Variant report

Variant	rs523509
Chromosome Location	chr19:56168524-56168525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr19:56168267-56168821	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:56168112-56168822	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:56168119-56168815	HepG2	liver:	n/a	n/a
4	MYC	chr19:56167880-56169282	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr19:56168061-56169062	GM12878	blood:	n/a	n/a
6	MYC	chr19:56167951-56168574	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr19:56164941-56169020	GM12878	blood:	n/a	n/a
8	MTA3	chr19:56167947-56168817	GM12878	blood:	n/a	n/a
9	NFYB	chr19:56168261-56168691	GM12878	blood:	n/a	n/a
10	NFYB	chr19:56168308-56168648	K562	blood:	n/a	n/a
11	MAX	chr19:56168401-56168892	K562	blood:	n/a	n/a
12	WRNIP1	chr19:56166793-56170333	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:56164851-56170437	PANC-1	pancreas:	n/a	n/a
14	MAFK	chr19:56168479-56168568	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:56168222-56169398	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr19:56167935-56168674	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:56164956-56169503	K562	blood:	n/a	n/a
18	POLR2A	chr19:56167955-56169676	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:56166277-56169272	GM12878	blood:	n/a	n/a
20	STAT1	chr19:56168168-56168599	GM12878	blood:	n/a	chr19:56168527-56168538
21	RUNX3	chr19:56168362-56168821	GM12878	blood:	n/a	n/a
22	PML	chr19:56168096-56168724	GM12878	blood:	n/a	n/a
23	CHD1	chr19:56167921-56168644	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:56164926-56168745	GM12891	blood:	n/a	n/a
25	RUNX3	chr19:56168002-56168793	GM12878	blood:	n/a	n/a
26	JUN	chr19:56164949-56168739	K562	blood:	n/a	chr19:56165258-56165272 chr19:56166577-56166586
27	POLR2A	chr19:56164827-56168951	SK-N-MC	brain:	n/a	n/a
28	CHD1	chr19:56166327-56168561	IMR90	lung:	n/a	n/a
29	MXI1	chr19:56164856-56169392	SK-N-SH	brain:	n/a	chr19:56165279-56165294 chr19:56166760-56166769 chr19:56165281-56165296 chr19:56166762-56166771
30	POLR2A	chr19:56168085-56168978	GM12892	blood:	n/a	n/a
31	POLR2A	chr19:56168475-56168831	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:56168362-56169042	K562	blood:	n/a	n/a
33	MXI1	chr19:56167921-56169134	GM12878	blood:	n/a	n/a
34	EBF1	chr19:56168357-56168743	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:56167974-56169193	GM12892	blood:	n/a	n/a
36	TCF7L2	chr19:56168300-56168630	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr19:56168449-56168781	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:54974496..54976652-chr19:56167995..56170937,2	MCF-7	breast:
2	chr19:56164975..56168855-chr19:56176069..56182259,9	MCF-7	breast:
3	chr19:56165463..56168899-chr19:56631045..56633379,3	K562	blood:
4	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
5	chr19:56167793..56169420-chr19:56762867..56764897,2	K562	blood:
6	chr19:56165703..56169980-chr19:56194386..56196896,5	MCF-7	breast:
7	chr19:55997140..55998839-chr19:56168520..56170217,2	MCF-7	breast:
8	chr19:55627421..55629071-chr19:56166474..56168541,2	MCF-7	breast:
9	chr19:55850613..55852119-chr19:56166654..56168818,2	K562	blood:
10	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:
11	chr19:56110428..56112493-chr19:56168408..56170811,2	MCF-7	breast:

No data

Variant related genes	Relation type
U2AF2	TF binding region
ENSG00000267096	Chromatin interaction
ENSG00000211571	Chromatin interaction
ENSG00000133247	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000267531	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000182909	Chromatin interaction
ENSG00000142409	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000179943	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10402618	0.90[ASN][1000 genomes]
rs10403866	0.82[ASN][1000 genomes]
rs10410802	0.85[ASN][1000 genomes]
rs10415521	0.85[ASN][1000 genomes]
rs10417539	0.82[ASN][1000 genomes]
rs11882031	0.85[ASN][1000 genomes]
rs2280255	0.93[ASN][1000 genomes]
rs2287791	0.92[ASN][1000 genomes]
rs28375493	0.88[ASN][1000 genomes]
rs28385383	0.85[ASN][1000 genomes]
rs28595590	0.85[ASN][1000 genomes]
rs28668166	0.82[ASN][1000 genomes]
rs310437	0.88[ASN][1000 genomes]
rs310441	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs310472	0.88[ASN][1000 genomes]
rs310473	0.85[ASN][1000 genomes]
rs3745446	0.95[ASN][1000 genomes]
rs3826757	0.82[ASN][1000 genomes]
rs4801526	0.95[ASN][1000 genomes]
rs575274	0.81[ASN][1000 genomes]
rs57544196	0.82[ASN][1000 genomes]
rs584405	0.93[ASN][1000 genomes]
rs617073	0.93[ASN][1000 genomes]
rs648651	0.88[ASN][1000 genomes]
rs681804	0.93[ASN][1000 genomes]
rs73613281	0.82[ASN][1000 genomes]
rs8100143	0.85[ASN][1000 genomes]
rs8104242	0.84[ASN][1000 genomes]
rs8109983	0.84[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	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
7	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56166400-56168800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr19:56166600-56168800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr19:56166600-56168800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:56166800-56169400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr19:56167000-56168600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:56167000-56169000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr19:56167000-56169200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:56167000-56169200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:56167000-56169200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr19:56167000-56169200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr19:56167000-56169200	Transcr. at gene 5' and 3'	A549	lung
12	chr19:56167000-56169400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr19:56167000-56169400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr19:56167000-56169400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr19:56167000-56169400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr19:56167000-56169400	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr19:56167000-56169400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr19:56167000-56169400	Transcr. at gene 5' and 3'	K562	blood
19	chr19:56167000-56170200	Transcr. at gene 5' and 3'	Dnd41	blood
20	chr19:56167200-56168600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
21	chr19:56167200-56168600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
22	chr19:56167200-56168800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr19:56167200-56169000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:56167200-56169000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:56167200-56169000	Flanking Active TSS	Colonic Mucosa	Colon
26	chr19:56167200-56169000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr19:56167200-56169000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
28	chr19:56167200-56169000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr19:56167200-56169200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr19:56167200-56169200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:56167200-56169200	Transcr. at gene 5' and 3'	NHEK	skin
32	chr19:56167200-56169400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr19:56167200-56169400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr19:56167200-56169400	Flanking Active TSS	HUVEC	blood vessel
35	chr19:56167200-56169400	Flanking Active TSS	NH-A	brain
36	chr19:56167200-56169400	Flanking Active TSS	Osteobl	bone
37	chr19:56167200-56169600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:56167200-56169600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:56167200-56169600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:56167200-56169600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr19:56167200-56169600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr19:56167200-56170200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
43	chr19:56167400-56168600	Transcr. at gene 5' and 3'	HSMM	muscle
44	chr19:56167400-56168800	Flanking Active TSS	Fetal Brain Female	brain
45	chr19:56167400-56168800	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr19:56167400-56168800	Flanking Active TSS	Stomach Mucosa	stomach
47	chr19:56167400-56169000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:56167400-56169000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
49	chr19:56167400-56169200	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr19:56167400-56169200	Flanking Active TSS	Thymus	Thymus

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