Variant report

Variant	rs17128607
Chromosome Location	chr14:56068263-56068264
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	YY1	chr14:56067924-56068410	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr14:56067611-56068528	A549	lung:	n/a	n/a
3	MYC	chr14:56067803-56068265	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr14:56067385-56068314	Hela-S3	cervix:	n/a	chr14:56067693-56067709 chr14:56067691-56067711 chr14:56067694-56067708
5	GATA3	chr14:56067788-56068529	SK-N-SH	brain:	n/a	n/a
6	TCF7L2	chr14:56067819-56068280	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr14:56067812-56068326	A549	lung:	n/a	n/a
8	FOSL2	chr14:56067516-56068439	A549	lung:	n/a	chr14:56067975-56067982 chr14:56068223-56068233 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
9	CEBPB	chr14:56067627-56068350	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr14:56067855-56068358	A549	lung:	n/a	n/a
11	FOS	chr14:56067601-56068440	HUVEC	blood vessel:	n/a	chr14:56067975-56067982 chr14:56067972-56067983 chr14:56068223-56068233 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
12	STAT3	chr14:56067705-56068276	MCF10A-Er-Src	breast:	n/a	chr14:56068241-56068249
13	EP300	chr14:56067642-56068294	Hela-S3	cervix:	n/a	chr14:56067746-56067755 chr14:56067973-56067982
14	EP300	chr14:56067722-56068336	A549	lung:	n/a	chr14:56067746-56067755 chr14:56067973-56067982
15	FOSL2	chr14:56067591-56068438	SK-N-SH	brain:	n/a	chr14:56067975-56067982 chr14:56068223-56068233 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
16	FOS	chr14:56067591-56068323	MCF10A-Er-Src	breast:	n/a	chr14:56067975-56067982 chr14:56067972-56067983 chr14:56068223-56068233 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
17	JUND	chr14:56067615-56068468	SK-N-SH	brain:	n/a	chr14:56067975-56067982 chr14:56068223-56068233 chr14:56067972-56067983 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
18	STAT3	chr14:56067709-56068285	MCF10A-Er-Src	breast:	n/a	chr14:56068241-56068249
19	JUND	chr14:56067540-56068362	Hela-S3	cervix:	n/a	chr14:56067975-56067982 chr14:56068223-56068233 chr14:56067972-56067983 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
20	STAT3	chr14:56067714-56068289	MCF10A-Er-Src	breast:	n/a	chr14:56068241-56068249
21	EP300	chr14:56067735-56068337	A549	lung:	n/a	chr14:56067746-56067755 chr14:56067973-56067982
22	FOS	chr14:56067659-56068385	MCF10A-Er-Src	breast:	n/a	chr14:56067975-56067982 chr14:56067972-56067983 chr14:56068223-56068233 chr14:56068307-56068319 chr14:56068223-56068233 chr14:56067973-56067982
23	FOS	chr14:56067562-56068310	MCF10A-Er-Src	breast:	n/a	chr14:56067975-56067982 chr14:56067972-56067983 chr14:56068223-56068233 chr14:56068223-56068233 chr14:56067973-56067982

Variant related genes	Relation type
KTN1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10135124	1.00[EUR][1000 genomes]
rs28505708	1.00[EUR][1000 genomes]
rs28625011	1.00[EUR][1000 genomes]
rs55996108	1.00[EUR][1000 genomes]
rs59412666	1.00[EUR][1000 genomes]
rs59453610	1.00[EUR][1000 genomes]
rs60593092	1.00[EUR][1000 genomes]
rs61376005	1.00[EUR][1000 genomes]
rs73289560	1.00[EUR][1000 genomes]
rs74051604	1.00[EUR][1000 genomes]
rs74051605	1.00[EUR][1000 genomes]
rs74051606	1.00[EUR][1000 genomes]
rs74051613	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
3	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:56051200-56069000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:56052000-56068400	Weak transcription	Left Ventricle	heart
7	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:56053200-56069400	Weak transcription	Aorta	Aorta
9	chr14:56055200-56069200	Weak transcription	Primary T cells from cord blood	blood
10	chr14:56056200-56068400	Weak transcription	Right Ventricle	heart
11	chr14:56056200-56076000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:56058600-56070600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:56059400-56070000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:56059800-56069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:56060400-56072000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:56060800-56069600	Weak transcription	Small Intestine	intestine
17	chr14:56061000-56068400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:56061000-56085400	Weak transcription	Fetal Kidney	kidney
19	chr14:56061000-56085400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:56061200-56082400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:56062000-56068400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:56062000-56069400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:56062000-56070400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:56064200-56082800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:56064600-56068400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:56065000-56069000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:56066000-56068400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:56066000-56068400	Enhancers	NHEK	skin
29	chr14:56066200-56069000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:56066200-56070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:56066400-56068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:56066400-56068400	Weak transcription	Pancreas	Pancrea
33	chr14:56066400-56069000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:56066400-56069000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:56066400-56070400	Weak transcription	Psoas Muscle	Psoas
36	chr14:56066400-56070600	Weak transcription	Thymus	Thymus
37	chr14:56066400-56079000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:56066400-56079800	Weak transcription	K562	blood
39	chr14:56066600-56068400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:56066600-56068400	Weak transcription	Colonic Mucosa	Colon
41	chr14:56066600-56068600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:56066600-56068600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:56066600-56068800	Flanking Active TSS	A549	lung
44	chr14:56066600-56069400	Enhancers	Hela-S3	cervix
45	chr14:56066600-56070200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr14:56066600-56070400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:56066600-56072400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:56066600-56076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:56066600-56079000	Weak transcription	Fetal Intestine Large	intestine
50	chr14:56066600-56079200	Weak transcription	Placenta	Placenta

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