Variant report

Variant	rs13227444
Chromosome Location	chr7:100206769-100206770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100204507-100206917	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
2	chr7:100205654..100208521-chr7:100423904..100425717,2	K562	blood:
3	chr7:100199287..100203860-chr7:100204915..100211773,14	MCF-7	breast:
4	chr7:100202004..100207768-chr7:100269368..100273670,5	MCF-7	breast:

Variant related genes	Relation type
MOSPD3	TF binding region
PCOLCE-AS1	TF binding region
ENSG00000146828	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000172354	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10487157	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10953298	0.82[ASN][1000 genomes]
rs11764045	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11766643	0.90[EUR][1000 genomes]
rs11767547	0.92[EUR][1000 genomes]
rs11770389	0.92[EUR][1000 genomes]
rs11983745	0.92[EUR][1000 genomes]
rs12532878	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075674	0.91[EUR][1000 genomes]
rs28584500	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41303510	0.92[EUR][1000 genomes]
rs62482237	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62482238	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62482239	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969584	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6969697	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73407376	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7457024	0.82[ASN][1000 genomes]
rs7786877	0.84[ASN][1000 genomes]
rs7812123	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7812235	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13227444	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100203200-100208800	Weak transcription	Dnd41	blood
2	chr7:100203200-100209400	Weak transcription	Fetal Lung	lung
3	chr7:100203400-100209000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:100203600-100209000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:100203600-100209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:100203600-100209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:100203600-100209200	Weak transcription	Right Atrium	heart
8	chr7:100203600-100209200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:100203600-100209400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:100203800-100208800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:100203800-100208800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:100203800-100208800	Weak transcription	Placenta	Placenta
13	chr7:100203800-100209000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr7:100203800-100209000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:100203800-100209000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:100203800-100209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:100203800-100209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:100203800-100209000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:100203800-100209000	Weak transcription	Psoas Muscle	Psoas
20	chr7:100203800-100209200	Weak transcription	Adipose Nuclei	Adipose
21	chr7:100203800-100209400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:100203800-100209400	Weak transcription	Left Ventricle	heart
23	chr7:100203800-100209800	Weak transcription	Spleen	Spleen
24	chr7:100204000-100207600	Weak transcription	Hela-S3	cervix
25	chr7:100204000-100208800	Weak transcription	Liver	Liver
26	chr7:100204000-100209000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:100204000-100209200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:100204000-100209400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:100204000-100209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:100204000-100209400	Weak transcription	Ovary	ovary
31	chr7:100204200-100209000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:100204200-100209000	Weak transcription	Pancreas	Pancrea
33	chr7:100204200-100209400	Weak transcription	Right Ventricle	heart
34	chr7:100204400-100208200	Weak transcription	K562	blood
35	chr7:100204400-100209200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:100204400-100209400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:100205200-100207600	Weak transcription	HUVEC	blood vessel
38	chr7:100205200-100209200	Weak transcription	A549	lung
39	chr7:100205200-100209200	Weak transcription	NH-A	brain
40	chr7:100205400-100209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:100205400-100209200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:100205400-100209800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:100205800-100208800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:100205800-100209200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:100205800-100209200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:100205800-100209200	Weak transcription	Fetal Intestine Small	intestine
47	chr7:100205800-100209200	Weak transcription	NHDF-Ad	bronchial
48	chr7:100206000-100209000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:100206000-100209600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:100206200-100208200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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