Variant report

Variant	rs142224753
Chromosome Location	chr1:154297323-154297324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:214)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:214 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:154297111-154297398	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr1:154296951-154298155	H1-hESC	embryonic stem cell:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
3	SIN3AK20	chr1:154297126-154297510	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr1:154296863-154297688	HCT-116	colon:	n/a	n/a
5	TCF12	chr1:154296949-154297904	A549	lung:	n/a	n/a
6	CTCF	chr1:154297099-154297506	NHEK	skin:	n/a	n/a
7	TCF12	chr1:154297049-154297357	GM12878	blood:	n/a	n/a
8	SMC3	chr1:154297065-154297378	HepG2	liver:	n/a	n/a
9	YY1	chr1:154297124-154297461	HCT-116	colon:	n/a	n/a
10	RAD21	chr1:154296997-154297432	HepG2	liver:	n/a	n/a
11	CTCF	chr1:154297006-154297405	A549	lung:	n/a	n/a
12	CTCF	chr1:154296731-154298022	A549	lung:	n/a	n/a
13	HDAC2	chr1:154297074-154297405	K562	blood:	n/a	n/a
14	EBF1	chr1:154297104-154297444	GM12878	blood:	n/a	n/a
15	CHD2	chr1:154297236-154297436	HepG2	liver:	n/a	n/a
16	YY1	chr1:154297027-154298458	GM12878	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
17	RAD21	chr1:154297014-154297478	A549	lung:	n/a	n/a
18	TCF12	chr1:154297081-154297345	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:154297086-154297599	GM19240	blood:	n/a	n/a
20	ZBTB7A	chr1:154296988-154297624	K562	blood:	n/a	n/a
21	YY1	chr1:154296971-154298420	HepG2	liver:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
22	RAD21	chr1:154297089-154297347	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:154297152-154297594	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF263	chr1:154296883-154297924	HEK293-T-REx	kidney:	n/a	n/a
25	RCOR1	chr1:154297036-154297883	K562	blood:	n/a	n/a
26	POLR2A	chr1:154297213-154297699	ProgFib	skin:	n/a	n/a
27	RAD21	chr1:154297049-154297479	HepG2	liver:	n/a	n/a
28	RAD21	chr1:154297076-154297398	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:154297047-154297449	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr1:154297174-154299113	HepG2	liver:	n/a	n/a
31	CTCF	chr1:154297086-154297382	Pancreas_OC	pancreas:	n/a	n/a
32	ETS1	chr1:154297031-154297408	A549	lung:	n/a	n/a
33	CTCF	chr1:154297111-154297409	Fibrobl	skin:	n/a	n/a
34	SP1	chr1:154296989-154297486	GM12878	blood:	n/a	n/a
35	YY1	chr1:154297050-154298082	A549	lung:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
36	YY1	chr1:154297021-154298443	GM12892	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
37	EP300	chr1:154297150-154297345	K562	blood:	n/a	n/a
38	CTCF	chr1:154297002-154297408	ECC-1	luminal epithelium:	n/a	n/a
39	REST	chr1:154296963-154297444	A549	lung:	n/a	n/a
40	JUND	chr1:154297103-154297395	K562	blood:	n/a	n/a
41	YY1	chr1:154297126-154297449	K562	blood:	n/a	n/a
42	CTCF	chr1:154297062-154297514	HepG2	liver:	n/a	n/a
43	EGR1	chr1:154297317-154297505	GM12878	blood:	n/a	n/a
44	STAT5A	chr1:154297007-154297412	GM12878	blood:	n/a	n/a
45	MYC	chr1:154297141-154297379	K562	blood:	n/a	n/a
46	RUNX3	chr1:154296996-154297662	GM12878	blood:	n/a	n/a
47	CTCF	chr1:154297030-154297479	HepG2	liver:	n/a	n/a
48	MAZ	chr1:154297054-154298431	GM12878	blood:	n/a	n/a
49	RAD21	chr1:154297033-154297438	IMR90	lung:	n/a	n/a
50	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154231693..154234092-chr1:154297283..154300191,2	K562	blood:
2	chr1:154194086..154195906-chr1:154295331..154297621,3	K562	blood:
3	chr1:154296971..154297737-chr1:154317688..154318407,2	MCF-7	breast:
4	chr1:154296772..154297582-chr1:154377760..154378418,3	MCF-7	breast:
5	chr1:154295888..154297702-chr1:154299900..154302561,2	K562	blood:
6	chr1:154296377..154299135-chr1:154376809..154380119,3	MCF-7	breast:
7	chr1:154296862..154297663-chr1:154307293..154308165,3	MCF-7	breast:
8	chr1:154296724..154297553-chr1:154396976..154397711,2	MCF-7	breast:
9	chr1:154244884..154247394-chr1:154296390..154298976,2	K562	blood:
10	chr1:154194086..154195833-chr1:154296026..154297621,2	K562	blood:

No data

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000160712	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000201129	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv523934	chr1:154296076-154307630	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
9	esv3437862	chr1:154296853-154299701	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154296400-154297400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:154296600-154297600	Flanking Active TSS	Dnd41	blood
3	chr1:154296600-154298400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:154296800-154297400	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr1:154297000-154297400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:154297000-154297400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:154297000-154297400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr1:154297000-154297400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr1:154297000-154297400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:154297000-154297400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:154297000-154297400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:154297000-154297400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr1:154297000-154297400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:154297000-154297400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:154297000-154297400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:154297000-154297400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr1:154297000-154297400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr1:154297000-154297400	Active TSS	Hela-S3	cervix
19	chr1:154297000-154297600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr1:154297000-154297600	Flanking Active TSS	K562	blood
21	chr1:154297000-154297800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:154297000-154297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:154297000-154297800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:154297000-154297800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
25	chr1:154297000-154298200	Active TSS	Primary hematopoietic stem cells	blood
26	chr1:154297000-154298400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:154297000-154298400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:154297000-154298600	Active TSS	Brain Anterior Caudate	brain
29	chr1:154297000-154298600	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:154297000-154298600	Active TSS	Brain Germinal Matrix	brain
31	chr1:154297000-154298600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr1:154297000-154298600	Active TSS	Thymus	Thymus
33	chr1:154297000-154298600	Active TSS	HSMM	muscle
34	chr1:154297000-154298600	Active TSS	HUVEC	blood vessel
35	chr1:154297000-154298600	Active TSS	NHEK	skin
36	chr1:154297000-154299000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:154297000-154299000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:154297000-154299000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr1:154297000-154299000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:154297000-154299000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:154297000-154299000	Active TSS	Right Ventricle	heart
42	chr1:154297000-154299000	Active TSS	Osteobl	bone
43	chr1:154297000-154299200	Active TSS	NHDF-Ad	bronchial
44	chr1:154297000-154299400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:154297200-154297400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:154297200-154297400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:154297200-154297400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:154297200-154297400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:154297200-154297400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:154297200-154297400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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