Variant report

Variant	rs73940801
Chromosome Location	chr19:47550726-47550727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:47541370..47542994-chr19:47549456..47551383,2	K562	blood:
2	chr19:47549317..47551372-chr19:47632654..47634516,2	MCF-7	breast:
3	chr19:47550175..47552727-chr19:47729479..47731915,2	MCF-7	breast:
4	chr19:47521811..47526741-chr19:47550453..47554269,5	K562	blood:
5	chr19:47290385..47292241-chr19:47550652..47552913,2	K562	blood:
6	chr19:47537595..47541132-chr19:47548303..47552925,5	K562	blood:
7	chr19:47550333..47554198-chr19:47612165..47616505,8	K562	blood:
8	chr19:47523048..47525181-chr19:47550453..47552080,2	K562	blood:
9	chr19:47549666..47554198-chr19:47613838..47618039,7	K562	blood:
10	chr19:47544284..47547116-chr19:47549771..47551356,2	K562	blood:
11	chr19:47539124..47541192-chr19:47549065..47553004,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105281	Chromatin interaction
ENSG00000265134	Chromatin interaction
ENSG00000130751	Chromatin interaction
ENSG00000130749	Chromatin interaction
ENSG00000105327	Chromatin interaction
ENSG00000142230	Chromatin interaction

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

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

rs_ID	r²[population]
rs10411622	1.00[EUR][1000 genomes]
rs58202699	1.00[EUR][1000 genomes]
rs59243401	1.00[EUR][1000 genomes]
rs60041996	1.00[EUR][1000 genomes]
rs73940802	1.00[EUR][1000 genomes]
rs7507173	1.00[AMR][1000 genomes]
rs7508420	1.00[AMR][1000 genomes]
rs8105893	1.00[EUR][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	esv3346722	chr19:46779000-47555828	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
2	esv3319153	chr19:46779004-47555796	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
3	esv3319154	chr19:46779004-47555796	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
4	esv3397605	chr19:46779033-47555776	Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
5	nsv917664	chr19:47482403-48177720	Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
6	nsv912192	chr19:47499031-47562123	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv912193	chr19:47519134-47562123	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv912194	chr19:47540859-47562123	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv912195	chr19:47540859-47569003	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:47539800-47550800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:47539800-47551200	Weak transcription	Aorta	Aorta
3	chr19:47540000-47550800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:47540000-47550800	Weak transcription	Small Intestine	intestine
5	chr19:47540200-47550800	Weak transcription	Fetal Intestine Large	intestine
6	chr19:47540200-47550800	Weak transcription	Stomach Mucosa	stomach
7	chr19:47548800-47550800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:47549200-47550800	Enhancers	Fetal Brain Male	brain
9	chr19:47549400-47551800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:47549800-47551200	Enhancers	Pancreas	Pancrea
11	chr19:47549800-47551200	Enhancers	Spleen	Spleen
12	chr19:47550000-47550800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:47550000-47550800	Weak transcription	Fetal Intestine Small	intestine
14	chr19:47550000-47550800	Weak transcription	Fetal Stomach	stomach
15	chr19:47550000-47551000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:47550000-47551000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:47550000-47551000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:47550200-47550800	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:47550200-47550800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr19:47550200-47551000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:47550200-47551000	Weak transcription	Ovary	ovary
22	chr19:47550200-47551200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr19:47550400-47550800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr19:47550400-47550800	Enhancers	Primary T cells from cord blood	blood
25	chr19:47550400-47550800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr19:47550400-47550800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:47550400-47550800	Enhancers	Liver	Liver
28	chr19:47550400-47550800	Enhancers	Brain Germinal Matrix	brain
29	chr19:47550400-47550800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr19:47550400-47550800	Enhancers	Fetal Muscle Trunk	muscle
31	chr19:47550400-47550800	Enhancers	Fetal Muscle Leg	muscle
32	chr19:47550400-47551000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:47550400-47551000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr19:47550400-47551000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:47550400-47551000	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr19:47550400-47551000	Enhancers	Left Ventricle	heart
37	chr19:47550400-47551000	Flanking Active TSS	HepG2	liver
38	chr19:47550400-47551000	Flanking Active TSS	K562	blood
39	chr19:47550400-47551200	Flanking Active TSS	GM12878-XiMat	blood
40	chr19:47550400-47551600	Flanking Active TSS	Dnd41	blood
41	chr19:47550400-47552600	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:47550400-47552800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr19:47550400-47552800	Active TSS	HSMM	muscle
44	chr19:47550600-47550800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:47550600-47550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:47550600-47550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:47550600-47550800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:47550600-47550800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:47550600-47550800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:47550600-47550800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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