Variant report

Variant	rs60262326
Chromosome Location	chr14:21906250-21906251
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:21905256-21906349	HepG2	liver:	n/a	chr14:21906041-21906053
2	CEBPB	chr14:21906144-21906401	K562	blood:	n/a	n/a
3	CEBPB	chr14:21906132-21906308	HepG2	liver:	n/a	n/a
4	MYBL2	chr14:21905069-21906295	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:21906134-21906344	H1-hESC	embryonic stem cell:	n/a	n/a
6	MBD4	chr14:21905042-21906294	HepG2	liver:	n/a	n/a
7	HEY1	chr14:21905134-21906304	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:21906128-21906332	IMR90	lung:	n/a	n/a
9	HCFC1	chr14:21904974-21906340	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr14:21906118-21906412	HepG2	liver:	n/a	n/a
11	FOXA2	chr14:21905834-21906295	HepG2	liver:	n/a	chr14:21906041-21906053
12	CREB1	chr14:21905003-21906316	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:21906121-21906412	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:21904969-21906303	HepG2	liver:	n/a	n/a
15	REST	chr14:21904779-21906272	H1-neurons	neurons:	n/a	n/a
16	MYBL2	chr14:21905097-21906395	HepG2	liver:	n/a	n/a
17	FOXA1	chr14:21905715-21906266	HepG2	liver:	n/a	chr14:21906041-21906053

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21903199..21908176-chr14:21922150..21927422,17	MCF-7	breast:
2	chr14:21902087..21907117-chr14:21919849..21925728,16	MCF-7	breast:
3	chr14:21904269..21906743-chr14:21992458..21995215,2	K562	blood:
4	chr14:21904171..21908174-chr14:21922677..21925847,6	K562	blood:
5	chr14:21903666..21907303-chr14:21944223..21946943,4	K562	blood:
6	chr14:21903062..21910356-chr14:21920914..21926084,11	K562	blood:

No data

Variant related genes	Relation type
CHD8	TF binding region
ENSG00000129472	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000165821	Chromatin interaction
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17104027	0.82[EUR][1000 genomes]
rs17105120	0.88[EUR][1000 genomes]
rs56085953	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57764234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57968228	0.88[EUR][1000 genomes]
rs58673747	0.94[EUR][1000 genomes]
rs58981052	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61752837	0.81[EUR][1000 genomes]
rs61971521	0.82[EUR][1000 genomes]
rs61971523	0.81[EUR][1000 genomes]
rs61971524	0.88[EUR][1000 genomes]
rs61971525	0.81[EUR][1000 genomes]
rs61973163	0.88[EUR][1000 genomes]
rs61973164	0.88[EUR][1000 genomes]
rs61973165	0.88[EUR][1000 genomes]
rs61973169	0.88[EUR][1000 genomes]
rs61973170	0.88[EUR][1000 genomes]
rs61973172	0.81[EUR][1000 genomes]
rs61973173	0.88[EUR][1000 genomes]
rs61973174	0.88[EUR][1000 genomes]
rs61973175	0.88[EUR][1000 genomes]
rs61973178	0.88[EUR][1000 genomes]
rs61973179	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973181	0.88[EUR][1000 genomes]
rs61973182	0.88[EUR][1000 genomes]
rs61973183	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973186	1.00[EUR][1000 genomes]
rs61973188	0.94[EUR][1000 genomes]
rs61973189	0.94[EUR][1000 genomes]
rs61973190	0.88[EUR][1000 genomes]
rs61973191	0.94[EUR][1000 genomes]
rs61973192	0.94[EUR][1000 genomes]
rs61973193	0.94[EUR][1000 genomes]
rs61977522	0.82[EUR][1000 genomes]
rs61977523	0.82[EUR][1000 genomes]
rs7141803	0.88[EUR][1000 genomes]
rs7160222	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8006302	1.00[EUR][1000 genomes]
rs8016474	0.88[EUR][1000 genomes]
rs8021793	0.82[EUR][1000 genomes]
rs8022558	0.88[EUR][1000 genomes]
rs8023081	0.88[EUR][1000 genomes]
rs9944063	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1051407	chr14:21692670-21907366	Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv541984	chr14:21692670-21907366	Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv530010	chr14:21692670-21923767	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21904400-21906400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:21904800-21906400	Active TSS	Colon Smooth Muscle	Colon
3	chr14:21904800-21906400	Active TSS	HSMM	muscle
4	chr14:21905000-21906400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:21905600-21906400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:21905600-21906400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:21905600-21906400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr14:21905600-21910400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:21905800-21906400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:21905800-21906400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:21905800-21906400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:21905800-21906400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr14:21905800-21906400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr14:21905800-21906400	Flanking Active TSS	Dnd41	blood
15	chr14:21906000-21906400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:21906000-21906400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:21906000-21906400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:21906000-21906400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:21906000-21906400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:21906000-21906400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:21906000-21906400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr14:21906000-21906400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:21906000-21906400	Enhancers	Placenta	Placenta
24	chr14:21906000-21906400	Enhancers	Fetal Thymus	thymus
25	chr14:21906000-21906400	Enhancers	Gastric	stomach
26	chr14:21906000-21906400	Enhancers	Left Ventricle	heart
27	chr14:21906000-21906400	Enhancers	Pancreas	Pancrea
28	chr14:21906000-21906400	Enhancers	Stomach Mucosa	stomach
29	chr14:21906000-21906400	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr14:21906000-21906600	Enhancers	Spleen	Spleen
31	chr14:21906000-21909200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:21906000-21910400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:21906000-21923400	Weak transcription	Aorta	Aorta
34	chr14:21906200-21906400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:21906200-21906400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:21906200-21906400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr14:21906200-21906400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr14:21906200-21906400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:21906200-21906400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:21906200-21906400	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:21906200-21906400	Enhancers	Primary T cells from cord blood	blood
42	chr14:21906200-21906400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr14:21906200-21906400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:21906200-21906400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr14:21906200-21906400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:21906200-21906400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:21906200-21906400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:21906200-21906400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:21906200-21906400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:21906200-21906400	Enhancers	Cortex derived primary cultured neurospheres	brain

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