Variant report

Variant	rs6958696
Chromosome Location	chr7:100237597-100237598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100224003..100228660-chr7:100236463..100240188,8	K562	blood:
2	chr7:100236888..100240057-chr7:100302450..100306619,5	K562	blood:
3	chr7:100207856..100214217-chr7:100235772..100240956,9	K562	blood:
4	chr7:100235870..100241765-chr7:100269603..100274523,10	K562	blood:
5	chr7:100207856..100215304-chr7:100235701..100242038,10	K562	blood:
6	chr7:100025315..100028678-chr7:100237515..100241293,6	K562	blood:
7	chr7:100223071..100228603-chr7:100236890..100242224,6	K562	blood:
8	chr7:100200627..100204986-chr7:100237375..100241909,8	K562	blood:
9	chr7:100237538..100239749-chr7:100251463..100254292,3	K562	blood:
10	chr7:100235439..100238054-chr7:100270243..100272428,2	MCF-7	breast:
11	chr7:100234354..100241214-chr7:100269812..100274154,10	K562	blood:
12	chr7:100229346..100236063-chr7:100236439..100240927,7	K562	blood:
13	chr7:100236529..100239648-chr7:100253974..100255733,3	K562	blood:
14	chr7:100235578..100238290-chr7:100275939..100277984,2	K562	blood:
15	chr7:100183091..100185790-chr7:100237185..100241212,3	K562	blood:
16	chr7:100200263..100204018-chr7:100237004..100241425,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106336	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10487157	0.84[AMR][1000 genomes]
rs10953299	0.94[EUR][1000 genomes]
rs11764045	0.84[AMR][1000 genomes]
rs11766643	0.92[AMR][1000 genomes]
rs11767547	0.94[AMR][1000 genomes]
rs11770389	0.92[AMR][1000 genomes]
rs11770534	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11772667	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11983745	0.94[AMR][1000 genomes]
rs12532878	0.83[AMR][1000 genomes]
rs2075674	0.94[AMR][1000 genomes]
rs2231172	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28584500	0.81[AMR][1000 genomes]
rs41303510	0.92[AMR][1000 genomes]
rs4729601	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62482238	0.84[AMR][1000 genomes]
rs62482239	0.80[AMR][1000 genomes]
rs62482242	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6952341	0.82[EUR][1000 genomes]
rs6969584	0.83[AMR][1000 genomes]
rs6969697	0.83[AMR][1000 genomes]
rs73156234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73170760	0.87[EUR][1000 genomes]
rs73407376	0.84[AMR][1000 genomes]
rs7812123	0.83[AMR][1000 genomes]
rs7812235	0.83[AMR][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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6958696	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100231200-100238400	Weak transcription	Pancreas	Pancrea
2	chr7:100231400-100240200	Weak transcription	Spleen	Spleen
3	chr7:100231400-100242400	Weak transcription	Right Atrium	heart
4	chr7:100231400-100247200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:100231600-100237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:100231600-100238000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:100231800-100238200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:100232000-100237600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:100232200-100237600	Weak transcription	Hela-S3	cervix
10	chr7:100236600-100237800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:100236600-100238800	Flanking Active TSS	Liver	Liver
12	chr7:100237200-100237600	Weak transcription	HepG2	liver
13	chr7:100237400-100237800	Active TSS	K562	blood

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