Variant report

Variant	rs10770872
Chromosome Location	chr12:22094815-22094816
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	CTCF	chr12:22094700-22094850	AoAF	blood vessel:	n/a	n/a
2	TEAD4	chr12:22094813-22095317	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr12:22094769-22095045	K562	blood:	n/a	n/a
4	EGR1	chr12:22094795-22094971	K562	blood:	n/a	n/a
5	CTBP2	chr12:22094697-22095570	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr12:22093969-22095421	H1-hESC	embryonic stem cell:	n/a	chr12:22095117-22095126 chr12:22095391-22095400
7	KAP1	chr12:22093955-22095234	HEK293	kidney:	n/a	chr12:22094727-22094735
8	POLR2A	chr12:22093942-22094870	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CMAS-3	chr12:22094338-22097222	NONHSAT027261

Variant related genes	Relation type
ABCC9	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10841914	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1517272	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35497512	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35677639	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv470275	chr12:21938544-22126314	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22091600-22095000	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:22091600-22095600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:22091600-22095600	Active TSS	Right Atrium	heart
4	chr12:22092000-22095200	Active TSS	Right Ventricle	heart
5	chr12:22092000-22095600	Active TSS	Left Ventricle	heart
6	chr12:22092000-22095600	Active TSS	Psoas Muscle	Psoas
7	chr12:22092200-22095400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
8	chr12:22092200-22095600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr12:22092400-22095400	Active TSS	Colon Smooth Muscle	Colon
10	chr12:22092600-22095200	Active TSS	Ovary	ovary
11	chr12:22092600-22095400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr12:22092800-22095200	Active TSS	Fetal Heart	heart
13	chr12:22092800-22095200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr12:22092800-22095400	Active TSS	Aorta	Aorta
15	chr12:22092800-22095400	Bivalent/Poised TSS	NHDF-Ad	bronchial
16	chr12:22092800-22095600	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:22093000-22095200	Active TSS	Rectal Smooth Muscle	rectum
18	chr12:22093000-22095600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:22093000-22095600	Active TSS	NHLF	lung
20	chr12:22093200-22095600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:22093400-22095000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr12:22093400-22095200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr12:22093400-22095400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:22093400-22095400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:22093400-22095600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:22093600-22095000	Bivalent/Poised TSS	Fetal Kidney	kidney
27	chr12:22093600-22095200	Active TSS	Fetal Lung	lung
28	chr12:22093600-22095200	Active TSS	NH-A	brain
29	chr12:22093600-22095400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:22093600-22095600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:22093600-22095600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:22093600-22095600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:22093800-22095000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:22093800-22095000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:22093800-22095000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
36	chr12:22093800-22095200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:22093800-22095200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr12:22093800-22095200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
39	chr12:22093800-22095200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:22093800-22095200	Bivalent/Poised TSS	A549	lung
41	chr12:22093800-22095400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr12:22093800-22095400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:22093800-22095400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:22093800-22095400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:22093800-22095400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:22093800-22095400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:22093800-22095400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:22093800-22095400	Bivalent/Poised TSS	Colonic Mucosa	Colon
49	chr12:22093800-22095400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr12:22093800-22095400	Bivalent/Poised TSS	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links