Variant report

Variant	rs11762787
Chromosome Location	chr7:100547648-100547649
allele	C/G
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	MXI1	chr7:100547541-100547740	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100486624..100489424-chr7:100545614..100548228,2	MCF-7	breast:

Variant related genes	Relation type
MUC3A	TF binding region
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10267628	0.94[ASN][1000 genomes]
rs10953308	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11768688	0.81[AMR][1000 genomes]
rs4338018	0.90[ASN][1000 genomes]
rs4355710	0.90[ASN][1000 genomes]
rs4461819	0.81[ASN][1000 genomes]
rs4729624	0.94[ASN][1000 genomes]
rs62482558	0.81[ASN][1000 genomes]
rs6465777	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6972632	0.81[ASN][1000 genomes]
rs6980219	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73163727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73163741	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778388	0.81[ASN][1000 genomes]
rs7797690	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv427795	chr7:100525848-100554827	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv437026	chr7:100533822-100610772	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11762787	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100544800-100550600	Weak transcription	Right Atrium	heart
2	chr7:100546600-100547800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:100546600-100548000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
4	chr7:100546600-100548400	Flanking Active TSS	Fetal Intestine Large	intestine
5	chr7:100546600-100549600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:100546600-100549800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:100546800-100547800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:100546800-100547800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:100546800-100547800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:100546800-100548400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:100546800-100549600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:100546800-100549800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:100547000-100547800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:100547000-100547800	Bivalent/Poised TSS	Left Ventricle	heart
15	chr7:100547000-100547800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr7:100547000-100547800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr7:100547000-100548000	Flanking Active TSS	Liver	Liver
18	chr7:100547000-100548000	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr7:100547000-100548200	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chr7:100547000-100548600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:100547200-100547800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:100547200-100547800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr7:100547200-100547800	Bivalent/Poised TSS	Fetal Thymus	thymus
24	chr7:100547200-100548000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr7:100547200-100548200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr7:100547200-100548200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
27	chr7:100547200-100548200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr7:100547200-100549800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:100547200-100550600	Weak transcription	Gastric	stomach
30	chr7:100547400-100548400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr7:100547400-100548400	Bivalent Enhancer	HepG2	liver
32	chr7:100547400-100548600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:100547600-100547800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:100547600-100547800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
35	chr7:100547600-100547800	Flanking Active TSS	Spleen	Spleen
36	chr7:100547600-100548000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:100547600-100548200	Active TSS	Stomach Mucosa	stomach

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