Variant report

Variant	rs11665759
Chromosome Location	chr19:38039675-38039676
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38039666-38039716	HNPCEpiC	eye:	n/a
2	chr19:38039666-38039716	HEEpiC	esophagus:	n/a
3	chr19:38039666-38039716	SK-N-MC	brain:	n/a
4	chr19:38039666-38039716	HRE	kidney:	n/a
5	chr19:38039666-38039716	Jurkat	blood:	n/a
6	chr19:38039666-38039716	HMEC	breast:	n/a
7	chr19:38039666-38039716	AG10803	skin:	n/a
8	chr19:38039666-38039716	NT2-D1	testis:	n/a
9	chr19:38039666-38039716	ProgFib	skin:	n/a
10	chr19:38039666-38039716	SK-N-SH_RA	brain:	n/a
11	chr19:38039666-38039716	BE2_C	brain:	n/a
12	chr19:38039666-38039716	LNCaP	prostate:	n/a
13	chr19:38039666-38039716	NB4	blood:	n/a
14	chr19:38039666-38039716	HRPEpiC	eye:	n/a
15	chr19:38039666-38039716	HepG2	liver:	n/a
16	chr19:38039666-38039716	HCPEpiC	choroid plexus:	n/a
17	chr19:38039666-38039716	Caco-2	colon:	n/a
18	chr19:38039666-38039716	SAEC	small airway:	n/a
19	chr19:38039666-38039716	NHBE	bronchial:	n/a
20	chr19:38039666-38039716	ECC-1	luminal epithelium:	n/a
21	chr19:38039666-38039716	HRCEpiC	kidney:	n/a
22	chr19:38039666-38039716	SK-N-SH	brain:	n/a
23	chr19:38039666-38039716	SKMC	muscle:	n/a
24	chr19:38039666-38039716	HCM	heart:	n/a
25	chr19:38039666-38039716	A549	lung:	n/a
26	chr19:38039666-38039716	MCF-7	breast:	n/a
27	chr19:38039666-38039716	NHDF-neo	bronchial:	n/a
28	chr19:38039666-38039716	HCT-116	colon:	n/a
29	chr19:38039666-38039716	HL-60	blood:	n/a
30	chr19:38039666-38039716	HEK293	kidney:	embryo
31	chr19:38039666-38039716	BJ	skin:	n/a
32	chr19:38039666-38039716	U87	brain:	n/a
33	chr19:38039666-38039716	H1-hESC	embryonic stem cell:	embryo
34	chr19:38039666-38039716	CMK	blood:	n/a
35	chr19:38039666-38039716	GM12892	blood:	n/a
36	chr19:38039666-38039716	MCF10A-Er-Src	breast:	n/a
37	chr19:38039666-38039716	AG09319	gingival:	n/a
38	chr19:38039666-38039716	Hepatocyte	liver:	n/a
39	chr19:38039666-38039716	GM19239	blood:	n/a
40	chr19:38039666-38039716	HIPEpiC	eye:	n/a
41	chr19:38039666-38039716	HAEpiC	amniotic membrane:	n/a
42	chr19:38039666-38039716	GM06990	blood:	n/a
43	chr19:38039666-38039716	HCF	heart:	n/a
44	chr19:38039666-38039716	Hela-S3	cervix:	n/a
45	chr19:38039666-38039716	IMR90	lung:	fetal
46	chr19:38039666-38039716	PANC-1	pancreas:	n/a
47	chr19:38039666-38039716	AG09309	skin:	n/a
48	chr19:38039666-38039716	AG04450	lung:	fetal
49	chr19:38039666-38039716	AG04449	skin:	fetal
50	chr19:38039666-38039716	GM12878	blood:	n/a

No data

Variant related genes	Relation type
ZNF540	CpG island
ZNF571-AS1	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11083427	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11083428	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11083430	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666662	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666738	0.92[EUR][1000 genomes]
rs12151280	0.91[EUR][1000 genomes]
rs12162238	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12459013	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12462505	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1478462	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17305326	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2045911	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2126976	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2279150	0.86[ASN][1000 genomes]
rs2290999	0.92[EUR][1000 genomes]
rs35205379	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59426132	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7248397	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73031309	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73031321	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73031322	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73031326	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73033117	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73033129	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73033139	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73033145	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73035158	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73035164	0.90[EUR][1000 genomes]
rs73037036	0.92[EUR][1000 genomes];0.83[ASN][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	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
2	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv2478	chr19:38025340-38043818	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38029800-38042000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
3	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:38035000-38042800	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr19:38036600-38041800	ZNF genes & repeats	Fetal Lung	lung
6	chr19:38037800-38042800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
7	chr19:38037800-38043000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:38037800-38043200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:38037800-38043800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:38037800-38045400	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr19:38038000-38041800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:38038000-38042400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr19:38038000-38042600	ZNF genes & repeats	Brain Angular Gyrus	brain
14	chr19:38038000-38042800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:38038000-38042800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
16	chr19:38038000-38043000	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr19:38038000-38078400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:38038600-38042800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:38038600-38042800	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr19:38038600-38079600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr19:38038800-38045600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr19:38039000-38042800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38039000-38043000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:38039200-38042800	ZNF genes & repeats	Esophagus	oesophagus
25	chr19:38039200-38043000	ZNF genes & repeats	Thymus	Thymus
26	chr19:38039400-38042200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:38039400-38042800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:38039400-38042800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:38039400-38042800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:38039600-38042800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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