Variant report

Variant	rs58330617
Chromosome Location	chr8:90768642-90768643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr8:90768350-90768655	K562	blood:	n/a	n/a
2	EGR1	chr8:90768286-90768689	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90766999..90771986-chr8:90912842..90916534,13	MCF-7	breast:
2	chr8:90767168..90772413-chr8:90911120..90917480,11	K562	blood:
3	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
4	chr8:90733158..90736113-chr8:90768378..90769934,2	K562	blood:
5	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
6	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
7	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
8	chr8:90768498..90770140-chr8:90791646..90793949,2	MCF-7	breast:
9	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBN-1	chr8:90768463-90768838	ENSG00000251136

No data

Variant related genes	Relation type
RIPK2	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10504882	1.00[ASN][1000 genomes]
rs10504883	0.90[ASN][1000 genomes]
rs16900025	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16900480	1.00[ASN][1000 genomes]
rs16900484	1.00[ASN][1000 genomes]
rs16900581	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs16900589	0.90[ASN][1000 genomes]
rs16900592	0.90[ASN][1000 genomes]
rs16900617	0.90[ASN][1000 genomes]
rs16900677	0.90[ASN][1000 genomes]
rs16900711	0.90[ASN][1000 genomes]
rs2293807	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55697113	0.90[ASN][1000 genomes]
rs55702923	1.00[ASN][1000 genomes]
rs55881928	0.90[ASN][1000 genomes]
rs55914077	1.00[ASN][1000 genomes]
rs55945927	0.95[ASN][1000 genomes]
rs56118532	1.00[ASN][1000 genomes]
rs56275901	0.97[ASN][1000 genomes]
rs56302550	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56716125	1.00[ASN][1000 genomes]
rs56793332	1.00[ASN][1000 genomes]
rs57701764	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58972679	1.00[ASN][1000 genomes]
rs59312383	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59581432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59678171	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59924471	0.90[ASN][1000 genomes]
rs59941801	1.00[ASN][1000 genomes]
rs59988473	1.00[ASN][1000 genomes]
rs60183011	1.00[ASN][1000 genomes]
rs60327583	0.87[ASN][1000 genomes]
rs60651842	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60691618	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60772522	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60959735	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61017576	0.90[ASN][1000 genomes]
rs61044501	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61258433	0.90[ASN][1000 genomes]
rs61450435	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61662505	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998044	1.00[ASN][1000 genomes]
rs7010806	1.00[ASN][1000 genomes]
rs73694459	0.97[ASN][1000 genomes]
rs73694461	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73694462	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73694463	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73694485	0.95[ASN][1000 genomes]
rs73694486	0.95[ASN][1000 genomes]
rs73694487	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694488	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694490	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694492	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694493	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73694496	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7817339	0.97[ASN][1000 genomes]
rs7829418	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839470	0.97[ASN][1000 genomes]
rs7839478	0.97[ASN][1000 genomes]
rs9721216	0.93[ASN][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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90750000-90769000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:90756400-90769200	Weak transcription	Pancreas	Pancrea
3	chr8:90758400-90769000	Weak transcription	Ovary	ovary
4	chr8:90760600-90768800	Weak transcription	Fetal Kidney	kidney
5	chr8:90760600-90769000	Weak transcription	HSMM	muscle
6	chr8:90762600-90768800	Weak transcription	Aorta	Aorta
7	chr8:90762600-90769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:90763600-90768800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:90765400-90771600	Active TSS	GM12878-XiMat	blood
10	chr8:90766200-90772400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:90766400-90771400	Active TSS	K562	blood
12	chr8:90766600-90771200	Active TSS	NHLF	lung
13	chr8:90766800-90769000	Weak transcription	Stomach Mucosa	stomach
14	chr8:90766800-90771800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:90767000-90771200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr8:90767400-90768800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:90767400-90768800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:90767400-90768800	Enhancers	Fetal Heart	heart
19	chr8:90767400-90768800	Enhancers	NHEK	skin
20	chr8:90767400-90769200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:90767400-90771200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:90767600-90768800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr8:90767600-90768800	Enhancers	Colon Smooth Muscle	Colon
24	chr8:90767600-90771200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:90767600-90771200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:90767800-90768800	Enhancers	Fetal Lung	lung
27	chr8:90767800-90768800	Enhancers	HepG2	liver
28	chr8:90767800-90768800	Enhancers	Osteobl	bone
29	chr8:90767800-90769000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:90767800-90769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:90768000-90768800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:90768000-90768800	Enhancers	Liver	Liver
33	chr8:90768000-90768800	Enhancers	Brain Anterior Caudate	brain
34	chr8:90768000-90768800	Enhancers	Lung	lung
35	chr8:90768000-90768800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:90768000-90768800	Enhancers	NHDF-Ad	bronchial
37	chr8:90768000-90769000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:90768000-90769000	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:90768000-90769000	Enhancers	Brain Substantia Nigra	brain
40	chr8:90768000-90769200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr8:90768000-90771000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:90768000-90771400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:90768000-90771800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr8:90768000-90771800	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:90768200-90768800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:90768200-90768800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:90768200-90768800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:90768200-90768800	Flanking Active TSS	Placenta	Placenta
49	chr8:90768200-90769000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:90768200-90769000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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