Variant report

Variant	rs62124917
Chromosome Location	chr19:21325750-21325751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21325138..21326653-chr19:21327405..21328910,2	K562	blood:
2	chr14:39639460..39640068-chr19:21325033..21325860,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11672526	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25760	0.84[ASN][1000 genomes]
rs29701	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29702	0.83[EUR][1000 genomes]
rs29704	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29706	0.83[EUR][1000 genomes]
rs29709	0.82[EUR][1000 genomes]
rs29710	0.83[EUR][1000 genomes]
rs29711	0.83[EUR][1000 genomes]
rs29712	0.82[EUR][1000 genomes]
rs29713	0.83[EUR][1000 genomes]
rs29714	0.83[EUR][1000 genomes]
rs29716	0.82[EUR][1000 genomes]
rs29717	0.82[EUR][1000 genomes]
rs29721	0.83[EUR][1000 genomes]
rs29723	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29724	0.89[ASN][1000 genomes]
rs29726	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs29727	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs29730	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459620	0.82[EUR][1000 genomes]
rs466262	0.82[EUR][1000 genomes]
rs467187	0.82[EUR][1000 genomes]
rs62124923	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62124924	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259520	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026700	0.95[ASN][1000 genomes]
rs73028504	0.95[ASN][1000 genomes]
rs8101995	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630897	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62124917	ZNF708	cis	lung	GTEx
rs62124917	ZNF708	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21324400-21325800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr19:21324400-21325800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:21324400-21325800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:21324400-21325800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:21324400-21325800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:21324400-21325800	Active TSS	Fetal Kidney	kidney
7	chr19:21324400-21325800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:21324400-21325800	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr19:21324400-21325800	Active TSS	NH-A	brain
10	chr19:21324400-21326000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:21324400-21326000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:21324400-21326000	Active TSS	Aorta	Aorta
13	chr19:21324400-21326000	Active TSS	Brain Cingulate Gyrus	brain
14	chr19:21324400-21326000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:21324400-21326000	Active TSS	GM12878-XiMat	blood
16	chr19:21324400-21326200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:21324400-21326200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:21324400-21326200	Active TSS	Fetal Brain Female	brain
19	chr19:21324400-21326200	Active TSS	Ovary	ovary
20	chr19:21324400-21326200	Active TSS	K562	blood
21	chr19:21324600-21325800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:21324600-21325800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:21324600-21325800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:21324600-21325800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:21324600-21325800	Active TSS	Liver	Liver
26	chr19:21324600-21325800	Active TSS	Brain Substantia Nigra	brain
27	chr19:21324600-21325800	Active TSS	Fetal Brain Male	brain
28	chr19:21324600-21325800	Active TSS	Fetal Muscle Trunk	muscle
29	chr19:21324600-21325800	Active TSS	Hela-S3	cervix
30	chr19:21324600-21325800	Active TSS	HSMM	muscle
31	chr19:21324600-21325800	Active TSS	NHDF-Ad	bronchial
32	chr19:21324600-21326000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:21324600-21326000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:21324600-21326000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:21324600-21326000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:21324600-21326000	Active TSS	Duodenum Mucosa	Duodenum
37	chr19:21324600-21326000	Active TSS	Fetal Intestine Small	intestine
38	chr19:21324600-21326000	Active TSS	Pancreas	Pancrea
39	chr19:21324600-21326000	Active TSS	A549	lung
40	chr19:21324600-21326000	Active TSS	NHLF	lung
41	chr19:21324600-21326200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:21324600-21326200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr19:21324600-21326200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr19:21324600-21326200	Active TSS	HSMMtube	muscle
45	chr19:21324600-21326600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr19:21324600-21326600	Active TSS	Esophagus	oesophagus
47	chr19:21324800-21325800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr19:21324800-21325800	Active TSS	Fetal Thymus	thymus
49	chr19:21324800-21326000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:21324800-21326000	Active TSS	Right Ventricle	heart

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