Variant report

Variant	rs73398079
Chromosome Location	chr18:12342567-12342568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12308320..12312563-chr18:12341633..12345035,3	MCF-7	breast:
2	chr18:12340511..12343752-chr18:12347443..12350454,3	K562	blood:
3	chr18:12334246..12336186-chr18:12342528..12345170,2	K562	blood:

Variant related genes	Relation type
ENSG00000176014	Chromatin interaction
ENSG00000141385	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11080570	1.00[AMR][1000 genomes]
rs73398069	0.94[AFR][1000 genomes]
rs73398081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73947507	1.00[AMR][1000 genomes]
rs8096892	1.00[AMR][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	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
3	chr18:12323400-12342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr18:12326000-12343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr18:12326200-12366400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:12333200-12362200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr18:12333200-12370800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr18:12333200-12371200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:12333400-12366600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:12333400-12370200	Strong transcription	Fetal Thymus	thymus
11	chr18:12333400-12370800	Strong transcription	Fetal Muscle Leg	muscle
12	chr18:12333400-12371400	Strong transcription	Fetal Stomach	stomach
13	chr18:12333600-12356800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:12333600-12358200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:12333600-12361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:12333600-12362600	Strong transcription	Adipose Nuclei	Adipose
17	chr18:12333600-12364000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr18:12333600-12366400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr18:12333600-12369600	Strong transcription	Placenta	Placenta
20	chr18:12333600-12369800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr18:12333800-12348600	Strong transcription	Brain Hippocampus Middle	brain
22	chr18:12333800-12353200	Strong transcription	Fetal Brain Female	brain
23	chr18:12333800-12357000	Strong transcription	Brain Anterior Caudate	brain
24	chr18:12333800-12360200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr18:12333800-12369400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr18:12334000-12369400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr18:12335600-12362600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:12336800-12348400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:12337000-12367600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr18:12337000-12374200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:12337200-12359800	Strong transcription	Fetal Intestine Large	intestine
32	chr18:12337200-12369400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:12337400-12343000	Weak transcription	Fetal Brain Male	brain
34	chr18:12337400-12343400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr18:12337400-12345000	Weak transcription	Stomach Mucosa	stomach
36	chr18:12337400-12345400	Weak transcription	HUVEC	blood vessel
37	chr18:12337400-12354200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:12337400-12369800	Strong transcription	Liver	Liver
39	chr18:12337400-12370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:12337800-12342600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:12337800-12343400	Weak transcription	Brain Substantia Nigra	brain
42	chr18:12337800-12344200	Weak transcription	Fetal Kidney	kidney
43	chr18:12337800-12348000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:12337800-12357000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:12337800-12360200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:12337800-12360600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr18:12337800-12369600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:12337800-12370800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:12338400-12342800	Weak transcription	Pancreas	Pancrea
50	chr18:12338600-12343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links