Variant report

Variant	rs61730567
Chromosome Location	chr19:39804837-39804838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39801479..39804972-chr19:39805498..39809517,5	K562	blood:
2	chr19:39798204..39800561-chr19:39803519..39805223,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128011	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56222183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57536536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60577443	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes]
rs61112725	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61124676	1.00[AMR][1000 genomes]
rs61213828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61595075	1.00[AMR][1000 genomes]
rs7250234	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73544098	1.00[AMR][1000 genomes]
rs73546015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546026	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546080	1.00[AMR][1000 genomes]
rs73547904	1.00[AMR][1000 genomes]
rs73547972	1.00[AMR][1000 genomes]
rs73553808	1.00[AMR][1000 genomes]
rs73553810	1.00[AMR][1000 genomes]
rs73553812	1.00[AMR][1000 genomes]
rs73553822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:39798200-39809800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:39798600-39810800	Weak transcription	Right Atrium	heart
5	chr19:39798800-39807400	Strong transcription	Dnd41	blood
6	chr19:39798800-39810600	Weak transcription	Primary B cells from cord blood	blood
7	chr19:39799000-39810400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:39799200-39810200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:39799600-39805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr19:39799600-39806400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:39799600-39809200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:39799800-39805400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:39799800-39810000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr19:39800000-39810200	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:39800200-39809200	Strong transcription	Primary T cells from cord blood	blood
16	chr19:39800400-39810200	Weak transcription	Fetal Lung	lung
17	chr19:39800600-39811000	Weak transcription	Small Intestine	intestine
18	chr19:39801000-39805000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:39801000-39806000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr19:39801000-39806800	Strong transcription	Fetal Stomach	stomach
21	chr19:39801000-39808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:39801000-39809200	Strong transcription	Thymus	Thymus
23	chr19:39801200-39807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr19:39801200-39808200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:39801400-39810400	Weak transcription	Brain Substantia Nigra	brain
26	chr19:39801400-39810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr19:39801800-39805000	Weak transcription	Esophagus	oesophagus
28	chr19:39801800-39805800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr19:39802000-39806000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:39802000-39806200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:39802000-39807200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr19:39802000-39809000	Strong transcription	Brain Germinal Matrix	brain
33	chr19:39802000-39809200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:39802000-39809600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:39802200-39807000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:39802200-39808000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:39802200-39808800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr19:39802200-39808800	Weak transcription	Fetal Brain Male	brain
39	chr19:39802200-39809800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:39802200-39810000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:39802600-39806000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:39802600-39809800	Weak transcription	K562	blood
43	chr19:39802600-39810800	Weak transcription	Right Ventricle	heart
44	chr19:39802800-39805600	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:39802800-39805800	Strong transcription	Brain Hippocampus Middle	brain
46	chr19:39802800-39805800	Strong transcription	Pancreas	Pancrea
47	chr19:39802800-39806200	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr19:39802800-39807000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr19:39802800-39807400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:39803000-39805000	Weak transcription	Fetal Thymus	thymus

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