Variant report

Variant	rs73933273
Chromosome Location	chr19:40878050-40878051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40876673-40878227	K562	blood:	n/a	n/a
2	NR2F2	chr19:40876807-40878091	K562	blood:	n/a	n/a
3	POLR2A	chr19:40876588-40878295	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40878019..40881600-chr19:40884550..40887494,4	K562	blood:
2	chr19:40853028..40855563-chr19:40876148..40878218,2	K562	blood:
3	chr19:40877080..40879166-chr19:40881105..40883864,2	MCF-7	breast:

Variant related genes	Relation type
PLD3	TF binding region
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11882248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28631114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933239	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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer 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	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40864000-40884400	Weak transcription	HepG2	liver
2	chr19:40869400-40878800	Weak transcription	HSMM	muscle
3	chr19:40869800-40880200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:40871400-40880400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:40871600-40880800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:40871600-40881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:40872000-40878800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:40872000-40880200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:40872200-40880400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr19:40872200-40880800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:40872200-40880800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr19:40872200-40881600	Weak transcription	GM12878-XiMat	blood
13	chr19:40872200-40887000	Strong transcription	Liver	Liver
14	chr19:40872200-40887400	Weak transcription	Primary B cells from cord blood	blood
15	chr19:40872200-40887400	Weak transcription	Stomach Mucosa	stomach
16	chr19:40872400-40880400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr19:40872400-40880400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:40872400-40881200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:40872400-40881400	Strong transcription	Ovary	ovary
20	chr19:40872400-40885600	Weak transcription	NHDF-Ad	bronchial
21	chr19:40872400-40886200	Weak transcription	HUVEC	blood vessel
22	chr19:40872600-40878200	Strong transcription	Right Ventricle	heart
23	chr19:40872600-40878400	Strong transcription	NHLF	lung
24	chr19:40872600-40880600	Strong transcription	Colon Smooth Muscle	Colon
25	chr19:40872600-40880800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr19:40872600-40883000	Strong transcription	Osteobl	bone
27	chr19:40872600-40884400	Strong transcription	Adipose Nuclei	Adipose
28	chr19:40872800-40879400	Weak transcription	Fetal Thymus	thymus
29	chr19:40872800-40880800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:40872800-40881200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:40872800-40882400	Weak transcription	HMEC	breast
32	chr19:40872800-40883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr19:40872800-40883800	Weak transcription	Hela-S3	cervix
34	chr19:40872800-40886600	Strong transcription	Brain Hippocampus Middle	brain
35	chr19:40872800-40904400	Weak transcription	Right Atrium	heart
36	chr19:40873000-40878400	Strong transcription	Lung	lung
37	chr19:40873000-40880000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:40873000-40885400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:40873000-40885600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:40873000-40886600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:40873000-40887000	Strong transcription	Primary T cells from cord blood	blood
42	chr19:40873000-40887000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:40873000-40887400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:40873000-40887800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:40873200-40881600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr19:40873200-40885800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:40873400-40880800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:40873400-40881200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr19:40873400-40887200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:40873400-40887400	Strong transcription	Fetal Brain Female	brain

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