Variant report

Variant	rs58094119
Chromosome Location	chr19:40749938-40749939
allele	A/G
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	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40746507..40749034-chr19:40749901..40751932,2	K562	blood:
2	chr19:40746123..40749034-chr19:40749509..40752053,3	K562	blood:

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

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11666690	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11667443	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11668520	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11669006	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11669332	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670860	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670912	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11671439	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17846842	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356230	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28746190	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090721	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36058450	0.92[ASN][1000 genomes]
rs3730052	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730055	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730262	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs41275746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275748	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275750	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45497695	0.83[EUR][1000 genomes]
rs56672337	0.83[EUR][1000 genomes]
rs59058760	0.83[EUR][1000 genomes]
rs59106111	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66623822	0.83[EUR][1000 genomes]
rs67587726	0.83[EUR][1000 genomes]
rs7247515	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252506	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73933218	0.92[ASN][1000 genomes]
rs73933225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933232	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933236	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933237	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933238	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933240	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73933241	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs873143	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	chr19:40737600-40751200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:40738000-40751600	Strong transcription	Dnd41	blood
5	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:40738200-40756200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr19:40738800-40750800	Weak transcription	Fetal Heart	heart
8	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:40739000-40751200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:40739200-40750200	Strong transcription	Fetal Stomach	stomach
11	chr19:40739200-40750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:40739200-40750800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:40739200-40751200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:40739200-40751600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:40739200-40758400	Strong transcription	Fetal Intestine Small	intestine
16	chr19:40741200-40750200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:40741600-40761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:40743200-40760800	Weak transcription	HMEC	breast
19	chr19:40744400-40751000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:40745800-40751000	Weak transcription	NHDF-Ad	bronchial
21	chr19:40745800-40760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:40746400-40750800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:40746400-40760800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:40746600-40758000	Weak transcription	K562	blood
25	chr19:40746800-40750600	Weak transcription	HSMMtube	muscle
26	chr19:40747200-40759400	Weak transcription	Hela-S3	cervix
27	chr19:40747200-40760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:40747400-40750600	Weak transcription	Fetal Kidney	kidney
29	chr19:40747400-40750800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:40747400-40755600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:40747400-40755600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:40747400-40757600	Weak transcription	HSMM	muscle
33	chr19:40747400-40759200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:40747600-40750400	Enhancers	Ovary	ovary
35	chr19:40747600-40753200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:40747600-40757400	Weak transcription	Primary B cells from cord blood	blood
37	chr19:40747800-40752800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr19:40748000-40754000	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:40748000-40755400	Weak transcription	Fetal Lung	lung
40	chr19:40748200-40753400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:40748200-40753800	Enhancers	Adipose Nuclei	Adipose
42	chr19:40748200-40757600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:40748200-40758200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:40748400-40750600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:40748400-40750800	Weak transcription	NHEK	skin
46	chr19:40748400-40755400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:40748400-40755600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:40748400-40758400	Weak transcription	Osteobl	bone
49	chr19:40748400-40761000	Weak transcription	Small Intestine	intestine
50	chr19:40748600-40750400	Weak transcription	Duodenum Mucosa	Duodenum

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