Variant report

Variant	rs73939890
Chromosome Location	chr18:9575949-9575950
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9573929..9576042-chr18:9682222..9683938,2	K562	blood:
2	chr18:9575357..9576099-chr18:9683070..9683881,4	MCF-7	breast:
3	chr18:9575405..9579354-chr18:9587737..9592465,5	K562	blood:
4	chr18:9566461..9572065-chr18:9572620..9578759,7	K562	blood:
5	chr18:9575214..9576129-chr18:9951013..9951824,3	K562	blood:
6	chr18:9575298..9576117-chr18:9611923..9612878,3	MCF-7	breast:
7	chr18:9561840..9564033-chr18:9575235..9576918,2	K562	blood:
8	chr18:9574087..9576896-chr18:9600490..9602058,2	K562	blood:
9	chr18:9552433..9554256-chr18:9573786..9576485,2	K562	blood:
10	chr18:9566461..9572540-chr18:9573224..9580743,8	K562	blood:
11	chr18:9575576..9576151-chr18:9661257..9662212,2	MCF-7	breast:
12	chr18:9575217..9576135-chr18:9661275..9662526,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56233721	1.00[AMR][1000 genomes]
rs56838001	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59755487	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60566979	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60902767	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939879	0.90[AFR][1000 genomes]
rs73939881	1.00[AMR][1000 genomes]
rs73939882	1.00[AMR][1000 genomes]
rs73939888	1.00[AMR][1000 genomes]
rs73939893	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942107	1.00[AMR][1000 genomes]
rs73942110	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73942111	1.00[AMR][1000 genomes]
rs73942114	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 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	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr18:9545800-9595200	Strong transcription	Dnd41	blood
3	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
4	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9554000-9576000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:9554400-9578400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
12	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr18:9560200-9577600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:9560400-9577600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
18	chr18:9563600-9577400	Weak transcription	Spleen	Spleen
19	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
21	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr18:9564200-9579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr18:9565000-9576000	Weak transcription	Right Atrium	heart
24	chr18:9565000-9579400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:9565600-9578000	Strong transcription	Placenta	Placenta
27	chr18:9566400-9577600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:9566600-9577000	Strong transcription	HMEC	breast
29	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:9566800-9594600	Strong transcription	HSMM	muscle
31	chr18:9567000-9576400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:9567200-9577800	Strong transcription	NHEK	skin
33	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr18:9569200-9578200	Weak transcription	Gastric	stomach
35	chr18:9569800-9576200	Strong transcription	Fetal Thymus	thymus
36	chr18:9569800-9582400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:9570600-9577400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:9570600-9577400	Weak transcription	Lung	lung
40	chr18:9570600-9577400	Weak transcription	Pancreas	Pancrea
41	chr18:9570600-9580600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr18:9570600-9580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:9570600-9580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:9570600-9580800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr18:9570600-9580800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr18:9570800-9576000	Weak transcription	Fetal Intestine Small	intestine
47	chr18:9570800-9577400	Weak transcription	Fetal Brain Female	brain
48	chr18:9570800-9579400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:9571000-9577200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr18:9571800-9579400	Weak transcription	Right Ventricle	heart

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