Variant report

Variant	rs1800590
Chromosome Location	chr8:19796671-19796672
allele	G/T
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	KAP1	chr8:19796546-19797057	HEK293	kidney:	n/a	n/a
2	POLR2A	chr8:19796488-19798169	K562	blood:	n/a	n/a
3	E2F6	chr8:19796587-19798205	H1-hESC	embryonic stem cell:	n/a	chr8:19797370-19797379 chr8:19797046-19797054 chr8:19796852-19796867 chr8:19797440-19797447 chr8:19796855-19796862
4	POLR2A	chr8:19796669-19797033	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr8:19796479-19797432	HL-60	blood:	n/a	n/a
6	TBP	chr8:19796536-19797222	K562	blood:	n/a	n/a
7	TAF1	chr8:19796649-19797654	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr8:19796456-19797489	H1-hESC	embryonic stem cell:	n/a	chr8:19797440-19797447
9	POLR2A	chr8:19796460-19798024	K562	blood:	n/a	n/a
10	POLR2A	chr8:19796453-19796796	K562	blood:	n/a	n/a
11	CTBP2	chr8:19796489-19798092	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr8:19796655-19798201	H1-hESC	embryonic stem cell:	n/a	chr8:19797909-19797919 chr8:19797912-19797919 chr8:19797911-19797920 chr8:19797909-19797924
13	POLR2A	chr8:19796586-19798166	HL-60	blood:	n/a	n/a
14	POLR2A	chr8:19796579-19797110	K562	blood:	n/a	n/a
15	POLR2A	chr8:19796595-19798096	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr8:19796652-19798195	H1-hESC	embryonic stem cell:	n/a	chr8:19796889-19796900 chr8:19797858-19797872
17	EP300	chr8:19796587-19796795	GM12878	blood:	n/a	n/a
18	SUZ12	chr8:19796360-19798500	NT2-D1	testis:	n/a	n/a
19	E2F6	chr8:19796531-19798362	H1-hESC	embryonic stem cell:	n/a	chr8:19797370-19797379 chr8:19797046-19797054 chr8:19796852-19796867 chr8:19797440-19797447 chr8:19796855-19796862
20	MAX	chr8:19796646-19798305	H1-hESC	embryonic stem cell:	n/a	chr8:19797909-19797919 chr8:19797912-19797919 chr8:19797911-19797920 chr8:19797909-19797924
21	POLR2A	chr8:19796636-19798150	K562	blood:	n/a	n/a
22	ZNF263	chr8:19796535-19797269	HEK293-T-REx	kidney:	n/a	chr8:19796775-19796796 chr8:19796786-19796795

Variant related genes	Relation type
LPL	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10092137	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10092531	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10092538	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099404	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102021	1.00[EUR][1000 genomes]
rs10102032	0.91[EUR][1000 genomes]
rs10102045	1.00[EUR][1000 genomes]
rs10102876	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10107119	1.00[EUR][1000 genomes]
rs10111437	1.00[EUR][1000 genomes]
rs1031045	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10503667	1.00[EUR][1000 genomes]
rs11992664	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11997573	1.00[EUR][1000 genomes]
rs1470186	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17091738	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17091742	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17482338	1.00[EUR][1000 genomes]
rs1801177	1.00[EUR][1000 genomes]
rs2410615	0.91[EUR][1000 genomes]
rs28371439	1.00[EUR][1000 genomes]
rs28445964	1.00[EUR][1000 genomes]
rs28522139	1.00[EUR][1000 genomes]
rs28568947	1.00[EUR][1000 genomes]
rs28575919	1.00[EUR][1000 genomes]
rs28582042	1.00[EUR][1000 genomes]
rs28615996	1.00[EUR][1000 genomes]
rs28645722	1.00[EUR][1000 genomes]
rs28689946	1.00[EUR][1000 genomes]
rs28786747	1.00[EUR][1000 genomes]
rs35469180	0.91[EUR][1000 genomes]
rs3854905	1.00[EUR][1000 genomes]
rs3900537	1.00[EUR][1000 genomes]
rs3951339	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4368997	1.00[EUR][1000 genomes]
rs56043715	1.00[EUR][1000 genomes]
rs59811201	1.00[EUR][1000 genomes]
rs60633545	1.00[EUR][1000 genomes]
rs60901125	1.00[EUR][1000 genomes]
rs6586879	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984990	1.00[EUR][1000 genomes]
rs6995406	1.00[EUR][1000 genomes]
rs6996383	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997330	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6998260	1.00[EUR][1000 genomes]
rs6999612	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7000460	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7008626	0.91[EUR][1000 genomes]
rs7009128	0.83[EUR][1000 genomes]
rs7016529	1.00[EUR][1000 genomes]
rs73667455	1.00[EUR][1000 genomes]
rs73667459	1.00[EUR][1000 genomes]
rs73667461	1.00[EUR][1000 genomes]
rs73667462	1.00[EUR][1000 genomes]
rs73667463	1.00[EUR][1000 genomes]
rs73667465	1.00[EUR][1000 genomes]
rs73667468	1.00[EUR][1000 genomes]
rs73667469	1.00[EUR][1000 genomes]
rs73667470	0.91[EUR][1000 genomes]
rs7818864	1.00[EUR][1000 genomes]
rs7835874	1.00[EUR][1000 genomes]
rs7840666	1.00[EUR][1000 genomes]
rs7840815	1.00[EUR][1000 genomes]
rs7840959	1.00[EUR][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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19795200-19796800	Weak transcription	Aorta	Aorta
2	chr8:19795400-19802000	Active TSS	Right Ventricle	heart
3	chr8:19796000-19796800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
4	chr8:19796200-19797000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr8:19796200-19798000	Active TSS	Fetal Heart	heart
6	chr8:19796200-19798200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:19796200-19798200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:19796200-19798400	Active TSS	Right Atrium	heart
9	chr8:19796200-19798600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:19796200-19799200	Active TSS	Left Ventricle	heart
11	chr8:19796200-19799800	Active TSS	Fetal Brain Female	brain
12	chr8:19796400-19796800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:19796400-19796800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr8:19796400-19796800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr8:19796400-19796800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
16	chr8:19796400-19796800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:19796400-19796800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr8:19796400-19796800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:19796400-19796800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
20	chr8:19796400-19796800	Bivalent Enhancer	Small Intestine	intestine
21	chr8:19796400-19797000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:19796400-19797000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:19796400-19797600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr8:19796400-19797800	Bivalent Enhancer	Fetal Thymus	thymus
25	chr8:19796400-19798000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:19796400-19798000	Active TSS	K562	blood
27	chr8:19796400-19798200	Active TSS	Brain Anterior Caudate	brain
28	chr8:19796400-19798400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:19796400-19798400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:19796400-19798400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr8:19796400-19798400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:19796400-19798600	Active TSS	Psoas Muscle	Psoas
33	chr8:19796400-19799400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:19796600-19796800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:19796600-19796800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:19796600-19796800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:19796600-19796800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr8:19796600-19796800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:19796600-19796800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:19796600-19796800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
45	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
46	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
47	chr8:19796600-19796800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
48	chr8:19796600-19796800	Bivalent/Poised TSS	Fetal Lung	lung
49	chr8:19796600-19796800	Enhancers	Lung	lung
50	chr8:19796600-19796800	Enhancers	Spleen	Spleen

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