Variant report

Variant	rs7258723
Chromosome Location	chr19:36944330-36944331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36944101..36946636-chr19:36951837..36953729,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs35217571	0.83[AFR][1000 genomes]
rs58453309	0.82[AFR][1000 genomes]
rs59860141	0.91[AFR][1000 genomes]
rs61616528	0.86[AFR][1000 genomes]
rs7254360	0.82[AFR][1000 genomes]
rs7255284	0.91[AFR][1000 genomes]
rs8101921	0.82[AFR][1000 genomes]
rs8107110	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36931800-36946800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:36934200-36950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:36934400-36946600	ZNF genes & repeats	Liver	Liver
4	chr19:36936000-36950000	ZNF genes & repeats	Fetal Brain Female	brain
5	chr19:36936200-36949600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:36936400-36946600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:36938000-36946600	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr19:36938200-36946000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr19:36938200-36947200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:36938200-36952200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:36938400-36946000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:36938400-36946400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:36938400-36946600	ZNF genes & repeats	Fetal Lung	lung
15	chr19:36938400-36951200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:36938600-36946400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:36938600-36946600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:36939200-36948600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr19:36939200-36949000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:36939800-36948200	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr19:36940000-36945400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:36940000-36945800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr19:36940000-36946600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:36940000-36946600	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:36940000-36948000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr19:36940800-36959400	Weak transcription	Brain Angular Gyrus	brain
27	chr19:36941000-36959400	Weak transcription	Placenta	Placenta
28	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
29	chr19:36941200-36947800	Weak transcription	Brain Anterior Caudate	brain
30	chr19:36941600-36944600	Weak transcription	Pancreas	Pancrea
31	chr19:36941600-36945200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:36942400-36944600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:36942400-36945000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36942400-36945400	Weak transcription	Fetal Heart	heart
35	chr19:36942400-36946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:36942600-36944600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:36942600-36944600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:36942600-36945200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:36942600-36946000	Weak transcription	NHDF-Ad	bronchial
41	chr19:36942600-36946400	Weak transcription	Brain Substantia Nigra	brain
42	chr19:36942600-36946400	Weak transcription	NH-A	brain
43	chr19:36942600-36947400	ZNF genes & repeats	Fetal Stomach	stomach
44	chr19:36942600-36951800	Weak transcription	HSMM	muscle
45	chr19:36942600-36957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:36942800-36946200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
50	chr19:36943000-36954600	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links