Variant report

Variant	rs4305190
Chromosome Location	chr19:44893759-44893760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10425040	0.81[AMR][1000 genomes]
rs11881044	0.84[AMR][1000 genomes]
rs12709876	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12709877	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2466414	0.84[AMR][1000 genomes]
rs2466415	0.84[AMR][1000 genomes]
rs2571089	0.88[ASN][1000 genomes]
rs2571090	0.87[ASN][1000 genomes]
rs2571093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571094	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2571096	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571097	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571098	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571121	0.84[AMR][1000 genomes]
rs2571122	0.84[AMR][1000 genomes]
rs2571123	0.84[AMR][1000 genomes]
rs2571124	0.81[AMR][1000 genomes]
rs2571125	0.84[AMR][1000 genomes]
rs2571126	0.82[AMR][1000 genomes]
rs2571128	0.81[AMR][1000 genomes]
rs2571129	0.83[AMR][1000 genomes]
rs2571130	0.84[AMR][1000 genomes]
rs2571131	0.81[AMR][1000 genomes]
rs2571132	0.84[AMR][1000 genomes]
rs2571134	0.82[AMR][1000 genomes]
rs2722644	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2722646	0.84[AMR][1000 genomes]
rs2722650	0.80[AMR][1000 genomes]
rs4255877	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4268861	0.84[AMR][1000 genomes]
rs62116777	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73039954	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	5 gene(s)	inside rSNPs	diseases
5	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1062330	chr19:44863939-44938277	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv960889	chr19:44877441-44913480	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv960852	chr19:44890187-44921203	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3318557	chr19:44892181-44938875	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3318558	chr19:44892356-44938748	Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv15098	chr19:44892380-44913200	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv9734	chr19:44892761-44940023	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44888200-44893800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
3	chr19:44888600-44893800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:44889000-44893800	Weak transcription	Fetal Intestine Large	intestine
5	chr19:44889000-44894000	Weak transcription	Fetal Stomach	stomach
6	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
7	chr19:44889200-44896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:44889600-44896800	Strong transcription	Fetal Brain Female	brain
9	chr19:44889600-44897600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:44889600-44899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:44889800-44894600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:44889800-44897800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:44889800-44904800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:44890000-44896200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:44890000-44897600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:44890200-44894200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:44890200-44894400	Weak transcription	Brain Angular Gyrus	brain
18	chr19:44890200-44904800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:44890200-44904800	Weak transcription	HSMMtube	muscle
20	chr19:44890400-44895600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:44890400-44896800	ZNF genes & repeats	Ovary	ovary
22	chr19:44890600-44894200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:44890600-44894400	Weak transcription	Brain Substantia Nigra	brain
24	chr19:44890600-44898800	Weak transcription	Colonic Mucosa	Colon
25	chr19:44890600-44905000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:44890800-44899000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:44891000-44895600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:44891000-44896400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr19:44891200-44894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:44891400-44905200	Weak transcription	Gastric	stomach
31	chr19:44891600-44894200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:44891800-44899800	Weak transcription	Pancreas	Pancrea
33	chr19:44892200-44894200	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr19:44892200-44894400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr19:44892200-44895600	Weak transcription	Brain Anterior Caudate	brain
36	chr19:44892200-44895600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:44892200-44905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:44892400-44893800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:44892400-44894000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:44892400-44894000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:44892400-44894000	Weak transcription	Left Ventricle	heart
42	chr19:44892400-44894200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:44892400-44894400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:44892400-44896200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:44892400-44900400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:44892400-44901400	Weak transcription	A549	lung
47	chr19:44892400-44905000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:44892600-44894000	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:44892600-44894200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:44892600-44894200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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