Variant report

Variant	rs73398069
Chromosome Location	chr18:12336242-12336243
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12304979..12308873-chr18:12332783..12336926,3	K562	blood:
2	chr18:12307373..12309147-chr18:12335426..12337679,2	K562	blood:
3	chr18:12313329..12315227-chr18:12335610..12338278,2	K562	blood:
4	chr18:12309313..12312439-chr18:12334613..12337209,3	MCF-7	breast:
5	chr18:12333547..12336346-chr18:12375267..12377221,2	K562	blood:
6	chr18:12330971..12332498-chr18:12334634..12336451,2	K562	blood:
7	chr18:12327171..12330634-chr18:12335563..12338039,3	K562	blood:
8	chr18:12308133..12311040-chr18:12335437..12337755,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction
ENSG00000176014	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73398079	0.94[AFR][1000 genomes]
rs73398081	1.00[AFR][1000 genomes]
rs73398089	1.00[AFR][1000 genomes]
rs73401929	0.91[AFR][1000 genomes]
rs8096892	0.82[AFR][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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
2	chr18:12319000-12336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
4	chr18:12323400-12342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr18:12324800-12337000	Strong transcription	Liver	Liver
6	chr18:12324800-12338800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr18:12324800-12339400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:12326000-12343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr18:12329600-12336800	Weak transcription	NHDF-Ad	bronchial
11	chr18:12331400-12336800	Weak transcription	HUVEC	blood vessel
12	chr18:12333000-12336400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:12333000-12336800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:12333200-12339600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:12333200-12362200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:12333200-12370800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr18:12333200-12371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr18:12333400-12336400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:12333400-12336400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:12333400-12337000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr18:12333400-12339000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr18:12333400-12339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr18:12333400-12339000	Strong transcription	Colonic Mucosa	Colon
24	chr18:12333400-12339200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr18:12333400-12339600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr18:12333400-12339600	Strong transcription	Thymus	Thymus
27	chr18:12333400-12340800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr18:12333400-12366600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:12333400-12370200	Strong transcription	Fetal Thymus	thymus
30	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
31	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
32	chr18:12333600-12336400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:12333600-12336400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:12333600-12336400	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr18:12333600-12336400	Strong transcription	Fetal Lung	lung
36	chr18:12333600-12336400	Strong transcription	NHLF	lung
37	chr18:12333600-12336800	Strong transcription	GM12878-XiMat	blood
38	chr18:12333600-12336800	Strong transcription	Hela-S3	cervix
39	chr18:12333600-12336800	Strong transcription	HSMM	muscle
40	chr18:12333600-12336800	Strong transcription	Osteobl	bone
41	chr18:12333600-12337400	Genic enhancers	Fetal Heart	heart
42	chr18:12333600-12337400	Strong transcription	K562	blood
43	chr18:12333600-12338600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:12333600-12338600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr18:12333600-12338600	Strong transcription	Ovary	ovary
46	chr18:12333600-12338600	Strong transcription	Spleen	Spleen
47	chr18:12333600-12338800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr18:12333600-12339000	Strong transcription	Dnd41	blood
49	chr18:12333600-12339200	Strong transcription	Brain Germinal Matrix	brain
50	chr18:12333600-12356800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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