Variant report

Variant	rs4564709
Chromosome Location	chr19:39312908-39312909
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	SP1	chr19:39312458-39313315	A549	lung:	n/a	n/a
2	NFYB	chr19:39312627-39313031	Hela-S3	cervix:	n/a	chr19:39312779-39312794
3	SP1	chr19:39312517-39313219	A549	lung:	n/a	n/a
4	NFYB	chr19:39312618-39313594	K562	blood:	n/a	chr19:39312779-39312794
5	CBX3	chr19:39312673-39313068	K562	blood:	n/a	n/a
6	SP1	chr19:39312565-39313140	GM12878	blood:	n/a	n/a
7	SP1	chr19:39312676-39313183	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:39302778-39313143	PANC-1	pancreas:	n/a	n/a
9	NFYB	chr19:39312642-39313031	GM12878	blood:	n/a	chr19:39312779-39312794

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39307714..39309871-chr19:39312469..39316327,3	K562	blood:

Variant related genes	Relation type
ECH1	TF binding region
ENSG00000104823	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57706590	1.00[EUR][1000 genomes]
rs73552646	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv911670	chr19:39250308-39322087	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
4	nsv911672	chr19:39252238-39318006	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39284000-39318200	Weak transcription	Fetal Kidney	kidney
2	chr19:39296200-39318200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:39296400-39318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:39296400-39318200	Weak transcription	NHEK	skin
5	chr19:39301400-39320200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:39304000-39317600	Weak transcription	HSMMtube	muscle
7	chr19:39304400-39316800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr19:39304400-39321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:39304600-39318200	Weak transcription	Osteobl	bone
10	chr19:39304800-39320800	Weak transcription	HSMM	muscle
11	chr19:39305000-39315000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:39305200-39316000	Strong transcription	Primary T cells from cord blood	blood
13	chr19:39305200-39321600	Strong transcription	Fetal Stomach	stomach
14	chr19:39305400-39315800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:39305400-39321000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:39305600-39314000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:39305600-39314000	Strong transcription	Esophagus	oesophagus
18	chr19:39305600-39314000	Strong transcription	Lung	lung
19	chr19:39305600-39314400	Strong transcription	Thymus	Thymus
20	chr19:39305600-39318800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr19:39305600-39320400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:39305600-39321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:39305800-39313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:39306400-39317800	Weak transcription	Small Intestine	intestine
25	chr19:39307400-39321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:39308000-39313400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:39308000-39317600	Weak transcription	Fetal Thymus	thymus
28	chr19:39308200-39313400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:39308200-39313400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:39308200-39320400	Weak transcription	NHLF	lung
31	chr19:39308400-39314000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:39308400-39315600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:39308400-39318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:39308600-39314600	Weak transcription	Primary B cells from cord blood	blood
35	chr19:39308600-39318000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:39308800-39313400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr19:39308800-39313600	Weak transcription	Brain Substantia Nigra	brain
38	chr19:39308800-39316600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:39308800-39318200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:39309000-39313400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:39309000-39313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:39309000-39313400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:39309000-39313400	Weak transcription	GM12878-XiMat	blood
44	chr19:39309000-39313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:39309000-39318000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:39309000-39318000	Weak transcription	Brain Angular Gyrus	brain
47	chr19:39309000-39318200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:39309000-39320400	Weak transcription	Hela-S3	cervix
49	chr19:39309200-39313400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:39309200-39316600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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