Variant report

Variant	rs34657232
Chromosome Location	chr19:42587759-42587760
allele	A/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	POLR2A	chr19:42587501-42588255	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:42587615-42588280	K562	blood:	n/a	n/a
3	CEBPB	chr19:42587594-42588273	A549	lung:	n/a	chr19:42587925-42587936
4	POLR2A	chr19:42587460-42588149	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:42587722-42588812	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr19:42587464-42588978	GM12878	blood:	n/a	n/a
7	CEBPB	chr19:42587737-42588096	MCF-7	breast:	n/a	chr19:42587925-42587936
8	CEBPB	chr19:42587744-42588100	ECC-1	luminal epithelium:	n/a	chr19:42587925-42587936
9	CEBPB	chr19:42587737-42587998	K562	blood:	n/a	chr19:42587925-42587936

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42585326..42588805-chr19:42593865..42598286,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268525	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35863918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42582000-42587800	Weak transcription	Fetal Kidney	kidney
2	chr19:42582000-42590400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:42582200-42588400	Strong transcription	Lung	lung
4	chr19:42582200-42596000	Weak transcription	Right Atrium	heart
5	chr19:42582200-42597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:42582400-42588200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:42582400-42588400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:42582400-42588800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr19:42582400-42588800	Strong transcription	Fetal Stomach	stomach
10	chr19:42582400-42592800	Weak transcription	HSMMtube	muscle
11	chr19:42582400-42594000	Weak transcription	Fetal Brain Male	brain
12	chr19:42582400-42594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:42582400-42595600	Weak transcription	Fetal Heart	heart
14	chr19:42582400-42595800	Weak transcription	Hela-S3	cervix
15	chr19:42582400-42597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:42582600-42588400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:42582600-42588400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:42582800-42588800	Strong transcription	Thymus	Thymus
19	chr19:42583000-42588400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:42583000-42588800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr19:42583600-42588800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:42583800-42588800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:42584000-42588200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:42584000-42588400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:42584000-42588800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:42585400-42588200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:42585400-42588200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:42585400-42591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:42585600-42588200	Strong transcription	Spleen	Spleen
30	chr19:42585800-42588200	Weak transcription	Psoas Muscle	Psoas
31	chr19:42585800-42588800	Weak transcription	Stomach Mucosa	stomach
32	chr19:42585800-42595600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:42585800-42595800	Weak transcription	Small Intestine	intestine
34	chr19:42586000-42588200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:42586000-42591400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:42586000-42592400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr19:42586000-42592600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:42586000-42592800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:42586000-42594000	Weak transcription	Colonic Mucosa	Colon
40	chr19:42586000-42594800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr19:42586000-42595600	Weak transcription	Gastric	stomach
42	chr19:42586000-42595800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:42586000-42598800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:42586000-42601600	Weak transcription	Pancreas	Pancrea
45	chr19:42586000-42606400	Weak transcription	Liver	Liver
46	chr19:42586200-42590400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:42586200-42591400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:42586200-42592200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:42586200-42592800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:42586200-42592800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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