Variant report

Variant	rs3730257
Chromosome Location	chr19:40747996-40747997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40747550-40748176	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:40747751-40748169	PFSK-1	brain:	n/a	n/a
3	GATA2	chr19:40747733-40748176	HUVEC	blood vessel:	n/a	chr19:40748095-40748105
4	FOS	chr19:40747744-40748143	HUVEC	blood vessel:	n/a	n/a
5	MYC	chr19:40747747-40748034	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr19:40747860-40748010	HPAF	blood vessel:	n/a	n/a
7	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr19:40747717-40747997	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr19:40747641-40748142	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40730457..40732107-chr19:40746793..40748406,2	MCF-7	breast:
2	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
3	chr19:40746507..40749034-chr19:40749901..40751932,2	K562	blood:
4	chr19:40746123..40749034-chr19:40749509..40752053,3	K562	blood:

No data

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000105219	Chromatin interaction

Extended variants
information (count: 33 )
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]
rs4150984	1.00[EUR][1000 genomes]
rs55646097	1.00[EUR][1000 genomes]
rs55860305	1.00[EUR][1000 genomes]
rs55954198	1.00[EUR][1000 genomes]
rs61018633	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[EUR][1000 genomes]
rs73933258	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:7 , 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	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	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
6	nsv1062755	chr19:40737463-40758235	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1059094	chr19:40745377-40758235	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40735600-40757600	Weak transcription	Stomach Mucosa	stomach
3	chr19:40735800-40748200	Weak transcription	Psoas Muscle	Psoas
4	chr19:40737600-40748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:40737600-40749600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:40737600-40751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:40738000-40748600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr19:40738000-40748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:40738000-40749000	Strong transcription	Thymus	Thymus
10	chr19:40738000-40751600	Strong transcription	Dnd41	blood
11	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:40738200-40748200	Strong transcription	Pancreas	Pancrea
13	chr19:40738200-40748600	Strong transcription	NHLF	lung
14	chr19:40738200-40748800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:40738200-40749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:40738200-40756200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:40738400-40749400	Strong transcription	Fetal Thymus	thymus
18	chr19:40738400-40749600	Strong transcription	Fetal Brain Female	brain
19	chr19:40738600-40748600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:40738800-40748400	Strong transcription	Colonic Mucosa	Colon
21	chr19:40738800-40748600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr19:40738800-40748800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:40738800-40749600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr19:40738800-40750800	Weak transcription	Fetal Heart	heart
25	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:40739000-40748000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:40739000-40748600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:40739000-40748600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:40739000-40748600	Strong transcription	Gastric	stomach
30	chr19:40739000-40749000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:40739000-40749400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:40739000-40751200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:40739200-40748400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:40739200-40748600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr19:40739200-40749400	Strong transcription	Fetal Intestine Large	intestine
36	chr19:40739200-40749600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr19:40739200-40750200	Strong transcription	Fetal Stomach	stomach
38	chr19:40739200-40750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:40739200-40750800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:40739200-40751200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:40739200-40751600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:40739200-40758400	Strong transcription	Fetal Intestine Small	intestine
43	chr19:40739400-40748800	Strong transcription	Placenta	Placenta
44	chr19:40739400-40748800	Strong transcription	A549	lung
45	chr19:40739400-40749000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:40739600-40748000	Strong transcription	Liver	Liver
47	chr19:40739600-40749600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:40739800-40748600	Strong transcription	Primary T cells from cord blood	blood
49	chr19:40740000-40748400	Strong transcription	NHEK	skin
50	chr19:40740000-40748600	Strong transcription	H9 Cell Line	embryonic stem cell

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