Variant report

Variant	rs62489319
Chromosome Location	chr8:11562513-11562514
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	MXI1	chr8:11561295-11562513	HepG2	liver:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
2	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:11562496-11563000	Gliobla	brain:	n/a	n/a
4	MXI1	chr8:11560914-11563929	SK-N-SH	brain:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
5	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr8:11562047-11562646	HepG2	liver:	n/a	n/a
7	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
8	ZNF263	chr8:11561630-11563259	HEK293-T-REx	kidney:	n/a	chr8:11562824-11562833
9	RFX5	chr8:11561247-11562677	SK-N-SH	brain:	n/a	chr8:11561976-11561991 chr8:11561680-11561689 chr8:11561676-11561691 chr8:11561981-11561990 chr8:11561976-11561991

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10088151	0.94[ASN][1000 genomes]
rs11777611	0.93[ASN][1000 genomes]
rs11781500	0.89[ASN][1000 genomes]
rs2409813	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28473684	0.89[ASN][1000 genomes]
rs28530664	0.87[ASN][1000 genomes]
rs34888744	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35813172	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269498	0.98[ASN][1000 genomes]
rs4489290	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61277615	0.86[ASN][1000 genomes]
rs6990313	0.94[ASN][1000 genomes]
rs73203483	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817412	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7837066	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
4	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
6	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr8:11559400-11563200	Active TSS	Gastric	stomach
8	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
9	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr8:11560000-11563000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:11560000-11563400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:11560200-11563000	Enhancers	Lung	lung
13	chr8:11560200-11563400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:11560400-11563000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:11560400-11563000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:11560400-11563200	Bivalent/Poised TSS	Stomach Mucosa	stomach
17	chr8:11560400-11568400	Active TSS	Right Atrium	heart
18	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
19	chr8:11560800-11563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:11560800-11564000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:11561000-11562600	Active TSS	Left Ventricle	heart
22	chr8:11561000-11562800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:11561000-11563000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr8:11561000-11563200	Bivalent/Poised TSS	HepG2	liver
25	chr8:11561200-11562800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:11561200-11563000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:11561200-11563200	Active TSS	Pancreas	Pancrea
28	chr8:11561200-11565400	Active TSS	Ovary	ovary
29	chr8:11561400-11563400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:11561400-11563800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr8:11561600-11563000	Active TSS	Liver	Liver
33	chr8:11561600-11563200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
34	chr8:11561600-11563200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:11561800-11562800	Bivalent Enhancer	Colonic Mucosa	Colon
36	chr8:11561800-11562800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr8:11561800-11563000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:11561800-11563000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr8:11561800-11563000	Bivalent Enhancer	HMEC	breast
40	chr8:11561800-11563200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr8:11561800-11563200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:11561800-11563200	Bivalent Enhancer	Spleen	Spleen
43	chr8:11561800-11565400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr8:11562000-11562800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:11562000-11562800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr8:11562000-11563000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:11562000-11563000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:11562000-11563000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr8:11562000-11563000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
50	chr8:11562000-11563000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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