Variant report

Variant	rs572869
Chromosome Location	chr12:118808167-118808168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
2	chr12:118765311..118767097-chr12:118807777..118809983,2	K562	blood:
3	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1699160	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2279833	0.81[ASN][1000 genomes]
rs459547	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs464227	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs514826	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs556081	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59848754	0.82[AFR][1000 genomes]
rs7307848	0.81[ASN][1000 genomes]
rs882926	0.87[AFR][1000 genomes];0.81[ASN][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118794800-118808400	Weak transcription	Small Intestine	intestine
2	chr12:118794800-118809000	Weak transcription	Lung	lung
3	chr12:118794800-118809000	Weak transcription	Pancreas	Pancrea
4	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
6	chr12:118795600-118808600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:118796200-118808200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:118797200-118808400	Weak transcription	Fetal Stomach	stomach
9	chr12:118797400-118808200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:118797400-118808400	Weak transcription	Fetal Intestine Large	intestine
11	chr12:118797600-118808200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:118797600-118808400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:118797600-118808400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:118797600-118808400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:118797600-118808400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:118797600-118808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:118797600-118808600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:118797800-118808400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:118798000-118808200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:118798000-118808400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:118798800-118808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:118799200-118808200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:118799200-118808400	Weak transcription	A549	lung
24	chr12:118799200-118808400	Weak transcription	Osteobl	bone
25	chr12:118799200-118808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:118799200-118808600	Weak transcription	NH-A	brain
27	chr12:118799200-118809000	Weak transcription	HSMM	muscle
28	chr12:118799400-118808200	Weak transcription	HMEC	breast
29	chr12:118799600-118808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:118800000-118808400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:118801800-118809000	Weak transcription	Gastric	stomach
32	chr12:118801800-118809000	Weak transcription	Left Ventricle	heart
33	chr12:118802400-118808600	Weak transcription	Brain Angular Gyrus	brain
34	chr12:118803000-118808200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:118803000-118808200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:118803000-118808800	Weak transcription	Right Ventricle	heart
37	chr12:118803200-118808600	Weak transcription	HUVEC	blood vessel
38	chr12:118803400-118808400	Weak transcription	K562	blood
39	chr12:118803600-118808200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:118803600-118808200	Weak transcription	NHEK	skin
41	chr12:118804000-118808400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:118804800-118809000	Weak transcription	Spleen	Spleen
43	chr12:118805200-118808400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:118806000-118808600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:118806200-118809000	Weak transcription	Psoas Muscle	Psoas
46	chr12:118806400-118808400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:118806600-118809000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:118806800-118808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:118806800-118809000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:118807000-118809200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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