Variant report

Variant	rs62116828
Chromosome Location	chr19:53466852-53466853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr19:53465568-53467000	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr19:53465524-53466858	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr19:53465695-53466951	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr19:53464878-53467021	IMR90	lung:	n/a	n/a
5	MXI1	chr19:53464749-53467219	SK-N-SH	brain:	n/a	n/a
6	ELF1	chr19:53466563-53466933	GM12878	blood:	n/a	n/a
7	CTCF	chr19:53466682-53466892	GM12878	blood:	n/a	n/a
8	MAZ	chr19:53465379-53466985	IMR90	lung:	n/a	chr19:53465833-53465843 chr19:53466200-53466210 chr19:53466183-53466193
9	MXI1	chr19:53465660-53466962	GM12878	blood:	n/a	n/a
10	SETDB1	chr19:53465676-53466858	K562	blood:	n/a	n/a
11	RAD21	chr19:53466672-53467019	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr19:53465495-53466854	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr19:53466513-53466901	SK-N-SH_RA	brain:	n/a	n/a
14	RAD21	chr19:53466744-53466947	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr19:53466740-53466890	RPTEC	kidney:	n/a	n/a
16	RAD21	chr19:53465465-53466903	IMR90	lung:	n/a	n/a
17	CTCF	chr19:53466801-53466883	Medullo	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53359757..53362433-chr19:53464752..53467349,2	MCF-7	breast:
2	chr19:53465058..53468377-chr19:53495533..53497921,4	K562	blood:
3	chr19:53465551..53467815-chr19:53472678..53475651,2	K562	blood:
4	chr19:53466473..53468381-chr19:53486482..53488386,2	K562	blood:
5	chr19:53424791..53427731-chr19:53464365..53467863,4	K562	blood:
6	chr19:53419434..53421334-chr19:53466679..53469672,2	K562	blood:
7	chr19:53466302..53467987-chr19:53468520..53470453,2	K562	blood:

No data

Variant related genes	Relation type
ZNF321P	TF binding region
ZNF816	TF binding region
ENSG00000204604	Chromatin interaction
ENSG00000198538	Chromatin interaction
ENSG00000269646	Chromatin interaction
ENSG00000242779	Chromatin interaction
ENSG00000213793	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10164358	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10469302	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10469303	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10469304	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608895	0.88[ASN][1000 genomes]
rs12610001	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12972202	0.93[ASN][1000 genomes]
rs12985680	0.93[ASN][1000 genomes]
rs2119866	0.85[ASN][1000 genomes]
rs34433816	0.85[ASN][1000 genomes]
rs56208662	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57858212	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59504178	0.94[ASN][1000 genomes]
rs62116833	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62116834	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62116835	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62116836	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62116837	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62116839	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7256362	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv432072	chr19:53144788-53554388	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3401212	chr19:53151131-53482063	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1058903	chr19:53193570-53489633	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1067280	chr19:53193570-53567287	Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv544062	chr19:53193570-53567287	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv580030	chr19:53194344-53547394	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1057118	chr19:53195426-53480449	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv3431689	chr19:53291230-53483998	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv912330	chr19:53317001-53478109	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1064234	chr19:53346827-53480449	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv963071	chr19:53401720-53480869	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53464800-53467000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr19:53464800-53467000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:53464800-53467000	Active TSS	Muscle Satellite Cultured Cells	--
4	chr19:53464800-53467000	Active TSS	Fetal Intestine Small	intestine
5	chr19:53464800-53467000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr19:53464800-53467000	Active TSS	Right Atrium	heart
7	chr19:53464800-53467000	Active TSS	HSMM	muscle
8	chr19:53464800-53467000	Active TSS	NHDF-Ad	bronchial
9	chr19:53464800-53467200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:53464800-53467200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:53465000-53467000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:53465000-53467200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:53465000-53467200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:53465200-53467000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr19:53465200-53467000	Active TSS	Esophagus	oesophagus
16	chr19:53465200-53467200	Active TSS	NHLF	lung
17	chr19:53465200-53467400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:53465400-53467000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:53465400-53467000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:53465400-53467000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:53465400-53467000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:53465400-53467000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:53465400-53467000	Active TSS	Right Ventricle	heart
24	chr19:53465400-53467000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr19:53465400-53467000	Active TSS	HSMMtube	muscle
26	chr19:53465600-53467000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:53465600-53467000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:53465600-53467000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:53465600-53467000	Active TSS	Thymus	Thymus
30	chr19:53465600-53467200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:53465600-53467200	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr19:53465600-53467200	Active TSS	Rectal Smooth Muscle	rectum
33	chr19:53466000-53467000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:53466400-53467000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr19:53466400-53467000	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr19:53466400-53467000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr19:53466400-53467000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr19:53466400-53467000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr19:53466400-53467000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:53466400-53467000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:53466400-53467000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr19:53466400-53467000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr19:53466400-53467000	Flanking Active TSS	Placenta	Placenta
44	chr19:53466400-53467000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:53466400-53467000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr19:53466400-53467000	Flanking Active TSS	NH-A	brain
47	chr19:53466400-53467200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr19:53466400-53467200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr19:53466400-53467400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:53466600-53467000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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