Variant report

Variant	rs72911127
Chromosome Location	chr18:44457516-44457517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72907200	1.00[EUR][1000 genomes]
rs72917169	1.00[EUR][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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44437200-44461600	Weak transcription	Ovary	ovary
2	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
5	chr18:44449000-44468600	Weak transcription	NHLF	lung
6	chr18:44449200-44458800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:44449600-44457600	Weak transcription	Right Ventricle	heart
8	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:44450600-44460000	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr18:44450800-44468600	Weak transcription	Gastric	stomach
11	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr18:44451800-44460400	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr18:44452000-44460200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:44452800-44460200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr18:44453400-44468400	Weak transcription	HSMM	muscle
16	chr18:44453600-44457600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr18:44454000-44468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr18:44454400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:44454600-44460800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr18:44454800-44460000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr18:44454800-44460400	ZNF genes & repeats	Dnd41	blood
22	chr18:44454800-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:44454800-44460600	Weak transcription	K562	blood
24	chr18:44455400-44460600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:44455600-44457800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:44455600-44458200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:44455600-44461200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr18:44456000-44460600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr18:44456200-44457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:44456200-44466000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:44456400-44459800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr18:44456600-44459000	Weak transcription	Fetal Kidney	kidney
33	chr18:44456800-44457800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr18:44457000-44458200	ZNF genes & repeats	Liver	Liver
35	chr18:44457000-44458400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:44457000-44458800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr18:44457000-44459200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr18:44457200-44457800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:44457200-44458400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:44457200-44458800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr18:44457200-44459000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr18:44457200-44459400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr18:44457200-44459400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr18:44457200-44460400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:44457400-44457600	ZNF genes & repeats	HMEC	breast
46	chr18:44457400-44457800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:44457400-44457800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:44457400-44457800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:44457400-44457800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr18:44457400-44457800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links