Variant report

Variant	rs4803322
Chromosome Location	chr19:40767085-40767086
allele	C/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	ZNF263	chr19:40766879-40767232	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr19:40731149-40781638	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40766133..40769095-chr19:40773189..40775084,2	K562	blood:
2	chr19:40763181..40767170-chr19:40767340..40771711,5	K562	blood:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10419783	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10424645	1.00[AMR][1000 genomes]
rs3745196	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4239505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4239507	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4273150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4525604	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803321	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8103643	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103796	1.00[AMR][1000 genomes]
rs8106701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110038	1.00[AMR][1000 genomes]
rs8110995	0.85[ASN][1000 genomes]
rs8111561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
2	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
3	chr19:40759800-40770600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:40759800-40775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:40759800-40780600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:40761800-40768200	Weak transcription	HSMM	muscle
7	chr19:40762000-40779800	Weak transcription	Stomach Mucosa	stomach
8	chr19:40762200-40772200	Weak transcription	NH-A	brain
9	chr19:40762400-40768600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:40762600-40767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:40762600-40768000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:40762600-40768200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:40762600-40768200	Weak transcription	Aorta	Aorta
14	chr19:40762600-40768200	Weak transcription	HUVEC	blood vessel
15	chr19:40762800-40767400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:40762800-40768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:40762800-40768200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:40762800-40768200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:40762800-40768200	Weak transcription	HepG2	liver
20	chr19:40762800-40768400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:40762800-40768400	Weak transcription	Fetal Kidney	kidney
22	chr19:40762800-40777600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:40762800-40780800	Weak transcription	Small Intestine	intestine
24	chr19:40763000-40767400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:40763000-40767600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:40763000-40767600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:40763000-40768000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:40763000-40768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:40763000-40768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:40763000-40768200	Weak transcription	Ovary	ovary
31	chr19:40763000-40768200	Weak transcription	NHDF-Ad	bronchial
32	chr19:40763000-40768400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:40763000-40768400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:40763000-40768400	Weak transcription	Brain Angular Gyrus	brain
35	chr19:40763000-40768400	Weak transcription	Brain Germinal Matrix	brain
36	chr19:40763000-40768400	Weak transcription	Brain Substantia Nigra	brain
37	chr19:40763000-40768400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:40763000-40768600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:40763000-40768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:40763000-40768800	Weak transcription	Fetal Lung	lung
41	chr19:40763000-40769600	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:40763200-40767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:40763200-40768200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:40763200-40768200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:40763200-40768200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:40763200-40768200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:40763200-40768400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:40763200-40768400	Weak transcription	Colonic Mucosa	Colon
49	chr19:40763200-40768400	Weak transcription	Fetal Brain Female	brain
50	chr19:40763200-40768400	Weak transcription	NHLF	lung

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