Variant report

Variant	rs62482222
Chromosome Location	chr7:100197866-100197867
allele	A/G
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:5)
LncRNA
region (count:0)
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	MAX	chr7:100197864-100198220	NB4	blood:	n/a	n/a
2	MYC	chr7:100197850-100198271	NB4	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100197224..100199965-chr7:100201704..100203215,2	K562	blood:
2	chr3:190101997..190102807-chr7:100197746..100198248,2	MCF-7	breast:
3	chr7:100197623..100199765-chr7:100271957..100274222,3	MCF-7	breast:
4	chr7:100196390..100199105-chr7:100274620..100277245,2	K562	blood:
5	chr7:100195854..100198073-chr7:100486279..100488059,2	K562	blood:

No data

Variant related genes	Relation type
PCOLCE	TF binding region
ENSG00000172354	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106333	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11970888	1.00[AFR][1000 genomes]
rs3197597	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62482222	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100188000-100198800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:100188600-100199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:100188600-100199800	Weak transcription	Right Atrium	heart
4	chr7:100188600-100201400	Weak transcription	Spleen	Spleen
5	chr7:100189200-100199000	Weak transcription	Fetal Lung	lung
6	chr7:100192800-100199000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:100193400-100199000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:100193600-100199200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:100194200-100198000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:100194800-100199000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:100194800-100199800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:100194800-100201000	Weak transcription	Fetal Heart	heart
13	chr7:100196200-100199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:100196400-100198000	Weak transcription	Osteobl	bone
15	chr7:100196400-100199000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:100196400-100201000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:100196600-100198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:100196600-100200400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:100196600-100200800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:100197200-100198000	Strong transcription	Fetal Stomach	stomach
21	chr7:100197200-100198200	Enhancers	Fetal Intestine Large	intestine
22	chr7:100197200-100198200	Enhancers	Fetal Intestine Small	intestine
23	chr7:100197400-100198000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:100197400-100198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:100197400-100198400	Flanking Active TSS	HepG2	liver
26	chr7:100197400-100198800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:100197400-100199600	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:100197600-100198000	Enhancers	Placenta	Placenta
29	chr7:100197600-100198000	Enhancers	Ovary	ovary
30	chr7:100197600-100198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:100197600-100198400	Enhancers	Right Ventricle	heart
32	chr7:100197600-100198800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:100197600-100198800	Enhancers	Adipose Nuclei	Adipose
34	chr7:100197600-100199600	Enhancers	Fetal Muscle Leg	muscle
35	chr7:100197600-100200000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:100197800-100198000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:100197800-100198200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:100197800-100198600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:100197800-100199200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:100197800-100200000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:100197800-100200000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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