Variant report

Variant	rs12033739
Chromosome Location	chr1:225969205-225969206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:
2	chr1:225966963..225971678-chr1:225973611..225976928,7	K562	blood:
3	chr1:225615356..225617168-chr1:225967552..225969284,2	K562	blood:
4	chr1:225963461..225967975-chr1:225968057..225975345,14	MCF-7	breast:
5	chr1:225967558..225969741-chr1:225995095..225998302,3	MCF-7	breast:
6	chr1:225968570..225970564-chr1:226082071..226083838,2	K562	blood:
7	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
8	chr1:225955657..225958331-chr1:225968298..225970381,2	K562	blood:
9	chr1:225965000..225971731-chr1:226051573..226055609,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143819	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11583073	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11583078	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11583940	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11584433	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11589896	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12031296	0.92[AFR][1000 genomes]
rs12033707	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12045518	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12047698	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12735768	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12757406	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17571004	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56866192	0.89[AFR][1000 genomes]
rs61849057	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71646745	0.81[AFR][1000 genomes]
rs71646746	0.81[AFR][1000 genomes]
rs7530073	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225966200-225973400	Weak transcription	Esophagus	oesophagus
2	chr1:225966800-225969800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:225966800-225970400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:225966800-225972600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:225967000-225970400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:225967000-225971800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:225967000-225972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:225967000-225973600	Weak transcription	HSMMtube	muscle
10	chr1:225967200-225969600	Enhancers	Liver	Liver
11	chr1:225967200-225969800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:225967200-225970000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:225967200-225970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:225967200-225970600	Weak transcription	HSMM	muscle
15	chr1:225967200-225970800	Enhancers	Adipose Nuclei	Adipose
16	chr1:225967200-225971800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:225967200-225972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:225967200-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:225967400-225971800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:225967400-225971800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:225967600-225970600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:225967600-225971000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:225967600-225971200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:225967600-225973600	Weak transcription	Fetal Kidney	kidney
26	chr1:225967800-225969400	Weak transcription	NHLF	lung
27	chr1:225967800-225969600	Enhancers	Brain Anterior Caudate	brain
28	chr1:225967800-225969800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:225967800-225969800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:225967800-225970200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:225967800-225970600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:225967800-225970600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:225967800-225970800	Genic enhancers	K562	blood
34	chr1:225967800-225971200	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:225967800-225971400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:225967800-225971600	Genic enhancers	Fetal Lung	lung
37	chr1:225967800-225971800	Enhancers	Brain Angular Gyrus	brain
38	chr1:225967800-225980200	Weak transcription	Stomach Mucosa	stomach
39	chr1:225968000-225969400	Weak transcription	Fetal Heart	heart
40	chr1:225968000-225969400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr1:225968000-225969400	Enhancers	Small Intestine	intestine
42	chr1:225968000-225970200	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:225968000-225970600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:225968200-225969800	Weak transcription	Fetal Stomach	stomach
45	chr1:225968200-225969800	Strong transcription	Fetal Thymus	thymus
46	chr1:225968200-225970000	Weak transcription	Spleen	Spleen
47	chr1:225968200-225970200	Active TSS	GM12878-XiMat	blood
48	chr1:225968200-225970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:225968200-225970600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
50	chr1:225968200-225970800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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