Variant report

Variant	rs562714317
Chromosome Location	chr1:154297067-154297068
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	chr1:154296951-154298155	H1-hESC	embryonic stem cell:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
2	CTCF	chr1:154296863-154297688	HCT-116	colon:	n/a	n/a
3	TCF12	chr1:154296949-154297904	A549	lung:	n/a	n/a
4	TCF12	chr1:154297049-154297357	GM12878	blood:	n/a	n/a
5	SMC3	chr1:154297065-154297378	HepG2	liver:	n/a	n/a
6	RAD21	chr1:154296997-154297432	HepG2	liver:	n/a	n/a
7	CTCF	chr1:154297006-154297405	A549	lung:	n/a	n/a
8	CTCF	chr1:154296731-154298022	A549	lung:	n/a	n/a
9	YY1	chr1:154297027-154298458	GM12878	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
10	RAD21	chr1:154297014-154297478	A549	lung:	n/a	n/a
11	ZBTB7A	chr1:154296988-154297624	K562	blood:	n/a	n/a
12	YY1	chr1:154296971-154298420	HepG2	liver:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
13	ZNF263	chr1:154296883-154297924	HEK293-T-REx	kidney:	n/a	n/a
14	RCOR1	chr1:154297036-154297883	K562	blood:	n/a	n/a
15	RAD21	chr1:154297049-154297479	HepG2	liver:	n/a	n/a
16	CTCF	chr1:154297047-154297449	H1-hESC	embryonic stem cell:	n/a	n/a
17	ETS1	chr1:154297031-154297408	A549	lung:	n/a	n/a
18	SP1	chr1:154296989-154297486	GM12878	blood:	n/a	n/a
19	YY1	chr1:154297050-154298082	A549	lung:	n/a	chr1:154297917-154297925 chr1:154297906-154297928
20	YY1	chr1:154297021-154298443	GM12892	blood:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
21	CTCF	chr1:154297002-154297408	ECC-1	luminal epithelium:	n/a	n/a
22	REST	chr1:154296963-154297444	A549	lung:	n/a	n/a
23	CTCF	chr1:154297062-154297514	HepG2	liver:	n/a	n/a
24	STAT5A	chr1:154297007-154297412	GM12878	blood:	n/a	n/a
25	RUNX3	chr1:154296996-154297662	GM12878	blood:	n/a	n/a
26	CTCF	chr1:154297030-154297479	HepG2	liver:	n/a	n/a
27	MAZ	chr1:154297054-154298431	GM12878	blood:	n/a	n/a
28	CHD2	chr1:154297007-154297206	K562	blood:	n/a	n/a
29	RAD21	chr1:154297033-154297438	IMR90	lung:	n/a	n/a
30	POLR2A	chr1:154297035-154299414	H1-neurons	neurons:	n/a	n/a
31	HCFC1	chr1:154297050-154298131	K562	blood:	n/a	n/a
32	CTCF	chr1:154297067-154297618	K562	blood:	n/a	n/a
33	CTCF	chr1:154296487-154298353	SK-N-SH	brain:	n/a	n/a
34	MAX	chr1:154296939-154298130	A549	lung:	n/a	n/a
35	CTCF	chr1:154297001-154297440	A549	lung:	n/a	n/a
36	CTCF	chr1:154297032-154297423	T-47D	breast:	n/a	n/a
37	YY1	chr1:154296959-154298343	SK-N-SH	brain:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
38	STAT5A	chr1:154297024-154297369	GM12878	blood:	n/a	n/a
39	CTCF	chr1:154297016-154297497	GM12878	blood:	n/a	n/a
40	RAD21	chr1:154297062-154297348	SK-N-SH_RA	brain:	n/a	n/a
41	YY1	chr1:154297029-154298312	SK-N-SH_RA	brain:	n/a	chr1:154297917-154297925 chr1:154298266-154298277 chr1:154297906-154297928
42	CBX3	chr1:154296980-154297435	K562	blood:	n/a	n/a
43	RAD21	chr1:154297047-154297361	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:154297032-154298939	H1-neurons	neurons:	n/a	n/a
45	NRF1	chr1:154297063-154297308	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF3	chr1:154297047-154297441	GM12878	blood:	n/a	n/a
47	TEAD4	chr1:154296951-154297443	HepG2	liver:	n/a	n/a
48	RAD21	chr1:154296973-154297339	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr1:154296992-154297515	MCF-7	breast:	n/a	n/a
50	TEAD4	chr1:154296974-154297473	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000228013	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000143515	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154293600-154297200	Weak transcription	Gastric	stomach
2	chr1:154293800-154297200	Weak transcription	Left Ventricle	heart
3	chr1:154293800-154297200	Weak transcription	Pancreas	Pancrea
4	chr1:154293800-154297200	Weak transcription	Right Atrium	heart
5	chr1:154296400-154297400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:154296600-154297200	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:154296600-154297200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:154296600-154297600	Flanking Active TSS	Dnd41	blood
9	chr1:154296600-154298400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:154296800-154297200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:154296800-154297200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:154296800-154297200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:154296800-154297200	Enhancers	Primary B cells from cord blood	blood
14	chr1:154296800-154297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:154296800-154297200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:154296800-154297200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:154296800-154297200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:154296800-154297200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:154296800-154297200	Enhancers	Colon Smooth Muscle	Colon
20	chr1:154296800-154297200	Enhancers	Esophagus	oesophagus
21	chr1:154296800-154297200	Enhancers	Fetal Brain Male	brain
22	chr1:154296800-154297200	Enhancers	Fetal Heart	heart
23	chr1:154296800-154297200	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr1:154296800-154297200	Enhancers	Fetal Muscle Leg	muscle
25	chr1:154296800-154297200	Bivalent Enhancer	Fetal Stomach	stomach
26	chr1:154296800-154297200	Enhancers	Fetal Thymus	thymus
27	chr1:154296800-154297200	Enhancers	Ovary	ovary
28	chr1:154296800-154297200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
29	chr1:154296800-154297200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr1:154296800-154297200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr1:154296800-154297200	Enhancers	GM12878-XiMat	blood
32	chr1:154296800-154297200	Enhancers	HSMMtube	muscle
33	chr1:154296800-154297400	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr1:154297000-154297200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:154297000-154297200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr1:154297000-154297200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:154297000-154297200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:154297000-154297200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:154297000-154297200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:154297000-154297200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:154297000-154297200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:154297000-154297200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr1:154297000-154297200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr1:154297000-154297200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr1:154297000-154297200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:154297000-154297200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr1:154297000-154297200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:154297000-154297200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr1:154297000-154297200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
50	chr1:154297000-154297200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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