Variant report

Variant	rs12080725
Chromosome Location	chr1:226096167-226096168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226092037..226094037-chr1:226096145..226097918,2	K562	blood:
2	chr1:226092799..226094915-chr1:226095358..226098019,2	MCF-7	breast:
3	chr1:226084282..226085817-chr1:226093529..226096512,2	K562	blood:
4	chr1:226094730..226096408-chr1:226161772..226163850,2	K562	blood:
5	chr1:226069219..226071765-chr1:226095190..226096752,2	K562	blood:
6	chr1:226093233..226096389-chr1:226111955..226115437,4	K562	blood:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000196187	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10915886	0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap]
rs10915888	0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap]
rs12078868	0.81[LWK][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs12092868	0.89[AMR][1000 genomes]
rs12094548	0.89[AMR][1000 genomes]
rs35273824	0.81[AFR][1000 genomes]
rs35684337	0.81[AFR][1000 genomes]
rs56035614	0.89[AMR][1000 genomes]
rs74150558	0.89[AMR][1000 genomes]
rs74150559	0.89[AMR][1000 genomes]
rs74150561	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv3369235	chr1:226075748-226127738	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv535314	chr1:226087226-226128261	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
2	chr1:226084800-226098800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:226085000-226098800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:226085000-226100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:226086200-226098600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:226087000-226097400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:226087000-226098800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:226087000-226098800	Weak transcription	Right Ventricle	heart
9	chr1:226087000-226100200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:226087000-226107200	Weak transcription	Psoas Muscle	Psoas
11	chr1:226087200-226098800	Weak transcription	Spleen	Spleen
12	chr1:226087400-226098800	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:226087600-226097400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:226087600-226102000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:226087600-226103400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:226087600-226103600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226087600-226104600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr1:226087800-226096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:226087800-226097400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:226087800-226098800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:226088800-226096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:226092200-226103200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:226092400-226100400	Weak transcription	Fetal Brain Female	brain
24	chr1:226092600-226099000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:226093000-226097200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:226094200-226096600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:226094400-226097000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr1:226094400-226097200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:226094400-226097200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:226094400-226097200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:226094400-226098800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:226094600-226097200	Weak transcription	Primary T cells from cord blood	blood
33	chr1:226094600-226097800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:226094600-226098400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:226095000-226096400	Enhancers	Gastric	stomach
36	chr1:226095200-226097200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:226095200-226098800	Weak transcription	Fetal Stomach	stomach
38	chr1:226095400-226097200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:226096000-226096400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:226096000-226096400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:226096000-226096400	Enhancers	Pancreas	Pancrea
42	chr1:226096000-226096800	Enhancers	HepG2	liver
43	chr1:226096000-226099400	Enhancers	Stomach Mucosa	stomach

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