Variant report

Variant	rs12671122
Chromosome Location	chr7:26369285-26369286
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:25933522..25935904-chr7:26366723..26369511,2	K562	blood:
2	chr7:26238829..26241871-chr7:26366847..26369878,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12672396	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12674076	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12700723	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.89[ASN][1000 genomes]
rs13227489	0.90[ASN][1000 genomes]
rs13227726	0.82[ASN][1000 genomes]
rs13227727	0.83[ASN][1000 genomes]
rs13239699	0.85[TSI][hapmap]
rs13242213	0.82[JPT][hapmap]
rs2014728	0.81[JPT][hapmap]
rs35073600	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6943616	0.82[EUR][1000 genomes]
rs7809638	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2761313	chr7:26340970-26389772	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26335200-26386400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:26345600-26386200	Weak transcription	Thymus	Thymus
3	chr7:26345800-26375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:26346000-26373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:26359200-26369400	Weak transcription	K562	blood
6	chr7:26359200-26370200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:26361000-26374000	Weak transcription	Fetal Thymus	thymus
8	chr7:26361800-26369600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:26361800-26370800	Weak transcription	Primary T cells from cord blood	blood
10	chr7:26361800-26385400	Weak transcription	Pancreas	Pancrea
11	chr7:26367600-26371200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:26367600-26378800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:26368000-26369400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:26368000-26370400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:26368000-26370400	Enhancers	Spleen	Spleen
16	chr7:26368200-26370200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:26368200-26370400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:26368400-26369400	Genic enhancers	HepG2	liver
19	chr7:26368400-26370000	Enhancers	Liver	Liver
20	chr7:26368600-26369400	Enhancers	Brain Angular Gyrus	brain
21	chr7:26368600-26369800	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:26368600-26370400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:26368600-26374600	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:26368600-26377600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:26368800-26370600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr7:26368800-26371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:26368800-26374400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:26368800-26405000	Weak transcription	Placenta	Placenta
29	chr7:26369000-26370000	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:26369200-26370000	Enhancers	Brain Anterior Caudate	brain

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