871-56046886 chr14:56046910-56046925
48	JUND	chr14:56046377-56046900	K562	blood:	n/a	n/a
49	TCF3	chr14:56046478-56047018	GM12878	blood:	n/a	n/a
50	MAZ	chr14:56046395-56047911	GM12878	blood:	n/a	chr14:56047371-56047381

No.	Distal block	Cell Line	Cell type
1	chr14:55737342..55739119-chr14:56046136..56048438,2	K562	blood:
2	chr14:56046261..56047012-chr19:41869306..41870109,2	NB4	blood:
3	chr14:56022620..56026445-chr14:56044953..56047966,3	MCF-7	breast:
4	chr14:55905450..55907568-chr14:56045550..56047292,2	MCF-7	breast:
5	chr14:56046559..56049206-chr14:56078372..56080917,2	MCF-7	breast:
6	chr12:21654164..21654736-chr14:56046727..56047402,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBPL2-1	chr14:56046654-56046814	ENSG00000186615
2	lnc-TBPL2-1	chr14:56046654-56046828	ENSG00000186615
3	lnc-TBPL2-1	chr14:56046654-56046810	ENSG00000186615
4	lnc-TBPL2-1	chr14:56046654-56046810	XLOC_011036
5	lnc-TBPL2-1	chr14:56046654-56046810	XLOC_011036
6	lnc-TBPL2-1	chr14:56046654-56046810	ENSG00000186615.6

Variant related genes	Relation type
KTN1	TF binding region
KTN1-AS1	TF binding region
ENSG00000126777	Chromatin interaction
ENSG00000123810	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000182521	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000178974	Chromatin interaction
ENSG00000111711	Chromatin interaction
ENSG00000258413	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv3375073	chr14:56045749-56048597	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3345234	chr14:56045824-56048372	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs111309189	KTN1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56045200-56048000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:56045200-56048200	Active TSS	NHDF-Ad	bronchial
3	chr14:56045200-56048400	Active TSS	Ovary	ovary
4	chr14:56045200-56048400	Active TSS	A549	lung
5	chr14:56045200-56050000	Active TSS	GM12878-XiMat	blood
6	chr14:56045400-56047200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:56045400-56047800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:56045400-56047800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:56045400-56048000	Active TSS	Brain Cingulate Gyrus	brain
10	chr14:56045400-56048000	Active TSS	Brain Hippocampus Middle	brain
11	chr14:56045400-56048000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr14:56045400-56048000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:56045400-56048000	Active TSS	Right Ventricle	heart
14	chr14:56045400-56048200	Active TSS	HMEC	breast
15	chr14:56045400-56048400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:56045600-56047600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:56045600-56048000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr14:56045600-56048000	Active TSS	Brain Anterior Caudate	brain
19	chr14:56045600-56048000	Active TSS	Fetal Intestine Large	intestine
20	chr14:56045600-56048200	Active TSS	Colon Smooth Muscle	Colon
21	chr14:56045600-56048200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr14:56045600-56048200	Active TSS	Rectal Smooth Muscle	rectum
23	chr14:56045600-56048400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr14:56045600-56048400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:56045600-56048400	Active TSS	Pancreas	Pancrea
26	chr14:56045600-56048600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr14:56045600-56048800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr14:56045600-56048800	Active TSS	NHLF	lung
29	chr14:56045600-56049000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:56045600-56050000	Active TSS	Right Atrium	heart
31	chr14:56045600-56051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:56045800-56046800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr14:56045800-56046800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:56045800-56047800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:56045800-56047800	Active TSS	Liver	Liver
36	chr14:56045800-56047800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:56045800-56047800	Active TSS	Fetal Lung	lung
38	chr14:56045800-56047800	Active TSS	Spleen	Spleen
39	chr14:56045800-56048200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr14:56045800-56048200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:56045800-56048200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:56045800-56048200	Active TSS	Aorta	Aorta
43	chr14:56045800-56048200	Active TSS	Esophagus	oesophagus
44	chr14:56045800-56048400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr14:56045800-56048400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:56045800-56048400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:56045800-56048400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:56045800-56048400	Active TSS	Psoas Muscle	Psoas
49	chr14:56045800-56048600	Active TSS	Colonic Mucosa	Colon
50	chr14:56046000-56046800	Flanking Active TSS	Primary B cells from cord blood	blood

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