Variant report

Variant	rs73933258
Chromosome Location	chr19:40845114-40845115
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	SPI1	chr19:40844984-40845254	GM12891	blood:	n/a	chr19:40845118-40845127
2	CUX1	chr19:40844851-40845132	GM12878	blood:	n/a	n/a
3	SPI1	chr19:40844871-40845325	GM12891	blood:	n/a	chr19:40845118-40845127
4	SPI1	chr19:40844965-40845240	GM12878	blood:	n/a	chr19:40845118-40845127

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40842267..40845117-chr19:40949082..40951268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207281	TF binding region
ENSG00000206925	TF binding region
ENSG00000167565	Chromatin interaction
ENSG00000268366	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10408405	1.00[EUR][1000 genomes]
rs10412156	1.00[EUR][1000 genomes]
rs10422945	1.00[EUR][1000 genomes]
rs10424704	1.00[EUR][1000 genomes]
rs11879375	1.00[EUR][1000 genomes]
rs11881681	1.00[EUR][1000 genomes]
rs13345497	1.00[EUR][1000 genomes]
rs13346024	1.00[EUR][1000 genomes]
rs1865081	1.00[EUR][1000 genomes]
rs268659	1.00[EUR][1000 genomes]
rs28407044	1.00[EUR][1000 genomes]
rs28679850	1.00[EUR][1000 genomes]
rs28728269	1.00[EUR][1000 genomes]
rs3730257	1.00[EUR][1000 genomes]
rs4150984	1.00[EUR][1000 genomes]
rs55646097	1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61018633	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73559625	1.00[EUR][1000 genomes]
rs73559626	1.00[EUR][1000 genomes]
rs73559635	1.00[EUR][1000 genomes]
rs73933256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73933265	1.00[EUR][1000 genomes]
rs73933270	1.00[EUR][1000 genomes]
rs73933276	1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40820800-40848400	Strong transcription	Dnd41	blood
2	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
4	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
5	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
7	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr19:40825800-40845400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr19:40826400-40847400	Weak transcription	Right Atrium	heart
12	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
14	chr19:40833800-40846000	Weak transcription	Fetal Heart	heart
15	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:40834800-40845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
18	chr19:40836000-40845600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr19:40837200-40848400	Weak transcription	Psoas Muscle	Psoas
21	chr19:40837400-40847600	Weak transcription	Colonic Mucosa	Colon
22	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
24	chr19:40837600-40847400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:40837800-40846600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
27	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:40840000-40847400	Weak transcription	HMEC	breast
29	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
31	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:40840200-40850400	Weak transcription	Osteobl	bone
34	chr19:40840200-40852800	Weak transcription	HepG2	liver
35	chr19:40840400-40850800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
37	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
40	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:40841600-40847000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:40841800-40845600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:40842000-40847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:40842200-40847400	Weak transcription	Brain Angular Gyrus	brain
46	chr19:40842200-40847400	Weak transcription	Colon Smooth Muscle	Colon
47	chr19:40842200-40848600	Weak transcription	Gastric	stomach
48	chr19:40842200-40852800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:40842200-40853200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:40842200-40853600	Weak transcription	H9 Cell Line	embryonic stem cell

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