Variant report

Variant	rs2279413
Chromosome Location	chr19:56614768-56614769
allele	C/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	POLR2A	chr19:56614750-56615029	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56611899..56614833-chr19:56653450..56656107,2	MCF-7	breast:
2	chr19:56612599..56616950-chr19:56825214..56827593,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223060	TF binding region
ENSG00000267549	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000131848	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs514916	0.84[EUR][1000 genomes]
rs516022	0.92[CEU][hapmap]
rs578901	0.82[EUR][1000 genomes]
rs58893103	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59924464	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62122411	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62122445	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62122446	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62122447	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62122448	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62122451	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62122452	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62122455	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72490744	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv912515	chr19:56598829-56623710	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
16	esv1809307	chr19:56604027-56633623	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	esv1811581	chr19:56609313-56631618	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
18	esv1824038	chr19:56610449-56636632	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
2	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:56593000-56616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:56593000-56616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:56593000-56616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:56593600-56616000	Weak transcription	Stomach Mucosa	stomach
8	chr19:56594800-56616800	Weak transcription	HUVEC	blood vessel
9	chr19:56596600-56614800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:56597200-56619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:56599800-56615200	Strong transcription	Liver	Liver
12	chr19:56600000-56619000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:56600800-56616800	Weak transcription	Small Intestine	intestine
14	chr19:56602800-56620000	Weak transcription	NH-A	brain
15	chr19:56603000-56616600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:56603200-56619800	Weak transcription	NHDF-Ad	bronchial
17	chr19:56603800-56616800	Weak transcription	Psoas Muscle	Psoas
18	chr19:56604000-56614800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:56604800-56616200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:56604800-56616800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:56605000-56615000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:56605000-56616400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:56605200-56615000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:56605200-56615000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:56605200-56617000	Weak transcription	Brain Angular Gyrus	brain
26	chr19:56605200-56619800	Weak transcription	HSMM	muscle
27	chr19:56605200-56620000	Weak transcription	Fetal Kidney	kidney
28	chr19:56605400-56615000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:56605600-56615000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:56605600-56615000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:56606000-56615800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:56606200-56615000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:56606200-56615200	Strong transcription	Colonic Mucosa	Colon
34	chr19:56606200-56615200	Strong transcription	Thymus	Thymus
35	chr19:56606400-56615200	Strong transcription	Esophagus	oesophagus
36	chr19:56606400-56615200	Strong transcription	A549	lung
37	chr19:56606400-56616600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:56607000-56615000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:56608000-56615200	Genic enhancers	Spleen	Spleen
40	chr19:56608200-56615000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:56608200-56615000	Strong transcription	Dnd41	blood
42	chr19:56608200-56615200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:56608200-56618600	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr19:56608800-56615000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:56609000-56616000	Weak transcription	Right Atrium	heart
46	chr19:56609200-56614800	Strong transcription	Ovary	ovary
47	chr19:56609200-56615000	Strong transcription	Placenta	Placenta
48	chr19:56609600-56614800	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:56609600-56619600	Weak transcription	Fetal Heart	heart
50	chr19:56609800-56615000	Strong transcription	Adipose Nuclei	Adipose

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