Variant report

Variant	rs58904954
Chromosome Location	chr8:132053442-132053443
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	POLR2A	chr8:132053393-132054926	U87	brain:	n/a	n/a
2	SUZ12	chr8:132051793-132054672	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr8:132053313-132054849	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr8:132053359-132055000	U87	brain:	n/a	n/a
5	E2F6	chr8:132053273-132055223	H1-hESC	embryonic stem cell:	n/a	chr8:132054708-132054717 chr8:132054437-132054444 chr8:132054437-132054444 chr8:132053843-132053854 chr8:132054436-132054445 chr8:132054710-132054719 chr8:132054437-132054444 chr8:132054436-132054448
6	POLR2A	chr8:132053419-132054871	U87	brain:	n/a	n/a
7	POLR2A	chr8:132053359-132055006	U87	brain:	n/a	n/a
8	MAX	chr8:132053401-132054866	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:132052108-132055023	H1-neurons	neurons:	n/a	n/a
10	CTBP2	chr8:132051622-132053492	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr8:132053367-132055007	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr8:132051630-132054885	H1-hESC	embryonic stem cell:	n/a	chr8:132054734-132054747 chr8:132053052-132053063
13	MAX	chr8:132051530-132054915	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ADCY8	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11995918	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676386	0.89[ASN][1000 genomes]
rs1411177	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1411184	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1411185	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904400	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470881	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73350436	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73350478	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761471	chr8:131963290-132281905	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891449	chr8:132011279-132128690	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132050200-132055600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr8:132050600-132055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:132051000-132054800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:132051000-132054800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
5	chr8:132051000-132055000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:132051000-132055000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr8:132051200-132053600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
8	chr8:132051200-132054600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:132051200-132054800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:132051200-132054800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:132051200-132055000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr8:132051200-132055000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
13	chr8:132051400-132054400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr8:132051600-132054000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:132051600-132054400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:132051600-132054400	Enhancers	Pancreas	Pancrea
17	chr8:132051600-132055000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:132051800-132053600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr8:132051800-132054200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr8:132051800-132055000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr8:132052000-132053600	Bivalent Enhancer	Liver	Liver
22	chr8:132052000-132053800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:132052000-132054400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:132052000-132055000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr8:132052000-132055200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:132052000-132055200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:132052000-132055200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr8:132052200-132054200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:132052200-132054800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:132052200-132055000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:132052200-132055000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
32	chr8:132052200-132055000	Active TSS	Right Atrium	heart
33	chr8:132052400-132054200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
34	chr8:132052400-132054200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:132052400-132054600	Bivalent Enhancer	Spleen	Spleen
36	chr8:132052400-132054800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:132052400-132055000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:132052600-132053800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:132052600-132054200	Bivalent Enhancer	Fetal Stomach	stomach
40	chr8:132052600-132054800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr8:132052800-132053600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr8:132052800-132053600	Bivalent Enhancer	NH-A	brain
43	chr8:132052800-132054400	Bivalent Enhancer	Esophagus	oesophagus
44	chr8:132052800-132055000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr8:132053000-132053600	Enhancers	Gastric	stomach
46	chr8:132053000-132053600	Bivalent Enhancer	HMEC	breast
47	chr8:132053000-132055000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:132053200-132053600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:132053200-132053600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:132053200-132054000	Bivalent Enhancer	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links