Variant report

Variant	rs14053
Chromosome Location	chr8:11421709-11421710
allele	C/G
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	ATF2	chr8:11421419-11423115	GM12878	blood:	n/a	n/a
2	USF2	chr8:11421630-11421772	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:11420963-11422504	GM12878	blood:	n/a	n/a
4	MTA3	chr8:11421576-11422484	GM12878	blood:	n/a	n/a
5	STAT5A	chr8:11421220-11423792	GM12878	blood:	n/a	chr8:11422161-11422172 chr8:11423050-11423058 chr8:11423608-11423620
6	POLR2A	chr8:11420138-11422456	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:11421105-11423866	GM12892	blood:	n/a	n/a
8	POLR2A	chr8:11420282-11423813	GM19193	blood:	n/a	n/a
9	ZNF143	chr8:11421443-11421721	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:11420541-11423799	GM12878	blood:	n/a	n/a
11	MAX	chr8:11421381-11422522	A549	lung:	n/a	n/a
12	RAD21	chr8:11421465-11422487	SK-N-SH_RA	brain:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
13	RAD21	chr8:11421359-11422484	H1-hESC	embryonic stem cell:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
14	CTCF	chr8:11421487-11422352	H1-hESC	embryonic stem cell:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
15	RAD21	chr8:11421410-11422523	H1-hESC	embryonic stem cell:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
16	ELF1	chr8:11421373-11422466	GM12878	blood:	n/a	chr8:11422221-11422233
17	POLR2A	chr8:11420200-11423844	GM12878	blood:	n/a	n/a
18	CTCF	chr8:11421557-11422720	A549	lung:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
19	CTBP2	chr8:11421254-11422371	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr8:11421696-11421975	GM12878	blood:	n/a	n/a
21	CTCF	chr8:11421688-11422447	GM12878	blood:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
22	NFATC1	chr8:11421248-11422846	GM12878	blood:	n/a	n/a
23	CTCF	chr8:11421580-11421730	AG04449	skin:	n/a	n/a
24	SIN3A	chr8:11421514-11422429	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr8:11421492-11421831	HepG2	liver:	n/a	n/a
26	BCLAF1	chr8:11421273-11422842	GM12878	blood:	n/a	chr8:11422235-11422243
27	RAD21	chr8:11421215-11423188	SK-N-SH	brain:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
28	POLR2A	chr8:11419462-11423966	GM12878	blood:	n/a	n/a
29	CHD2	chr8:11421655-11421731	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr8:11421376-11422487	H1-hESC	embryonic stem cell:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
31	CREB1	chr8:11421413-11422479	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr8:11419767-11422454	GM12878	blood:	n/a	n/a
33	BACH1	chr8:11421479-11422408	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:11419550-11423949	GM12878	blood:	n/a	n/a
35	RAD21	chr8:11421703-11421973	SK-N-SH_RA	brain:	n/a	n/a
36	CHD1	chr8:11421560-11421801	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr8:11421577-11422557	IMR90	lung:	n/a	n/a
38	RAD21	chr8:11421262-11422557	H1-hESC	embryonic stem cell:	n/a	chr8:11422230-11422242 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11422225-11422244
39	BCL3	chr8:11421305-11422586	GM12878	blood:	n/a	chr8:11422235-11422243
40	CTCF	chr8:11421580-11421730	GM12865	blood:	n/a	n/a
41	E2F6	chr8:11421104-11422492	H1-hESC	embryonic stem cell:	n/a	chr8:11422166-11422175 chr8:11422284-11422299
42	CTCF	chr8:11421424-11422398	H1-hESC	embryonic stem cell:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
43	CTCF	chr8:11421683-11422523	HCT-116	colon:	n/a	chr8:11422224-11422242 chr8:11422227-11422240
44	POLR2A	chr8:11419616-11423863	GM18505	blood:	n/a	n/a
45	POLR2A	chr8:11421327-11423925	GM12891	blood:	n/a	n/a
46	SMC3	chr8:11420537-11422793	SK-N-SH	brain:	n/a	chr8:11420824-11420838 chr8:11421118-11421126 chr8:11422226-11422240 chr8:11422230-11422240 chr8:11420774-11420784
47	POLR2A	chr8:11421625-11423929	GM12878	blood:	n/a	n/a
48	ESRRA	chr8:11421406-11423039	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:11420979-11422506	GM15510	blood:	n/a	n/a
50	POLR2A	chr8:11421298-11422478	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
2	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
3	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
4	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
5	chr8:11266732..11267234-chr8:11421696..11422273,2	K562	blood:
6	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
7	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:

Variant related genes	Relation type
ENSG00000255354	TF binding region
ENSG00000269954	Chromatin interaction
ENSG00000255518	Chromatin interaction
ENSG00000254774	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1042695	0.86[EUR][1000 genomes]
rs1871295	1.00[EUR][1000 genomes]
rs34417510	0.87[EUR][1000 genomes]
rs6990322	1.00[EUR][1000 genomes]
rs73545875	0.87[EUR][1000 genomes]
rs73545881	0.87[EUR][1000 genomes]
rs73545895	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73549622	0.86[EUR][1000 genomes]
rs746412	0.87[EUR][1000 genomes]
rs7840748	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11420800-11421800	Bivalent Enhancer	Fetal Thymus	thymus
3	chr8:11420800-11422400	Weak transcription	Dnd41	blood
4	chr8:11421000-11421800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr8:11421000-11421800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:11421000-11422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11421000-11422600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr8:11421200-11421800	Enhancers	Primary B cells from cord blood	blood
9	chr8:11421200-11421800	Bivalent Enhancer	Fetal Intestine Small	intestine
10	chr8:11421200-11421800	Enhancers	GM12878-XiMat	blood
11	chr8:11421200-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:11421200-11422400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:11421200-11422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr8:11421200-11422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr8:11421200-11422600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11421200-11422800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:11421200-11422800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:11421400-11421800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:11421400-11421800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:11421400-11421800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:11421400-11421800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
22	chr8:11421400-11421800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr8:11421400-11421800	Bivalent Enhancer	Colonic Mucosa	Colon
24	chr8:11421400-11421800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr8:11421400-11421800	Bivalent/Poised TSS	A549	lung
26	chr8:11421400-11421800	Active TSS	HSMM	muscle
27	chr8:11421400-11422000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:11421400-11422000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:11421400-11422000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:11421400-11422200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr8:11421400-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:11421400-11422200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr8:11421400-11422200	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr8:11421400-11422400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:11421400-11422400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:11421400-11422400	Bivalent Enhancer	Adipose Nuclei	Adipose
39	chr8:11421400-11422400	Flanking Active TSS	Pancreas	Pancrea
40	chr8:11421400-11422400	Bivalent/Poised TSS	HepG2	liver
41	chr8:11421400-11422400	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr8:11421400-11422600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:11421400-11422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:11421400-11422600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr8:11421400-11422600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:11421400-11422600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:11421400-11422600	Bivalent Enhancer	Fetal Brain Male	brain
48	chr8:11421400-11422600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr8:11421400-11422600	Active TSS	Right Atrium	heart
50	chr8:11421400-11422800	Bivalent Enhancer	Liver	Liver

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