Variant report

Variant	rs7552813
Chromosome Location	chr1:212735729-212735730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
2	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000264590	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119964	0.88[ASN][1000 genomes]
rs11119967	0.88[ASN][1000 genomes]
rs4543871	0.82[EUR][1000 genomes]
rs4951610	0.88[ASN][1000 genomes]
rs4951617	0.97[EUR][1000 genomes]
rs55751820	0.88[ASN][1000 genomes]
rs56671266	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57574244	0.84[ASN][1000 genomes]
rs57825758	0.91[ASN][1000 genomes]
rs58569007	0.88[ASN][1000 genomes]
rs59394201	0.91[ASN][1000 genomes]
rs66883774	0.91[ASN][1000 genomes]
rs6692374	0.81[ASN][1000 genomes]
rs67693441	0.88[ASN][1000 genomes]
rs67992241	0.91[ASN][1000 genomes]
rs72756308	0.84[ASN][1000 genomes]
rs73075860	0.91[ASN][1000 genomes]
rs7519968	0.88[ASN][1000 genomes]
rs7546027	0.88[ASN][1000 genomes]
rs873574	0.84[ASN][1000 genomes]
rs953777	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212732400-212736000	Enhancers	Placenta	Placenta
2	chr1:212732800-212738000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212732800-212739600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:212732800-212739600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:212732800-212739800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:212732800-212739800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:212732800-212739800	Weak transcription	Stomach Mucosa	stomach
8	chr1:212732800-212740000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:212733000-212739600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:212733000-212739600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:212733000-212739800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:212733000-212739800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:212733000-212740600	Weak transcription	Fetal Heart	heart
14	chr1:212733200-212739600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:212734200-212736200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:212734400-212740000	Weak transcription	Aorta	Aorta
17	chr1:212734600-212735800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:212734800-212736000	Enhancers	Lung	lung
19	chr1:212735000-212739800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:212735200-212736200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:212735200-212738800	Weak transcription	NHLF	lung
22	chr1:212735200-212739800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:212735200-212739800	Weak transcription	Left Ventricle	heart
24	chr1:212735200-212740000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:212735200-212740000	Weak transcription	Right Atrium	heart
26	chr1:212735400-212738400	Weak transcription	HSMMtube	muscle
27	chr1:212735400-212740000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:212735600-212739200	Weak transcription	HUVEC	blood vessel
29	chr1:212735600-212739600	Weak transcription	HSMM	muscle
30	chr1:212735600-212739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:212735600-212739800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:212735600-212739800	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links