Variant report

Variant	rs56696160
Chromosome Location	chr19:40284166-40284167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40282440..40284866-chr19:40332192..40334772,3	K562	blood:
2	chr19:40283744..40284259-chr19:40332977..40333727,2	K562	blood:
3	chr19:40276822..40278831-chr19:40283845..40285832,2	K562	blood:
4	chr19:40283432..40284233-chr19:40334291..40335341,3	MCF-7	breast:
5	chr19:40283040..40287164-chr19:40335990..40338148,3	MCF-7	breast:
6	chr19:40283625..40284290-chr19:40332717..40333386,3	MCF-7	breast:
7	chr19:40283298..40284231-chr19:40334333..40335337,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105202	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8104732	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1059691	chr19:40168862-40306373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv544005	chr19:40168862-40306373	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3332670	chr19:40181720-40297955	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40283400-40284200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:40283600-40284200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:40283600-40284200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:40283600-40284200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:40283600-40284200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:40283600-40284200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:40283600-40284200	Active TSS	Primary B cells from cord blood	blood
8	chr19:40283600-40284200	Active TSS	Primary T cells from cord blood	blood
9	chr19:40283600-40284200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr19:40283600-40284200	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr19:40283600-40284200	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr19:40283600-40284200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:40283600-40284200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:40283600-40284200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:40283600-40284200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:40283600-40284200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr19:40283600-40284200	Active TSS	Adipose Nuclei	Adipose
18	chr19:40283600-40284200	Active TSS	Brain Cingulate Gyrus	brain
19	chr19:40283600-40284200	Active TSS	Brain Germinal Matrix	brain
20	chr19:40283600-40284200	Active TSS	Brain Substantia Nigra	brain
21	chr19:40283600-40284200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr19:40283600-40284200	Active TSS	Stomach Smooth Muscle	stomach
23	chr19:40283600-40284200	Active TSS	HepG2	liver
24	chr19:40283600-40284400	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr19:40283800-40284200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr19:40283800-40284200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:40283800-40284200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:40283800-40284200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:40283800-40284200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:40283800-40284200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr19:40283800-40284200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:40283800-40284200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:40283800-40284200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:40283800-40284200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:40283800-40284200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:40283800-40284200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:40283800-40284200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:40283800-40284200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:40283800-40284200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr19:40283800-40284200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr19:40283800-40284200	Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr19:40283800-40284200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr19:40283800-40284200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:40283800-40284200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:40283800-40284200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr19:40283800-40284200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:40283800-40284200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:40283800-40284200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:40283800-40284200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:40283800-40284200	Active TSS	Brain Angular Gyrus	brain

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