Variant report

Variant	rs72719457
Chromosome Location	chr14:56049483-56049484
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	POLR2A	chr14:56049389-56049637	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr14:56049416-56049816	GM12891	blood:	n/a	chr14:56049696-56049709 chr14:56049705-56049714 chr14:56049698-56049705 chr14:56049697-56049706
3	EBF1	chr14:56049323-56049783	GM12878	blood:	n/a	chr14:56049470-56049481 chr14:56049469-56049482
4	NFIC	chr14:56049299-56049789	GM12878	blood:	n/a	n/a
5	SPI1	chr14:56049439-56049856	GM12891	blood:	n/a	chr14:56049696-56049709 chr14:56049705-56049714 chr14:56049698-56049705 chr14:56049697-56049706

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	chr14:56047540..56051954-chr14:56053859..56059782,6	K562	blood:
4	chr14:56048425..56050750-chr14:56067419..56069440,2	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11626238	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12147188	1.00[AFR][1000 genomes]
rs2147119	1.00[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56045200-56050000	Active TSS	GM12878-XiMat	blood
2	chr14:56045600-56050000	Active TSS	Right Atrium	heart
3	chr14:56045600-56051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:56047600-56050000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:56047800-56049800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:56048200-56050600	Weak transcription	Aorta	Aorta
7	chr14:56048200-56054200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:56048400-56050400	Weak transcription	Placenta	Placenta
10	chr14:56048400-56050600	Weak transcription	Pancreas	Pancrea
11	chr14:56048400-56050800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:56048400-56052000	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:56048400-56052800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:56048400-56055200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:56048400-56056000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
17	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:56048600-56049600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:56048600-56049600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:56048600-56049600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:56048600-56049600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:56048600-56049600	Enhancers	HUVEC	blood vessel
23	chr14:56048600-56049800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:56048600-56049800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:56048600-56049800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:56048600-56049800	Weak transcription	Fetal Kidney	kidney
27	chr14:56048600-56049800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:56048600-56050400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:56048600-56050400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:56048600-56050400	Weak transcription	Brain Angular Gyrus	brain
31	chr14:56048600-56050400	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:56048600-56050400	Weak transcription	Ovary	ovary
33	chr14:56048600-56050400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:56048600-56050400	Weak transcription	Small Intestine	intestine
35	chr14:56048600-56050600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:56048600-56050600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:56048600-56050600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:56048600-56050600	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:56048600-56050600	Weak transcription	Gastric	stomach
40	chr14:56048600-56050600	Weak transcription	Psoas Muscle	Psoas
41	chr14:56048600-56050600	Weak transcription	Spleen	Spleen
42	chr14:56048600-56050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:56048600-56050800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:56048600-56050800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:56048600-56050800	Weak transcription	Colonic Mucosa	Colon
46	chr14:56048600-56050800	Weak transcription	Fetal Intestine Large	intestine
47	chr14:56048600-56050800	Weak transcription	Left Ventricle	heart
48	chr14:56048600-56051200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:56048600-56051200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:56048600-56051400	Enhancers	Primary hematopoietic stem cells	blood

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