Variant report

Variant	rs28746190
Chromosome Location	chr19:40743366-40743367
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	REST	chr19:40743359-40746123	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40730680..40732953-chr19:40742312..40745155,2	K562	blood:
2	chr19:40736321..40741961-chr19:40743077..40747922,9	K562	blood:
3	chr19:40730620..40735723-chr19:40738673..40743679,8	MCF-7	breast:

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

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11666690	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11667443	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11668520	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11669006	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11669332	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11670860	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670912	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11671439	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17846842	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356230	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35090721	0.82[AMR][1000 genomes]
rs36058450	0.92[ASN][1000 genomes]
rs3730052	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730055	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730262	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41275746	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275748	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275750	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45497695	0.81[EUR][1000 genomes]
rs56672337	0.81[EUR][1000 genomes]
rs58094119	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59058760	0.81[EUR][1000 genomes]
rs59106111	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66623822	0.81[EUR][1000 genomes]
rs67587726	0.81[EUR][1000 genomes]
rs7247515	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252506	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73933218	0.92[ASN][1000 genomes]
rs73933225	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73933232	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933236	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933237	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933238	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73933240	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73933241	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs873143	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874269	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	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

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	chr19:40738000-40744200	Strong transcription	Brain Anterior Caudate	brain
8	chr19:40738000-40746600	Strong transcription	Ovary	ovary
9	chr19:40738000-40747000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:40738000-40748600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr19:40738000-40748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:40738000-40749000	Strong transcription	Thymus	Thymus
13	chr19:40738000-40751600	Strong transcription	Dnd41	blood
14	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:40738200-40744000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:40738200-40745000	Weak transcription	HSMM	muscle
17	chr19:40738200-40748200	Strong transcription	Pancreas	Pancrea
18	chr19:40738200-40748600	Strong transcription	NHLF	lung
19	chr19:40738200-40748800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:40738200-40749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:40738200-40756200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:40738400-40745000	Weak transcription	NHDF-Ad	bronchial
23	chr19:40738400-40746800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:40738400-40749400	Strong transcription	Fetal Thymus	thymus
25	chr19:40738400-40749600	Strong transcription	Fetal Brain Female	brain
26	chr19:40738600-40747200	Strong transcription	Brain Cingulate Gyrus	brain
27	chr19:40738600-40747200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:40738600-40747600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:40738600-40747600	Strong transcription	Lung	lung
30	chr19:40738600-40748600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:40738800-40747200	Strong transcription	Brain Hippocampus Middle	brain
32	chr19:40738800-40747600	Weak transcription	Right Atrium	heart
33	chr19:40738800-40748400	Strong transcription	Colonic Mucosa	Colon
34	chr19:40738800-40748600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr19:40738800-40748800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:40738800-40749600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr19:40738800-40750800	Weak transcription	Fetal Heart	heart
38	chr19:40738800-40758000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr19:40739000-40746400	Strong transcription	Brain Angular Gyrus	brain
40	chr19:40739000-40747400	Strong transcription	Right Ventricle	heart
41	chr19:40739000-40747600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40739000-40747600	Strong transcription	Brain Germinal Matrix	brain
43	chr19:40739000-40747600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:40739000-40747600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr19:40739000-40748000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:40739000-40748600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr19:40739000-40748600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:40739000-40748600	Strong transcription	Gastric	stomach
49	chr19:40739000-40749000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:40739000-40749400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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