Variant report

Variant	rs2132368
Chromosome Location	chr1:227761404-227761405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:

Variant related genes	Relation type
ENSG00000202264	Chromatin interaction
ENSG00000181450	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1056699	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10799430	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10799439	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916171	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10916188	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916191	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1155807	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12025942	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12033000	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033610	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810680	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1923823	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2104245	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2172937	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4500311	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4653856	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426468	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6426473	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6660432	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6693054	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6703846	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7534403	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536765	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:227752000-227766800	Weak transcription	Ovary	ovary
2	chr1:227752200-227763200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
4	chr1:227752400-227763000	Weak transcription	Stomach Mucosa	stomach
5	chr1:227752400-227763800	Weak transcription	HSMMtube	muscle
6	chr1:227752400-227766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:227753600-227763000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:227754400-227783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:227756800-227762400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:227759800-227761800	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr1:227760200-227773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:227760200-227783800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:227760200-227784600	Weak transcription	Fetal Kidney	kidney
15	chr1:227760400-227765400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:227760400-227767000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:227760600-227761800	Weak transcription	Fetal Lung	lung
18	chr1:227760600-227762400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:227760800-227763000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:227760800-227766800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:227760800-227766800	Weak transcription	Esophagus	oesophagus
22	chr1:227760800-227766800	Weak transcription	Fetal Stomach	stomach
23	chr1:227760800-227766800	Weak transcription	Left Ventricle	heart
24	chr1:227760800-227766800	Weak transcription	Lung	lung
25	chr1:227760800-227766800	Weak transcription	Pancreas	Pancrea
26	chr1:227760800-227766800	Weak transcription	Right Ventricle	heart
27	chr1:227760800-227766800	Weak transcription	Spleen	Spleen
28	chr1:227760800-227767000	Weak transcription	Gastric	stomach
29	chr1:227760800-227767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:227760800-227767200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:227760800-227772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:227761000-227767000	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links