Variant report

Variant	rs60341081
Chromosome Location	chr8:95654803-95654804
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	CTCF	chr8:95654343-95655524	A549	lung:	n/a	chr8:95654690-95654703
2	CTCF	chr8:95654680-95654830	GM12872	blood:	n/a	chr8:95654690-95654703
3	CTCF	chr8:95654592-95654806	GM20000	blood:	n/a	chr8:95654690-95654703
4	MXI1	chr8:95654486-95654946	H1-hESC	embryonic stem cell:	n/a	n/a
5	SRF	chr8:95654472-95655308	MCF-7	breast:	n/a	chr8:95654922-95654931 chr8:95654917-95654935 chr8:95654918-95654932 chr8:95654920-95654933 chr8:95654918-95654935 chr8:95654722-95654732 chr8:95654917-95654931
6	CTCF	chr8:95654557-95654821	GM12878	blood:	n/a	chr8:95654690-95654703
7	CTCF	chr8:95654489-95654860	A549	lung:	n/a	chr8:95654690-95654703
8	YY1	chr8:95654333-95654847	H1-hESC	embryonic stem cell:	n/a	chr8:95654422-95654433 chr8:95654578-95654590
9	ZEB1	chr8:95654664-95655160	GM12878	blood:	n/a	chr8:95655000-95655012 chr8:95655001-95655012
10	ELF1	chr8:95654540-95655099	GM12878	blood:	n/a	n/a
11	SP4	chr8:95654496-95654974	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr8:95651241-95655158	H1-hESC	embryonic stem cell:	n/a	chr8:95652515-95652526 chr8:95654956-95654970 chr8:95652755-95652768 chr8:95651778-95651787
13	CTCF	chr8:95654548-95654835	K562	blood:	n/a	chr8:95654690-95654703
14	EGR1	chr8:95652000-95655184	MCF-7	breast:	n/a	chr8:95652687-95652697 chr8:95654431-95654441 chr8:95654431-95654441 chr8:95654429-95654443 chr8:95654432-95654441 chr8:95652683-95652693
15	CTCF	chr8:95654680-95654830	GM12864	blood:	n/a	chr8:95654690-95654703
16	BACH1	chr8:95654192-95654811	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:95654544-95654858	NHEK	skin:	n/a	chr8:95654690-95654703
18	RUNX3	chr8:95654571-95654890	GM12878	blood:	n/a	n/a
19	CTCF	chr8:95654555-95654831	LNCaP	prostate:	n/a	chr8:95654690-95654703
20	YY1	chr8:95654474-95654826	HCT-116	colon:	n/a	chr8:95654578-95654590
21	RAD21	chr8:95654444-95654953	ECC-1	luminal epithelium:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
22	SRF	chr8:95654188-95655340	MCF-7	breast:	n/a	chr8:95654922-95654931 chr8:95654917-95654935 chr8:95654918-95654932 chr8:95654920-95654933 chr8:95654918-95654935 chr8:95654453-95654463 chr8:95654722-95654732 chr8:95654917-95654931
23	POLR2A	chr8:95652375-95655085	H1-hESC	embryonic stem cell:	n/a	n/a
24	SMC3	chr8:95654545-95654857	GM12878	blood:	n/a	chr8:95654693-95654703
25	CTCF	chr8:95654700-95654850	HFF	foreskin:	n/a	n/a
26	CTCF	chr8:95654660-95654810	AG09319	gingival:	n/a	chr8:95654690-95654703
27	CTCF	chr8:95654680-95654830	WI-38	lung:	n/a	chr8:95654690-95654703
28	CTCF	chr8:95654598-95654805	LNCaP	prostate:	n/a	chr8:95654690-95654703
29	TCF12	chr8:95654398-95655267	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr8:95654554-95655006	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr8:95654493-95654886	GM12878	blood:	n/a	chr8:95654690-95654703
32	TAF1	chr8:95654238-95654934	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr8:95654660-95654810	GM12868	blood:	n/a	chr8:95654690-95654703
34	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
35	RAD21	chr8:95654585-95654881	HepG2	liver:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
36	HDAC2	chr8:95654196-95655187	MCF-7	breast:	n/a	n/a
37	SRF	chr8:95654765-95655001	GM12878	blood:	n/a	chr8:95654922-95654931 chr8:95654917-95654935 chr8:95654918-95654932 chr8:95654920-95654933 chr8:95654918-95654935 chr8:95654917-95654931
38	CTCF	chr8:95654740-95654890	A549	lung:	n/a	n/a
39	BHLHE40	chr8:95654686-95654877	GM12878	blood:	n/a	n/a
40	ZNF143	chr8:95654531-95654867	GM12878	blood:	n/a	n/a
41	CREB1	chr8:95654524-95654809	A549	lung:	n/a	n/a
42	CTCF	chr8:95654576-95654825	K562	blood:	n/a	chr8:95654690-95654703
43	CTCF	chr8:95654660-95654810	GM12873	blood:	n/a	chr8:95654690-95654703
44	GATA3	chr8:95654053-95655304	MCF-7	breast:	n/a	chr8:95654575-95654582
45	RAD21	chr8:95654502-95654835	H1-hESC	embryonic stem cell:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
46	CTCF	chr8:95654546-95654848	MCF-7	breast:	n/a	chr8:95654690-95654703
47	CTCF	chr8:95654544-95654828	IMR90	lung:	n/a	chr8:95654690-95654703
48	POLR2A	chr8:95653833-95655022	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:95654516-95654976	MCF-7	breast:	n/a	chr8:95654690-95654703
50	POLR2A	chr8:95654403-95654997	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
2	chr8:95603957..95608238-chr8:95651708..95655027,4	MCF-7	breast:
3	chr8:95624896..95625420-chr8:95654585..95655148,2	MCF-7	breast:
4	chr8:95604280..95605218-chr8:95654234..95655141,4	MCF-7	breast:
5	chr8:95563755..95566398-chr8:95651251..95655119,6	MCF-7	breast:
6	chr8:95579815..95580405-chr8:95654233..95654954,2	MCF-7	breast:
7	chr8:95635473..95635982-chr8:95654256..95654977,2	MCF-7	breast:
8	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
9	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
10	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:

Variant related genes	Relation type
ESRP1	TF binding region
ENSG00000261437	TF binding region
ENSG00000253704	Chromatin interaction
ENSG00000254283	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11985390	1.00[EUR][1000 genomes]
rs11989790	1.00[EUR][1000 genomes]
rs11990996	1.00[EUR][1000 genomes]
rs16916938	1.00[EUR][1000 genomes]
rs56078107	1.00[EUR][1000 genomes]
rs56388085	1.00[EUR][1000 genomes]
rs56770571	1.00[EUR][1000 genomes]
rs57754517	1.00[EUR][1000 genomes]
rs58369514	1.00[EUR][1000 genomes]
rs60712208	1.00[EUR][1000 genomes]
rs7012479	1.00[EUR][1000 genomes]
rs7012627	1.00[EUR][1000 genomes]
rs73695506	0.89[AMR][1000 genomes]
rs73695508	0.89[AMR][1000 genomes]
rs73697013	1.00[EUR][1000 genomes]
rs73697018	1.00[EUR][1000 genomes]
rs73697033	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95650800-95655200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:95650800-95655200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:95650800-95655200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:95651200-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:95651200-95655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:95651200-95655400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr8:95651200-95655400	Active TSS	Gastric	stomach
15	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr8:95651600-95655000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:95651600-95655200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:95651600-95655400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:95651600-95655400	Active TSS	Pancreas	Pancrea
20	chr8:95652000-95655000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr8:95652200-95655000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
22	chr8:95652200-95655000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:95652200-95655200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr8:95652200-95655600	Bivalent/Poised TSS	Small Intestine	intestine
25	chr8:95652400-95655000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:95652400-95655000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:95652400-95655200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:95652400-95655400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr8:95652600-95655000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:95652600-95655000	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr8:95652600-95655200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:95652600-95655600	Bivalent/Poised TSS	Stomach Mucosa	stomach
33	chr8:95652800-95655200	Bivalent Enhancer	Fetal Heart	heart
34	chr8:95653200-95655000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
35	chr8:95653200-95655000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr8:95653200-95655000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr8:95653200-95655400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr8:95653600-95655000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr8:95653600-95655000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:95653600-95655000	Flanking Active TSS	Lung	lung
41	chr8:95653600-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:95653600-95655200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Lung	lung
45	chr8:95653800-95655000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
46	chr8:95653800-95655000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:95653800-95655000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:95653800-95655200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:95653800-95655600	Active TSS	Esophagus	oesophagus
50	chr8:95654000-95655000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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