Variant report

Variant	rs6981112
Chromosome Location	chr8:90768362-90768363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:90768012-90768419	K562	blood:	n/a	n/a
2	MYC	chr8:90768017-90768424	K562	blood:	n/a	n/a
3	EGR1	chr8:90768350-90768655	K562	blood:	n/a	n/a
4	POLR2A	chr8:90767584-90768414	MCF10A-Er-Src	breast:	n/a	n/a
5	USF1	chr8:90768272-90768626	K562	blood:	n/a	n/a
6	ATF1	chr8:90767992-90768547	K562	blood:	n/a	n/a
7	EGR1	chr8:90768286-90768689	K562	blood:	n/a	n/a
8	TEAD4	chr8:90767937-90768363	K562	blood:	n/a	n/a
9	JUND	chr8:90767991-90768409	K562	blood:	n/a	n/a
10	CBX3	chr8:90767945-90768390	K562	blood:	n/a	n/a

No data

(count:8 , 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	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
5	chr8:90767236..90773457-chr8:90912212..90919638,16	MCF-7	breast:
6	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
7	chr8:90753685..90756450-chr8:90766720..90768459,2	MCF-7	breast:
8	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:

No data

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

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10087807	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097279	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100184	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102596	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10113478	0.82[ASN][1000 genomes]
rs10504881	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900429	1.00[EUR][1000 genomes]
rs16900627	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16900650	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16900684	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1978129	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158131	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218924	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218926	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218927	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218930	0.93[EUR][1000 genomes]
rs218931	0.93[EUR][1000 genomes]
rs218933	0.93[EUR][1000 genomes]
rs218937	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218939	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28565967	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657795	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28823689	0.82[ASN][1000 genomes]
rs56017098	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60569724	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73291423	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73293110	0.89[ASN][1000 genomes]
rs73694475	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73694484	0.82[ASN][1000 genomes]
rs7814056	1.00[EUR][1000 genomes]
rs7844627	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297727	0.89[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6981112	RP11-37B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:87 , 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	chr8:90766600-90768400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:90766600-90771200	Active TSS	NHLF	lung
14	chr8:90766800-90768400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:90766800-90769000	Weak transcription	Stomach Mucosa	stomach
16	chr8:90766800-90771800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:90767000-90771200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:90767400-90768400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr8:90767400-90768600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:90767400-90768600	Enhancers	Adipose Nuclei	Adipose
21	chr8:90767400-90768800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:90767400-90768800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:90767400-90768800	Enhancers	Fetal Heart	heart
24	chr8:90767400-90768800	Enhancers	NHEK	skin
25	chr8:90767400-90769200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:90767400-90771200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr8:90767600-90768400	Flanking Active TSS	HUVEC	blood vessel
28	chr8:90767600-90768800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:90767600-90768800	Enhancers	Colon Smooth Muscle	Colon
30	chr8:90767600-90771200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:90767600-90771200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:90767800-90768400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:90767800-90768400	Enhancers	Brain Hippocampus Middle	brain
34	chr8:90767800-90768600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:90767800-90768600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:90767800-90768800	Enhancers	Fetal Lung	lung
37	chr8:90767800-90768800	Enhancers	HepG2	liver
38	chr8:90767800-90768800	Enhancers	Osteobl	bone
39	chr8:90767800-90769000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:90767800-90769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:90768000-90768400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:90768000-90768400	Enhancers	Primary hematopoietic stem cells	blood
43	chr8:90768000-90768400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:90768000-90768400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:90768000-90768400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:90768000-90768400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:90768000-90768400	Enhancers	Spleen	Spleen
48	chr8:90768000-90768400	Enhancers	A549	lung
49	chr8:90768000-90768400	Flanking Active TSS	Hela-S3	cervix
50	chr8:90768000-90768600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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