Variant report

Variant	rs59106111
Chromosome Location	chr19:40786247-40786248
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	ZNF263	chr19:40785485-40787027	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr19:40786113-40786988	GM12878	blood:	n/a	n/a
3	SPI1	chr19:40786187-40786393	K562	blood:	n/a	n/a
4	SPI1	chr19:40785944-40786693	GM12878	blood:	n/a	chr19:40786174-40786187
5	ELF1	chr19:40784800-40786773	GM12878	blood:	n/a	chr19:40785706-40785719
6	WRNIP1	chr19:40786244-40786687	GM12878	blood:	n/a	n/a
7	RUNX3	chr19:40786009-40786462	GM12878	blood:	n/a	n/a
8	MXI1	chr19:40786194-40786764	GM12878	blood:	n/a	n/a
9	USF2	chr19:40786214-40786357	GM12878	blood:	n/a	n/a
10	REST	chr19:40784619-40787303	PANC-1	pancreas:	n/a	chr19:40785994-40786004 chr19:40785201-40785214 chr19:40787050-40787063 chr19:40786402-40786415 chr19:40784931-40784941 chr19:40787050-40787063
11	SPI1	chr19:40786090-40786570	HL-60	blood:	n/a	chr19:40786174-40786187
12	POLR2A	chr19:40785650-40786251	K562	blood:	n/a	n/a
13	POLR2A	chr19:40786204-40786990	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:40785942-40786935	SK-N-MC	brain:	n/a	n/a
15	SPI1	chr19:40786148-40786452	GM12878	blood:	n/a	chr19:40786174-40786187
16	RUNX3	chr19:40785963-40786484	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a
18	SPI1	chr19:40786142-40786498	GM12891	blood:	n/a	chr19:40786174-40786187
19	POLR2A	chr19:40786135-40787062	HepG2	liver:	n/a	n/a
20	PAX5	chr19:40786179-40786485	GM12878	blood:	n/a	n/a
21	EP300	chr19:40786160-40786343	GM12878	blood:	n/a	n/a
22	SPI1	chr19:40786209-40786405	GM12878	blood:	n/a	n/a
23	BHLHE40	chr19:40786194-40786488	GM12878	blood:	n/a	n/a
24	NFATC1	chr19:40786016-40786656	GM12878	blood:	n/a	n/a
25	SPI1	chr19:40786116-40786529	GM12891	blood:	n/a	chr19:40786174-40786187
26	NFATC1	chr19:40786091-40786451	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:40786046-40786986	GM12892	blood:	n/a	n/a
28	POLR2A	chr19:40785547-40787214	K562	blood:	n/a	n/a
29	POLR2A	chr19:40785969-40786948	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:40785526-40787211	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40768260..40771807-chr19:40783478..40786593,4	K562	blood:
2	chr19:40783887..40786272-chr19:41107076..41108731,2	K562	blood:
3	chr19:40776468..40779839-chr19:40784717..40787633,5	MCF-7	breast:

Variant related genes	Relation type
AKT2	TF binding region
ENSG00000205041	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11665880	0.83[EUR][1000 genomes]
rs11666690	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666860	0.82[EUR][1000 genomes]
rs11667443	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11667768	0.84[EUR][1000 genomes]
rs11667774	0.84[EUR][1000 genomes]
rs11668006	0.85[EUR][1000 genomes]
rs11668520	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11669006	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11669332	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11670323	0.87[EUR][1000 genomes]
rs11670860	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11670912	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671439	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17846842	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2356230	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28746190	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35090721	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3730052	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3730055	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs41275746	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41275748	0.82[EUR][1000 genomes]
rs41275750	0.85[EUR][1000 genomes]
rs45497695	0.92[EUR][1000 genomes]
rs56672337	0.92[EUR][1000 genomes]
rs58094119	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59058760	0.92[EUR][1000 genomes]
rs6508937	0.87[EUR][1000 genomes]
rs66623822	0.92[EUR][1000 genomes]
rs67587726	0.92[EUR][1000 genomes]
rs7245751	0.87[EUR][1000 genomes]
rs7247515	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7249819	0.84[EUR][1000 genomes]
rs7252506	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73933225	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73933232	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933236	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933237	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933238	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73933240	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73933241	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8105478	0.87[EUR][1000 genomes]
rs873143	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs874269	0.82[AMR][1000 genomes];0.82[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	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
7	esv1797453	chr19:40780963-40786797	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1005660	chr19:40784738-40790835	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 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	chr19:40766200-40788600	Weak transcription	HSMMtube	muscle
2	chr19:40770000-40789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:40770000-40789600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:40770200-40789600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:40770200-40790200	Weak transcription	Aorta	Aorta
6	chr19:40771400-40789400	Weak transcription	HUVEC	blood vessel
7	chr19:40776000-40787400	Weak transcription	A549	lung
8	chr19:40778000-40786400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:40778800-40787600	Weak transcription	Hela-S3	cervix
10	chr19:40779000-40786800	Weak transcription	Dnd41	blood
11	chr19:40779400-40789600	Enhancers	Left Ventricle	heart
12	chr19:40779800-40789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:40781000-40787800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:40781400-40788000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:40781400-40788000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr19:40781600-40787400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:40782200-40789400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:40782800-40786800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:40783000-40788200	Enhancers	Pancreas	Pancrea
20	chr19:40783000-40789600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:40783200-40787000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:40783200-40787400	Enhancers	Fetal Intestine Large	intestine
23	chr19:40783200-40787600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:40783200-40788200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr19:40783200-40789200	Enhancers	Brain Cingulate Gyrus	brain
26	chr19:40783400-40786600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:40783400-40787400	Enhancers	Lung	lung
28	chr19:40783400-40788000	Enhancers	Brain Anterior Caudate	brain
29	chr19:40783400-40788400	Enhancers	Brain Substantia Nigra	brain
30	chr19:40783400-40790000	Enhancers	Right Atrium	heart
31	chr19:40783600-40787000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:40783600-40787000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr19:40783600-40787200	Enhancers	Placenta	Placenta
34	chr19:40783600-40787400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:40783600-40787400	Enhancers	Fetal Heart	heart
36	chr19:40783600-40788000	Enhancers	Brain Angular Gyrus	brain
37	chr19:40783800-40787200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr19:40783800-40787600	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:40783800-40788000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:40783800-40790600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:40784000-40786800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
42	chr19:40784000-40787000	Enhancers	Primary hematopoietic stem cells	blood
43	chr19:40784000-40787000	Enhancers	Spleen	Spleen
44	chr19:40784000-40787800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:40784200-40786400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr19:40784200-40787000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr19:40784200-40787600	Enhancers	Primary B cells from cord blood	blood
48	chr19:40784200-40788000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr19:40784200-40788200	Enhancers	Psoas Muscle	Psoas
50	chr19:40784400-40786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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