Variant report

Variant	rs2967533
Chromosome Location	chr19:36941144-36941145
allele	C/T
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	ZNF274	chr19:36938758-36941389	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36940091..36943076-chr19:37061156..37065481,3	K562	blood:

Variant related genes	Relation type
ZNF566	TF binding region
ENSG00000186020	Chromatin interaction
ENSG00000233527	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1878927	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385796	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912411	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912420	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2912421	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912422	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2912426	0.81[ASN][1000 genomes]
rs2912428	0.94[JPT][hapmap];0.97[YRI][hapmap]
rs2912437	0.81[JPT][hapmap]
rs2945946	0.81[JPT][hapmap]
rs2945954	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945970	1.00[CEU][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2945975	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2945979	0.94[JPT][hapmap];0.93[YRI][hapmap]
rs2945982	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2945987	0.81[ASN][1000 genomes]
rs2945988	0.94[JPT][hapmap];0.93[YRI][hapmap]
rs2967432	0.87[ASN][1000 genomes]
rs2967434	0.83[ASN][1000 genomes]
rs2967449	0.81[JPT][hapmap]
rs2967451	0.83[CHB][hapmap]
rs2967456	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2967467	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967468	0.84[ASN][1000 genomes]
rs2967474	0.81[ASN][1000 genomes]
rs2967475	0.89[ASN][1000 genomes]
rs2967505	0.81[JPT][hapmap]
rs2967529	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2967532	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967542	0.82[ASN][1000 genomes]
rs2967544	0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3107237	0.94[JPT][hapmap];0.93[YRI][hapmap]
rs6510545	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1066026	chr19:36878441-36947928	ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1067101	chr19:36901010-36956251	ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36931800-36946800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:36934200-36950000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:36934400-36944000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:36934400-36946600	ZNF genes & repeats	Liver	Liver
5	chr19:36936000-36950000	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:36936200-36942600	ZNF genes & repeats	Fetal Brain Male	brain
7	chr19:36936200-36943600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr19:36936200-36949600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:36936400-36943600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr19:36936400-36943600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
11	chr19:36936400-36946600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:36936800-36943800	ZNF genes & repeats	A549	lung
14	chr19:36936800-36944200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:36937200-36943600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:36937600-36942600	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr19:36937600-36943000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr19:36937800-36943400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:36937800-36943600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chr19:36937800-36944200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:36938000-36943600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
22	chr19:36938000-36943800	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr19:36938000-36946600	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr19:36938200-36941200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:36938200-36942600	ZNF genes & repeats	HSMM	muscle
26	chr19:36938200-36943600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr19:36938200-36943800	ZNF genes & repeats	Dnd41	blood
28	chr19:36938200-36944000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:36938200-36944200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:36938200-36946000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr19:36938200-36947200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr19:36938200-36952200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:36938400-36942600	ZNF genes & repeats	NH-A	brain
34	chr19:36938400-36942800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr19:36938400-36943600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:36938400-36946000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:36938400-36946400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr19:36938400-36946600	ZNF genes & repeats	Fetal Lung	lung
39	chr19:36938400-36951200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:36938600-36942400	ZNF genes & repeats	Fetal Heart	heart
41	chr19:36938600-36942600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr19:36938600-36942600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr19:36938600-36942600	ZNF genes & repeats	NHDF-Ad	bronchial
44	chr19:36938600-36943400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr19:36938600-36943600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:36938600-36943600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr19:36938600-36944200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr19:36938600-36946400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:36938600-36946600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
50	chr19:36938800-36942600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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