Variant report

Variant	rs4548095
Chromosome Location	chr7:100226665-100226666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100226640-100226790	GM12866	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100225566..100227350-chr7:100272273..100274722,2	MCF-7	breast:
2	chr7:100209659..100211246-chr7:100224414..100227276,2	MCF-7	breast:
3	chr7:100224003..100228660-chr7:100236463..100240188,8	K562	blood:
4	chr7:100218425..100220265-chr7:100225859..100228241,2	K562	blood:
5	chr7:100224387..100228494-chr7:100301872..100304625,4	MCF-7	breast:
6	chr7:100222759..100227059-chr7:100284156..100289115,6	K562	blood:
7	chr7:100226648..100227602-chr7:100289014..100289976,5	MCF-7	breast:
8	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
9	chr7:100225248..100227067-chr7:100266197..100268794,2	K562	blood:
10	chr7:100226628..100227548-chr7:100288949..100289693,4	K562	blood:
11	chr7:100223071..100228603-chr7:100236890..100242224,6	K562	blood:
12	chr7:100208130..100210288-chr7:100223518..100226835,3	MCF-7	breast:
13	chr7:100221959..100226920-chr7:100226941..100232803,10	K562	blood:

No data

Variant related genes	Relation type
TFR2	TF binding region
ENSG00000172354	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2075672	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4729597	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7385804	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	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
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
9	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4548095	MOSPD3	cis	Skin Sun Exposed Lower leg	GTEx
rs4548095	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
2	chr7:100221600-100227200	Genic enhancers	Liver	Liver
3	chr7:100222200-100229600	Weak transcription	Hela-S3	cervix
4	chr7:100224800-100229600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:100224800-100230400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:100224800-100230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:100224800-100230400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:100224800-100230600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:100224800-100230600	Weak transcription	Gastric	stomach
10	chr7:100224800-100230600	Weak transcription	Right Atrium	heart
11	chr7:100224800-100230600	Weak transcription	Small Intestine	intestine
12	chr7:100225000-100229200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:100225000-100230400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:100225000-100230400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:100225000-100230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:100225000-100230400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:100225000-100230400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:100225000-100230400	Weak transcription	Spleen	Spleen
19	chr7:100225000-100230600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:100225000-100230600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:100225200-100226800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:100225200-100227000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:100225200-100229400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:100225200-100229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:100225200-100230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:100225200-100230400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:100225200-100230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:100225200-100230400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:100225200-100230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:100225200-100230400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:100225200-100230600	Weak transcription	Esophagus	oesophagus
32	chr7:100225200-100234200	Strong transcription	K562	blood
33	chr7:100225400-100230400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:100225400-100230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:100225400-100230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:100225600-100226800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:100225600-100227800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:100225600-100230200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:100225600-100230400	Weak transcription	Primary T cells from cord blood	blood
40	chr7:100225600-100230400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:100225600-100230400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:100225600-100230400	Weak transcription	Fetal Intestine Small	intestine
43	chr7:100225800-100227000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:100225800-100230600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:100225800-100230600	Weak transcription	GM12878-XiMat	blood
46	chr7:100226000-100226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:100226000-100230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:100226600-100227200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr7:100226600-100227200	Strong transcription	HepG2	liver

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