Variant report

Variant	rs72875309
Chromosome Location	chr18:12370204-12370205
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	chr18:12360642..12363502-chr18:12370085..12373310,4	K562	blood:
3	chr18:12369983..12374854-chr18:12375235..12379102,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11659246	0.85[ASN][1000 genomes]
rs11660106	0.85[ASN][1000 genomes]
rs11661684	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11661708	0.95[ASN][1000 genomes]
rs11663340	0.85[ASN][1000 genomes]
rs11664255	0.85[ASN][1000 genomes]
rs11664282	0.85[ASN][1000 genomes]
rs11872615	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12327346	0.92[ASN][1000 genomes]
rs28470464	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28823942	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416994	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7231304	0.89[ASN][1000 genomes]
rs7233290	0.89[ASN][1000 genomes]
rs7235929	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7237135	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7504616	0.85[ASN][1000 genomes]
rs9944742	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9946108	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9950665	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9964041	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9964437	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9964720	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9966470	0.93[ASN][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	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
4	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
5	chr18:12337000-12374200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:12337400-12370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:12337800-12370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12339800-12371400	Strong transcription	Dnd41	blood
9	chr18:12340000-12370800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr18:12340000-12371400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:12340000-12371600	Strong transcription	GM12878-XiMat	blood
12	chr18:12341000-12370800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr18:12341000-12370800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr18:12341000-12370800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:12341600-12370800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr18:12358000-12372400	Strong transcription	NHEK	skin
17	chr18:12358600-12371400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:12359200-12370800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:12359200-12376000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:12359800-12375800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:12360000-12373400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:12362400-12371000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:12363000-12371000	Strong transcription	K562	blood
24	chr18:12363200-12371600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:12364400-12371600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr18:12366600-12371600	Strong transcription	Osteobl	bone
27	chr18:12366800-12371800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr18:12367200-12371800	Weak transcription	Small Intestine	intestine
29	chr18:12367400-12371400	Weak transcription	Stomach Mucosa	stomach
30	chr18:12367600-12372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:12367600-12372600	Weak transcription	NHDF-Ad	bronchial
32	chr18:12367600-12373200	Weak transcription	HSMM	muscle
33	chr18:12367600-12376000	Weak transcription	Fetal Kidney	kidney
34	chr18:12367800-12371200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr18:12367800-12372400	Weak transcription	Brain Hippocampus Middle	brain
36	chr18:12367800-12372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr18:12367800-12373400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr18:12367800-12374400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr18:12367800-12375400	Weak transcription	HMEC	breast
40	chr18:12368000-12370800	Strong transcription	Fetal Intestine Large	intestine
41	chr18:12368000-12371200	Strong transcription	Fetal Intestine Small	intestine
42	chr18:12368400-12370800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:12368600-12371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr18:12368600-12372400	Weak transcription	HSMMtube	muscle
45	chr18:12368600-12373000	Weak transcription	HUVEC	blood vessel
46	chr18:12368800-12374400	Weak transcription	Fetal Brain Male	brain
47	chr18:12368800-12375400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr18:12369000-12372400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:12369200-12371400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr18:12369200-12372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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