Variant report

Variant	rs13226381
Chromosome Location	chr7:11872365-11872366
allele	A/C
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	chr7:11870991-11872388	H1-neurons	neurons:	n/a	n/a
2	MAX	chr7:11871008-11872456	A549	lung:	n/a	n/a
3	REST	chr7:11871461-11872380	H1-neurons	neurons:	n/a	chr7:11871699-11871717
4	MXI1	chr7:11867300-11874339	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr7:11871567-11872471	A549	lung:	n/a	chr7:11872228-11872237
6	REST	chr7:11870764-11872547	H1-neurons	neurons:	n/a	chr7:11871699-11871717 chr7:11871323-11871331
7	POLR2A	chr7:11871200-11872373	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
THSD7A	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10243925	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10259477	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10282397	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2355101	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2355105	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2355107	0.81[EUR][1000 genomes]
rs2355110	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2355111	0.80[EUR][1000 genomes]
rs2355113	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2355114	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2883596	0.81[EUR][1000 genomes]
rs36083223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4721016	0.80[EUR][1000 genomes]
rs6460847	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6460850	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6460851	0.96[EUR][1000 genomes]
rs6943249	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6951563	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6964003	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6978088	0.81[EUR][1000 genomes]
rs7807946	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830905	chr7:11793513-11941594	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv606203	chr7:11870711-11915630	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv887615	chr7:11870711-11938060	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11867400-11873400	Active TSS	A549	lung
2	chr7:11870200-11872400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:11870200-11872400	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:11870400-11872400	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:11871000-11872400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:11871200-11872400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:11871200-11872400	Active TSS	Primary B cells from cord blood	blood
8	chr7:11871800-11872400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr7:11871800-11872400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:11871800-11872400	Enhancers	Fetal Heart	heart
11	chr7:11872000-11872400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:11872000-11872400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
13	chr7:11872000-11872400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:11872000-11872400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr7:11872000-11872400	Flanking Active TSS	Fetal Brain Female	brain
16	chr7:11872000-11872400	Flanking Active TSS	Fetal Lung	lung
17	chr7:11872000-11873400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:11872200-11872400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:11872200-11872400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:11872200-11872400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:11872200-11872400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr7:11872200-11872400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr7:11872200-11872400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:11872200-11872400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:11872200-11872400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:11872200-11872400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:11872200-11872400	Enhancers	Brain Angular Gyrus	brain
28	chr7:11872200-11872400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:11872200-11872400	Active TSS	Fetal Brain Male	brain
30	chr7:11872200-11872400	Flanking Active TSS	Fetal Kidney	kidney
31	chr7:11872200-11872400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr7:11872200-11872400	Enhancers	NHDF-Ad	bronchial
33	chr7:11872200-11873000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:11872200-11873200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:11872200-11873200	Weak transcription	Right Ventricle	heart
36	chr7:11872200-11873600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:11872200-11873600	Enhancers	Brain Germinal Matrix	brain
38	chr7:11872200-11873800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:11872200-11873800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:11872200-11874000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:11872200-11874000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:11872200-11875200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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