Variant report

Variant	rs72665109
Chromosome Location	chr8:61146817-61146818
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	E2F4	chr8:61146507-61146864	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr8:61145142-61146870	K562	blood:	n/a	chr8:61145947-61145954

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61145523..61146919-chr8:61308664..61310037,8	MCF-7	breast:
2	chr8:61142783..61148206-chr8:61191539..61194824,4	K562	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17739367	0.83[AMR][1000 genomes]
rs7013855	0.85[EUR][1000 genomes]
rs72663291	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72663296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72663298	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72663302	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72665103	0.85[EUR][1000 genomes]
rs7462276	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61105800-61149400	Weak transcription	Gastric	stomach
2	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
3	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:61129000-61149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:61138400-61147200	Weak transcription	Right Atrium	heart
6	chr8:61138400-61150400	Weak transcription	A549	lung
7	chr8:61139400-61149600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:61142400-61151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:61142600-61151000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:61143400-61149400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:61144200-61151600	Enhancers	Fetal Intestine Large	intestine
12	chr8:61145200-61149600	Genic enhancers	K562	blood
13	chr8:61145600-61148600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:61145800-61149600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:61146000-61147800	Enhancers	Left Ventricle	heart
16	chr8:61146200-61147400	Weak transcription	Right Ventricle	heart
17	chr8:61146200-61148600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:61146200-61150000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:61146400-61147400	Weak transcription	Fetal Heart	heart
20	chr8:61146800-61150000	Weak transcription	HUVEC	blood vessel

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