Variant report

Variant	rs73680349
Chromosome Location	chr8:54791487-54791488
allele	A/C
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	REST	chr8:54789500-54791579	HL-60	blood:	n/a	chr8:54790562-54790575 chr8:54791160-54791170 chr8:54790555-54790569 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790559-54790572 chr8:54790128-54790146
2	REST	chr8:54789965-54791529	PFSK-1	brain:	n/a	chr8:54790562-54790575 chr8:54791160-54791170 chr8:54790555-54790569 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790555-54790575 chr8:54790559-54790572 chr8:54790128-54790146
3	SIN3A	chr8:54791311-54795214	H1-hESC	embryonic stem cell:	n/a	chr8:54792399-54792409 chr8:54795023-54795036 chr8:54793768-54793779 chr8:54794395-54794408
4	CTCF	chr8:54791400-54791550	GM12872	blood:	n/a	n/a
5	EBF1	chr8:54791278-54791697	GM12878	blood:	n/a	chr8:54791506-54791517
6	E2F6	chr8:54791374-54794094	H1-hESC	embryonic stem cell:	n/a	chr8:54793415-54793424 chr8:54792932-54792944 chr8:54793498-54793505 chr8:54793415-54793427
7	SUZ12	chr8:54788529-54792712	NT2-D1	testis:	n/a	n/a
8	CTBP2	chr8:54791270-54792893	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:54791461-54791623	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr8:54791470-54791686	GM12878	blood:	n/a	n/a
11	EBF1	chr8:54791283-54791734	GM12878	blood:	n/a	chr8:54791506-54791517
12	SUZ12	chr8:54791087-54792310	H1-hESC	embryonic stem cell:	n/a	n/a
13	EBF1	chr8:54791310-54791757	GM12878	blood:	n/a	chr8:54791506-54791517

No.	Distal block	Cell Line	Cell type
1	chr8:54789285..54792223-chr8:54932900..54934940,2	K562	blood:
2	chr8:54785381..54788323-chr8:54789364..54792317,2	MCF-7	breast:
3	chr8:54788748..54791564-chr8:54792392..54794472,3	K562	blood:
4	chr8:54783474..54786409-chr8:54789438..54792325,2	K562	blood:

Variant related genes	Relation type
RGS20	TF binding region
ENSG00000272457	TF binding region
ENSG00000147509	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11990964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57594047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57924266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58446058	0.88[AFR][1000 genomes]
rs59128603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296248	1.00[AMR][1000 genomes]
rs60437052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60515635	1.00[AMR][1000 genomes]
rs6998009	0.83[AFR][1000 genomes]
rs73680309	0.82[AFR][1000 genomes]
rs73680313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680345	1.00[EUR][1000 genomes]
rs73680347	1.00[EUR][1000 genomes]
rs73680348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682538	0.83[AFR][1000 genomes]
rs73682553	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54788600-54791600	Weak transcription	A549	lung
2	chr8:54789200-54792400	Enhancers	Lung	lung
3	chr8:54789400-54792000	Bivalent Enhancer	Fetal Stomach	stomach
4	chr8:54789400-54792400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr8:54789400-54792400	Enhancers	Spleen	Spleen
6	chr8:54789600-54792200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr8:54789600-54792200	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr8:54789600-54792200	Bivalent Enhancer	Placenta	Placenta
9	chr8:54790000-54792000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:54790000-54792200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
11	chr8:54790200-54791600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr8:54790200-54791800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:54790200-54792400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr8:54790400-54791800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:54790400-54792200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr8:54790400-54792200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr8:54790600-54791600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:54790600-54791600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr8:54790600-54791600	Bivalent/Poised TSS	NHDF-Ad	bronchial
20	chr8:54790600-54791800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:54790600-54791800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:54790600-54791800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:54790600-54791800	Weak transcription	Gastric	stomach
24	chr8:54790600-54792000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:54790600-54792200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr8:54790600-54792200	Bivalent Enhancer	Liver	Liver
27	chr8:54790800-54791600	Bivalent Enhancer	Fetal Brain Female	brain
28	chr8:54790800-54791800	Enhancers	Right Atrium	heart
29	chr8:54790800-54791800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
30	chr8:54790800-54791800	Bivalent Enhancer	HUVEC	blood vessel
31	chr8:54790800-54792000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:54790800-54792000	Bivalent Enhancer	Brain Hippocampus Middle	brain
33	chr8:54790800-54792000	Enhancers	Ovary	ovary
34	chr8:54790800-54792000	Weak transcription	Pancreas	Pancrea
35	chr8:54790800-54792000	Enhancers	Right Ventricle	heart
36	chr8:54790800-54792000	Weak transcription	HMEC	breast
37	chr8:54790800-54792200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:54790800-54792600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:54791000-54791800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr8:54791000-54791800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr8:54791000-54791800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr8:54791000-54792000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:54791000-54792200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:54791200-54791600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:54791200-54791800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr8:54791200-54791800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
47	chr8:54791200-54792200	Bivalent/Poised TSS	HepG2	liver
48	chr8:54791200-54793000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:54791200-54795600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:54791400-54791600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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