Variant report

Variant	rs28366673
Chromosome Location	chr14:56050531-56050532
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:56050525-56050915	K562	blood:	n/a	n/a
2	GATA3	chr14:56050454-56051092	SH-SY5Y	brain:	n/a	n/a
3	GATA2	chr14:56050433-56051230	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr14:56050468-56051064	SK-N-SH	brain:	n/a	n/a
5	MAX	chr14:56050476-56051290	Hela-S3	cervix:	n/a	n/a
6	WRNIP1	chr14:56050479-56051019	GM12878	blood:	n/a	n/a
7	KAP1	chr14:56050493-56051465	U2OS	brain:	n/a	n/a
8	KAP1	chr14:56050300-56051476	HEK293	kidney:	n/a	n/a
9	POLR2A	chr14:56050308-56051496	HepG2	liver:	n/a	n/a
10	ZNF263	chr14:56050375-56051394	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:56045115..56047584-chr14:56049131..56050750,2	K562	blood:
2	chr14:56047768..56050679-chr14:56060569..56062105,2	K562	blood:
3	chr14:56050224..56053643-chr14:56057156..56060698,4	MCF-7	breast:
4	chr14:56047540..56051954-chr14:56053859..56059782,6	K562	blood:
5	chr14:56048425..56050750-chr14:56067419..56069440,2	MCF-7	breast:

No data

Variant related genes	Relation type
KTN1-AS1	TF binding region
ENSG00000126777	Chromatin interaction
ENSG00000186615	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083493	0.82[AFR][1000 genomes]
rs10129537	1.00[AMR][1000 genomes]
rs10135124	1.00[AMR][1000 genomes]
rs10135509	1.00[EUR][1000 genomes]
rs10137340	0.86[AFR][1000 genomes]
rs10142497	0.82[AFR][1000 genomes]
rs10142757	0.94[AFR][1000 genomes]
rs10142869	1.00[AMR][1000 genomes]
rs10143002	0.91[AFR][1000 genomes]
rs10148188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148983	0.94[AFR][1000 genomes]
rs13379264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379340	0.86[AFR][1000 genomes]
rs13379342	0.94[AFR][1000 genomes]
rs13379343	0.88[AFR][1000 genomes]
rs13379353	0.86[AFR][1000 genomes]
rs17683656	0.94[AFR][1000 genomes]
rs28373835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409547	0.80[AFR][1000 genomes]
rs28478195	0.82[AFR][1000 genomes]
rs28534706	1.00[EUR][1000 genomes]
rs28558467	1.00[EUR][1000 genomes]
rs28656140	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9944028	0.94[AFR][1000 genomes]
rs9972177	0.86[AFR][1000 genomes]
rs9972178	0.94[AFR][1000 genomes]
rs9972180	0.94[AFR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56045600-56051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:56048200-56050600	Weak transcription	Aorta	Aorta
3	chr14:56048200-56054200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:56048400-56050600	Weak transcription	Pancreas	Pancrea
6	chr14:56048400-56050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:56048400-56052000	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:56048400-56052800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:56048400-56055200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:56048400-56056000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
12	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:56048600-56050600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:56048600-56050600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:56048600-56050600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:56048600-56050600	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:56048600-56050600	Weak transcription	Gastric	stomach
18	chr14:56048600-56050600	Weak transcription	Psoas Muscle	Psoas
19	chr14:56048600-56050600	Weak transcription	Spleen	Spleen
20	chr14:56048600-56050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:56048600-56050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:56048600-56050800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:56048600-56050800	Weak transcription	Colonic Mucosa	Colon
24	chr14:56048600-56050800	Weak transcription	Fetal Intestine Large	intestine
25	chr14:56048600-56050800	Weak transcription	Left Ventricle	heart
26	chr14:56048600-56051200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:56048600-56051200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr14:56048600-56051400	Enhancers	Primary hematopoietic stem cells	blood
29	chr14:56048600-56051400	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:56048600-56051600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:56048600-56051600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:56048600-56052400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:56048600-56052400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:56048600-56052800	Weak transcription	Thymus	Thymus
35	chr14:56048600-56053000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:56048600-56053600	Enhancers	Osteobl	bone
37	chr14:56048600-56054000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:56048600-56055400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:56048600-56055400	Enhancers	Liver	Liver
40	chr14:56048600-56058400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:56048600-56060400	Weak transcription	Brain Substantia Nigra	brain
42	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr14:56048800-56051000	Enhancers	NHDF-Ad	bronchial
44	chr14:56048800-56051200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:56048800-56051400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr14:56048800-56055000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:56049000-56051200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:56049000-56051200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:56049000-56051200	Enhancers	Dnd41	blood
50	chr14:56049000-56051800	Enhancers	HepG2	liver

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