Variant report

Variant	rs73555594
Chromosome Location	chr19:40776194-40776195
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	chr19:40775474-40776522	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:40775954-40776279	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr19:40776104-40776395	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40770481..40772610-chr19:40774016..40777021,3	K562	blood:
2	chr19:40774152..40777118-chr19:40779107..40782198,3	MCF-7	breast:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000205041	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1972545	1.00[AMR][1000 genomes]
rs56743160	1.00[AMR][1000 genomes]
rs58341807	1.00[AMR][1000 genomes]
rs58675277	1.00[AMR][1000 genomes]
rs61140926	1.00[AMR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7249252	1.00[AMR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73547690	1.00[AMR][1000 genomes]
rs73549813	1.00[AMR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555546	1.00[AMR][1000 genomes]
rs73557743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73557755	1.00[AMR][1000 genomes]
rs73559610	1.00[AMR][1000 genomes]
rs73559649	1.00[AMR][1000 genomes]
rs8107448	1.00[AMR][1000 genomes]
rs8109544	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1063993	chr19:40763787-40781360	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1059884	chr19:40763839-40781360	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1057052	chr19:40776128-40789766	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
3	chr19:40762800-40777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
5	chr19:40763600-40777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40763800-40777600	Weak transcription	Hela-S3	cervix
7	chr19:40763800-40777600	Weak transcription	HMEC	breast
8	chr19:40765400-40777800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
10	chr19:40766800-40776600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:40767000-40776200	Strong transcription	Primary T cells from cord blood	blood
12	chr19:40767600-40779600	Strong transcription	Fetal Stomach	stomach
13	chr19:40767800-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:40768200-40780400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:40769000-40776600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr19:40769000-40778200	Weak transcription	HSMM	muscle
17	chr19:40769000-40779600	Strong transcription	Fetal Intestine Small	intestine
18	chr19:40769400-40777400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:40769600-40776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:40769600-40783600	Weak transcription	Fetal Kidney	kidney
21	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:40770200-40776200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
26	chr19:40770400-40784000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:40771000-40777600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:40771000-40780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:40771000-40780800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:40771000-40783600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:40771200-40776200	Enhancers	Brain Anterior Caudate	brain
32	chr19:40771200-40776200	Weak transcription	Fetal Thymus	thymus
33	chr19:40771200-40776200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr19:40771200-40776400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:40771200-40777600	Weak transcription	Osteobl	bone
36	chr19:40771200-40778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:40771400-40776200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:40771400-40776600	Enhancers	Pancreas	Pancrea
39	chr19:40771400-40776800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:40771400-40778200	Enhancers	Left Ventricle	heart
41	chr19:40771400-40779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
43	chr19:40771600-40778000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:40771600-40780400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:40771600-40786000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr19:40772000-40776800	Enhancers	Brain Cingulate Gyrus	brain
47	chr19:40772000-40778200	Weak transcription	Dnd41	blood
48	chr19:40772200-40776200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:40772400-40776200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:40772400-40776400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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