Variant report

Variant	rs57079229
Chromosome Location	chr22:34318741-34318742
allele	A/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	POLR2A	chr22:34316614-34318820	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr22:34316667-34318772	SK-N-SH	brain:	n/a	n/a
3	SIN3A	chr22:34316642-34319989	H1-hESC	embryonic stem cell:	n/a	chr22:34318427-34318436 chr22:34316794-34316805 chr22:34317994-34318003
4	REST	chr22:34316631-34318913	H1-neurons	neurons:	n/a	chr22:34318453-34318460 chr22:34317994-34318004 chr22:34317418-34317432
5	MAZ	chr22:34318456-34319086	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:34317623-34318977	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr22:34318320-34318840	H1-neurons	neurons:	n/a	n/a
8	MXI1	chr22:34318352-34318761	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr22:34317909-34318775	H1-hESC	embryonic stem cell:	n/a	chr22:34318413-34318427
10	CHD1	chr22:34318498-34318936	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr22:34315936-34319280	IMR90	lung:	n/a	chr22:34318134-34318144

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-8	chr22:34318410-34318754	ENSG00000273082.1

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11089639	0.84[EUR][1000 genomes]
rs5749697	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5754765	0.80[ASN][1000 genomes]
rs5754769	0.84[EUR][1000 genomes]
rs60767663	0.84[EUR][1000 genomes]
rs7284214	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7290012	0.84[EUR][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	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3513361	chr22:34315502-34318800	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3513362	chr22:34315502-34318800	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34313600-34319000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34313800-34319200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr22:34314000-34319000	Active TSS	Right Atrium	heart
4	chr22:34314200-34319000	Active TSS	Left Ventricle	heart
5	chr22:34315000-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:34315000-34319200	Active TSS	Psoas Muscle	Psoas
7	chr22:34315200-34318800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:34315200-34318800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr22:34315200-34318800	Active TSS	NHLF	lung
10	chr22:34315200-34319000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:34315200-34319200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr22:34315200-34319200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:34315200-34319400	Active TSS	Right Ventricle	heart
14	chr22:34315400-34319000	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr22:34315400-34319200	Active TSS	Aorta	Aorta
16	chr22:34315600-34318800	Active TSS	Colonic Mucosa	Colon
17	chr22:34315600-34319000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:34315600-34319200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr22:34315600-34319200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr22:34315800-34318800	Active TSS	Pancreas	Pancrea
21	chr22:34315800-34319200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr22:34315800-34319200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:34315800-34319400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:34316000-34318800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr22:34316000-34318800	Active TSS	Stomach Smooth Muscle	stomach
26	chr22:34316000-34319000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr22:34316000-34320000	Active TSS	Ovary	ovary
28	chr22:34316200-34319000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr22:34316200-34319200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:34316400-34319200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:34317200-34318800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:34317200-34318800	Active TSS	Brain Anterior Caudate	brain
33	chr22:34317200-34318800	Active TSS	Brain Cingulate Gyrus	brain
34	chr22:34317200-34318800	Active TSS	Brain Hippocampus Middle	brain
35	chr22:34317200-34318800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:34317200-34318800	Active TSS	Brain Substantia Nigra	brain
37	chr22:34317200-34318800	Active TSS	Colon Smooth Muscle	Colon
38	chr22:34317200-34318800	Active TSS	Fetal Intestine Large	intestine
39	chr22:34317200-34318800	Active TSS	Fetal Intestine Small	intestine
40	chr22:34317200-34318800	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr22:34317200-34318800	Active TSS	Fetal Stomach	stomach
42	chr22:34317200-34318800	Active TSS	Rectal Smooth Muscle	rectum
43	chr22:34317200-34318800	Active TSS	Stomach Mucosa	stomach
44	chr22:34317200-34318800	Active TSS	GM12878-XiMat	blood
45	chr22:34317200-34319000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr22:34317200-34319000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr22:34317200-34319000	Active TSS	Brain Angular Gyrus	brain
48	chr22:34317200-34319000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr22:34317200-34319000	Active TSS	Fetal Kidney	kidney
50	chr22:34317200-34319200	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links