Variant report

Variant	rs2267572
Chromosome Location	chr19:35763363-35763364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:35763245-35763542	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:35763098-35763557	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:35762286-35764286	K562	blood:	n/a	n/a
4	SPI1	chr19:35763347-35763513	K562	blood:	n/a	n/a
5	RUNX3	chr19:35763327-35763683	GM12878	blood:	n/a	n/a
6	RUNX3	chr19:35763285-35763719	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:35762975-35763708	K562	blood:	n/a	n/a
8	SPI1	chr19:35763244-35763536	HL-60	blood:	n/a	n/a
9	ELF1	chr19:35763165-35763662	GM12878	blood:	n/a	n/a
10	SPI1	chr19:35763239-35763574	GM12878	blood:	n/a	n/a
11	YY1	chr19:35763217-35763490	GM12891	blood:	n/a	n/a
12	SPI1	chr19:35763232-35763546	GM12891	blood:	n/a	n/a
13	YY1	chr19:35763206-35763517	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:35763003-35763843	HL-60	blood:	n/a	n/a
15	MAZ	chr19:35763358-35763553	GM12878	blood:	n/a	n/a
16	SPI1	chr19:35763170-35763651	HL-60	blood:	n/a	chr19:35763591-35763604
17	POLR2A	chr19:35762843-35763899	K562	blood:	n/a	n/a
18	YY1	chr19:35763320-35763542	GM12892	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35763154..35765323-chr19:36201276..36203802,2	K562	blood:
2	chr19:35755149..35764508-chr19:35799437..35813142,44	MCF-7	breast:
3	chr19:35761264..35763399-chr19:35801388..35804082,2	K562	blood:
4	chr19:35758781..35763844-chr19:35840402..35843897,5	K562	blood:
5	chr19:35757352..35763490-chr19:35798817..35804347,10	MCF-7	breast:

No data

Variant related genes	Relation type
USF2	TF binding region
ENSG00000012124	Chromatin interaction
ENSG00000126266	Chromatin interaction
ENSG00000105695	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11671613	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2519959	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2519960	0.82[AMR][1000 genomes]
rs7251432	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active 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	67 gene(s)	inside rSNPs	diseases
7	nsv911618	chr19:35734107-35807845	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	esv1836312	chr19:35741456-35786868	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	n/a
9	nsv911619	chr19:35749563-35775441	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
10	nsv911620	chr19:35752917-35771382	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
11	nsv911621	chr19:35752917-35772471	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
12	nsv911622	chr19:35752917-35773146	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
13	nsv911623	chr19:35752917-35775441	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	n/a
14	nsv911624	chr19:35759043-35771382	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	n/a
15	nsv579396	chr19:35759517-35763696	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35761000-35763800	Genic enhancers	Primary B cells from cord blood	blood
2	chr19:35761000-35763800	Genic enhancers	Spleen	Spleen
3	chr19:35761000-35764400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr19:35761000-35764400	Genic enhancers	Adipose Nuclei	Adipose
5	chr19:35761000-35765800	Genic enhancers	Placenta	Placenta
6	chr19:35761000-35770400	Weak transcription	HSMM	muscle
7	chr19:35761200-35763400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:35761200-35764200	Genic enhancers	Pancreas	Pancrea
9	chr19:35761200-35764800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:35761200-35765000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:35761200-35765000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr19:35761200-35765000	Strong transcription	NHLF	lung
13	chr19:35761200-35765400	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr19:35761200-35765800	Strong transcription	Aorta	Aorta
15	chr19:35761200-35766600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:35761200-35767800	Strong transcription	Osteobl	bone
17	chr19:35761200-35770200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:35761200-35770400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:35761200-35770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:35761200-35770600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:35761200-35772200	Weak transcription	Psoas Muscle	Psoas
22	chr19:35761400-35763400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:35761400-35763400	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr19:35761400-35763600	Strong transcription	Fetal Kidney	kidney
25	chr19:35761400-35763600	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr19:35761400-35763800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:35761400-35764000	Weak transcription	Right Atrium	heart
28	chr19:35761400-35764400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:35761400-35764400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr19:35761400-35764800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:35761400-35764800	Genic enhancers	Brain Hippocampus Middle	brain
32	chr19:35761400-35765000	Strong transcription	Esophagus	oesophagus
33	chr19:35761400-35765200	Strong transcription	NHEK	skin
34	chr19:35761400-35765400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:35761400-35765600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:35761400-35765800	Strong transcription	Fetal Lung	lung
37	chr19:35761400-35766000	Strong transcription	A549	lung
38	chr19:35761400-35767800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:35761400-35768200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:35761400-35768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:35761400-35769200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:35761400-35769800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:35761400-35770000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:35761400-35770200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:35761400-35770200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr19:35761400-35770200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:35761400-35770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:35761400-35770400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr19:35761400-35770600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:35761400-35770800	Strong transcription	Cortex derived primary cultured neurospheres	brain

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