Variant report

Variant	rs60994843
Chromosome Location	chr19:56776351-56776352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10401852	1.00[EUR][1000 genomes]
rs10404368	1.00[AMR][1000 genomes]
rs12104157	1.00[EUR][1000 genomes]
rs12104316	1.00[EUR][1000 genomes]
rs28715006	1.00[EUR][1000 genomes]
rs58167140	1.00[EUR][1000 genomes]
rs58477337	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73621065	1.00[EUR][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	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv1058152	chr19:56703368-56805035	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv544093	chr19:56703368-56805035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:56751000-56776400	Weak transcription	Lung	lung
4	chr19:56753000-56809000	Weak transcription	Gastric	stomach
5	chr19:56764200-56788400	Weak transcription	A549	lung
6	chr19:56764400-56788400	Weak transcription	Fetal Muscle Leg	muscle
7	chr19:56764400-56788600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr19:56764400-56798600	Weak transcription	Placenta	Placenta
9	chr19:56764600-56788200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:56764600-56799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:56764600-56804000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:56765000-56788400	Weak transcription	Brain Anterior Caudate	brain
13	chr19:56766600-56804200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr19:56767400-56782400	Weak transcription	Fetal Kidney	kidney
15	chr19:56768400-56782000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:56768600-56777200	Weak transcription	Fetal Lung	lung
17	chr19:56768600-56794800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:56768800-56783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:56769000-56782200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:56769200-56788400	Weak transcription	Adipose Nuclei	Adipose
21	chr19:56770000-56777800	Weak transcription	Brain Angular Gyrus	brain
22	chr19:56770000-56782400	Weak transcription	Fetal Stomach	stomach
23	chr19:56770200-56795200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:56770200-56799400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:56770400-56804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:56771200-56787200	Weak transcription	Liver	Liver
27	chr19:56771200-56788400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:56771200-56792000	Weak transcription	Aorta	Aorta
29	chr19:56771400-56817200	Weak transcription	Fetal Brain Male	brain
30	chr19:56771600-56807000	Weak transcription	Right Ventricle	heart
31	chr19:56772000-56788400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:56772400-56788400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:56772800-56782200	Weak transcription	HSMM	muscle
34	chr19:56772800-56784400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:56772800-56788400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:56772800-56807600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:56773000-56788200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:56773000-56807400	Weak transcription	Esophagus	oesophagus
40	chr19:56773600-56790000	Weak transcription	Primary B cells from cord blood	blood
41	chr19:56774000-56776600	Weak transcription	Ovary	ovary
42	chr19:56774200-56788400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr19:56774600-56776400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr19:56774600-56779600	Enhancers	Fetal Heart	heart
45	chr19:56775000-56777000	Weak transcription	Left Ventricle	heart
46	chr19:56775000-56779000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:56775000-56783800	Weak transcription	Primary T cells from cord blood	blood
48	chr19:56775000-56784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:56775800-56815600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:56776000-56782200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links