Variant report

Variant	rs34433664
Chromosome Location	chr1:222882949-222882950
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	ELF1	chr1:222882883-222883517	K562	blood:	n/a	n/a
2	CUX1	chr1:222882938-222883943	K562	blood:	n/a	n/a
3	STAT3	chr1:222882921-222883159	MCF10A-Er-Src	breast:	n/a	chr1:222883057-222883068
4	NR2F2	chr1:222882792-222883970	K562	blood:	n/a	n/a
5	CEBPB	chr1:222882924-222883473	K562	blood:	n/a	n/a
6	TEAD4	chr1:222882801-222883853	K562	blood:	n/a	n/a
7	CCNT2	chr1:222882948-222883484	K562	blood:	n/a	n/a
8	GATA1	chr1:222882911-222883703	PBDE	blood:	n/a	chr1:222883269-222883277
9	CBX3	chr1:222882896-222883746	K562	blood:	n/a	n/a
10	TEAD4	chr1:222882877-222883664	K562	blood:	n/a	n/a
11	CEBPD	chr1:222882934-222883633	K562	blood:	n/a	n/a
12	IRF1	chr1:222882941-222883439	K562	blood:	n/a	n/a
13	ELK1	chr1:222882902-222883006	K562	blood:	n/a	n/a
14	GATA1	chr1:222882747-222884443	K562	blood:	n/a	chr1:222883269-222883277 chr1:222883982-222883991 chr1:222883978-222883994
15	BACH1	chr1:222882917-222883609	K562	blood:	n/a	n/a
16	PML	chr1:222882836-222883531	K562	blood:	n/a	n/a
17	TAL1	chr1:222882943-222883713	K562	blood:	n/a	n/a
18	CEBPB	chr1:222882872-222883558	K562	blood:	n/a	n/a

Variant related genes	Relation type
BROX	TF binding region
RN7SL276P	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11485123	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12063226	0.94[EUR][1000 genomes]
rs1391557	0.88[EUR][1000 genomes]
rs1391558	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498382	0.88[EUR][1000 genomes]
rs17011686	0.91[ASN][1000 genomes]
rs17163450	0.96[ASN][1000 genomes]
rs17163468	0.96[ASN][1000 genomes]
rs2030076	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2088514	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2133188	0.88[EUR][1000 genomes]
rs2378604	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936020	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936023	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936049	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2936051	0.83[EUR][1000 genomes]
rs2936052	0.83[EUR][1000 genomes]
rs2936054	0.82[EUR][1000 genomes]
rs3002129	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3002146	0.88[EUR][1000 genomes]
rs3002148	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008614	0.82[EUR][1000 genomes]
rs3008615	0.82[EUR][1000 genomes]
rs3008616	0.82[EUR][1000 genomes]
rs3008618	0.83[EUR][1000 genomes]
rs3008622	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3008625	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008629	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008637	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35507977	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3811465	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61824336	0.87[AFR][1000 genomes]
rs61827168	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
4	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
5	chr1:222841200-222883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:222841400-222883200	Weak transcription	Fetal Heart	heart
7	chr1:222845000-222884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:222849400-222883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:222852400-222883800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:222855200-222884600	Weak transcription	Pancreas	Pancrea
11	chr1:222855600-222883800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:222860000-222884600	Weak transcription	Left Ventricle	heart
13	chr1:222860200-222883000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:222860200-222883000	Weak transcription	Hela-S3	cervix
15	chr1:222860200-222883200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:222860200-222883600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:222860200-222883800	Weak transcription	Fetal Kidney	kidney
18	chr1:222860200-222884000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:222860200-222884200	Weak transcription	Brain Substantia Nigra	brain
20	chr1:222860200-222884400	Weak transcription	Placenta	Placenta
21	chr1:222860200-222884600	Weak transcription	Aorta	Aorta
22	chr1:222860200-222884600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:222860200-222884600	Weak transcription	Gastric	stomach
24	chr1:222860200-222884600	Weak transcription	Lung	lung
25	chr1:222860600-222884200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:222861000-222885000	Weak transcription	Spleen	Spleen
27	chr1:222866600-222883000	Weak transcription	Fetal Brain Male	brain
28	chr1:222866800-222883800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:222869400-222883200	Weak transcription	GM12878-XiMat	blood
30	chr1:222873600-222883200	Weak transcription	Brain Germinal Matrix	brain
31	chr1:222873800-222883000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:222873800-222883200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:222873800-222884600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:222874000-222883400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:222874000-222884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:222874600-222883600	Weak transcription	Fetal Stomach	stomach
37	chr1:222874800-222883600	Weak transcription	Thymus	Thymus
38	chr1:222875200-222883200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:222876200-222883000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:222876200-222883000	Weak transcription	Adipose Nuclei	Adipose
41	chr1:222876200-222883000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:222876200-222883200	Weak transcription	Stomach Mucosa	stomach
43	chr1:222876200-222883400	Weak transcription	Liver	Liver
44	chr1:222876200-222883600	Weak transcription	Fetal Intestine Large	intestine
45	chr1:222876200-222883800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:222876200-222884000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:222876200-222884200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:222876200-222884400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:222876400-222883000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:222876400-222883000	Weak transcription	HUVEC	blood vessel

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