Variant report

Variant	rs60037732
Chromosome Location	chr19:40513328-40513329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40502336..40505480-chr19:40510582..40514287,4	MCF-7	breast:
2	chr19:40501435..40504284-chr19:40512713..40514616,2	K562	blood:
3	chr19:40511172..40513769-chr19:40527120..40529945,2	K562	blood:
4	chr19:40501262..40504284-chr19:40510517..40514213,4	K562	blood:
5	chr19:40494709..40496670-chr19:40512034..40513660,2	K562	blood:
6	chr19:40474771..40476909-chr19:40510895..40513738,3	K562	blood:

Variant related genes	Relation type
ENSG00000187187	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs450095	0.87[EUR][1000 genomes]
rs55724336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59307138	1.00[EUR][1000 genomes]
rs61655884	0.87[EUR][1000 genomes]
rs7245925	0.87[EUR][1000 genomes]
rs7249514	1.00[EUR][1000 genomes]
rs7250763	1.00[EUR][1000 genomes]
rs7255186	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73543966	1.00[EUR][1000 genomes]
rs73545987	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73545999	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547626	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73547632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73547672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549848	1.00[EUR][1000 genomes]
rs73551667	0.87[EUR][1000 genomes]
rs73551692	0.87[EUR][1000 genomes]
rs8106043	0.87[EUR][1000 genomes]
rs8106753	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40514000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
3	chr19:40503800-40513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:40503800-40513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:40503800-40513400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:40503800-40513800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr19:40503800-40513800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:40503800-40513800	Weak transcription	Fetal Stomach	stomach
9	chr19:40503800-40514000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:40503800-40514000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:40503800-40514400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:40503800-40514600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:40503800-40514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:40503800-40516000	Weak transcription	Fetal Intestine Small	intestine
15	chr19:40504000-40513400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr19:40504000-40513600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40504000-40517600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:40504000-40519600	Weak transcription	Fetal Brain Male	brain
19	chr19:40504000-40519600	Weak transcription	Hela-S3	cervix
20	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:40504400-40513400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:40505000-40514600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:40507200-40513800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:40510600-40515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:40511200-40515600	Strong transcription	Primary T cells from cord blood	blood
26	chr19:40511400-40517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:40511400-40518000	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:40511600-40522000	ZNF genes & repeats	A549	lung
29	chr19:40511800-40513400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:40511800-40513600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:40511800-40514400	Strong transcription	Ovary	ovary
32	chr19:40511800-40516200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:40511800-40516400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:40511800-40518000	Strong transcription	Colon Smooth Muscle	Colon
35	chr19:40512000-40513600	Strong transcription	Esophagus	oesophagus
36	chr19:40512000-40514400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr19:40512000-40514800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:40512000-40515400	Strong transcription	Dnd41	blood
39	chr19:40512000-40515600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr19:40512000-40516000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr19:40512000-40517600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:40512000-40517800	Strong transcription	Primary B cells from cord blood	blood
43	chr19:40512000-40519200	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
45	chr19:40512200-40514400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr19:40512200-40514400	Strong transcription	Adipose Nuclei	Adipose
47	chr19:40512200-40514600	Strong transcription	Aorta	Aorta
48	chr19:40512200-40514800	Strong transcription	Gastric	stomach
49	chr19:40512200-40515200	Strong transcription	Brain Substantia Nigra	brain
50	chr19:40512200-40515200	Strong transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links