Variant report

Variant	rs9964653
Chromosome Location	chr18:12368531-12368532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12357078..12360021-chr18:12368402..12370925,2	MCF-7	breast:
2	chr18:12362726..12365078-chr18:12367506..12369159,2	MCF-7	breast:
3	chr18:12359165..12362108-chr18:12367280..12369395,2	K562	blood:

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs9946027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9961298	1.00[AMR][1000 genomes]
rs9962240	1.00[AMR][1000 genomes]
rs9962634	1.00[AMR][1000 genomes]
rs9964600	1.00[AMR][1000 genomes]
rs9965144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr18:12333200-12370800	Strong transcription	Fetal Muscle Trunk	muscle
2	chr18:12333200-12371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:12333400-12370200	Strong transcription	Fetal Thymus	thymus
4	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
5	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
6	chr18:12333600-12369600	Strong transcription	Placenta	Placenta
7	chr18:12333600-12369800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr18:12333800-12369400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr18:12334000-12369400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr18:12337000-12374200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:12337200-12369400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:12337400-12369800	Strong transcription	Liver	Liver
13	chr18:12337400-12370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:12337800-12369600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:12337800-12370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:12339200-12368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:12339800-12370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:12339800-12371400	Strong transcription	Dnd41	blood
19	chr18:12340000-12369400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr18:12340000-12369400	Strong transcription	HepG2	liver
21	chr18:12340000-12369600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr18:12340000-12370800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr18:12340000-12371400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:12340000-12371600	Strong transcription	GM12878-XiMat	blood
25	chr18:12340200-12369400	Strong transcription	Hela-S3	cervix
26	chr18:12341000-12370800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:12341000-12370800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr18:12341000-12370800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr18:12341600-12369400	Strong transcription	Lung	lung
30	chr18:12341600-12370800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr18:12341800-12369400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr18:12349200-12369400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr18:12350600-12369600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:12353600-12369600	Strong transcription	Primary B cells from cord blood	blood
35	chr18:12354200-12369400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr18:12355400-12369400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:12356800-12369000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:12357800-12369400	Strong transcription	Primary T cells from cord blood	blood
39	chr18:12357800-12369400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:12357800-12369600	Strong transcription	Esophagus	oesophagus
41	chr18:12358000-12372400	Strong transcription	NHEK	skin
42	chr18:12358200-12369400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr18:12358200-12369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:12358600-12371400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:12359200-12370800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:12359200-12376000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:12359800-12375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:12360000-12373400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr18:12360400-12368800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr18:12360600-12369000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links