Variant report

Variant	rs73590564
Chromosome Location	chr19:36202093-36202094
allele	A/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	YY1	chr19:36201610-36202220	GM12892	blood:	n/a	chr19:36201715-36201734
2	POLR2A	chr19:36201429-36202860	GM12892	blood:	n/a	n/a
3	RUNX3	chr19:36201667-36202692	GM12878	blood:	n/a	n/a
4	MXI1	chr19:36201736-36202646	GM12878	blood:	n/a	n/a
5	EP300	chr19:36201619-36202602	GM12878	blood:	n/a	chr19:36202375-36202389
6	RELA	chr19:36201605-36202619	GM19193	blood:	n/a	n/a
7	PML	chr19:36201497-36202779	GM12878	blood:	n/a	chr19:36202395-36202404 chr19:36202645-36202653
8	TBL1XR1	chr19:36201690-36202628	GM12878	blood:	n/a	n/a
9	RELA	chr19:36201644-36202614	GM12878	blood:	n/a	n/a
10	RUNX3	chr19:36201624-36202685	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:36201499-36202701	GM12892	blood:	n/a	n/a
12	PML	chr19:36201828-36202113	GM12878	blood:	n/a	n/a
13	RELA	chr19:36201540-36202626	GM12891	blood:	n/a	n/a
14	POU2F2	chr19:36202084-36202689	GM12878	blood:	n/a	chr19:36202372-36202383 chr19:36202368-36202386 chr19:36202407-36202419 chr19:36202599-36202606 chr19:36202373-36202380 chr19:36202371-36202381 chr19:36202369-36202384 chr19:36202372-36202381 chr19:36202370-36202382
15	STAT5A	chr19:36201665-36202746	GM12878	blood:	n/a	n/a
16	RCOR1	chr19:36201826-36202592	GM12878	blood:	n/a	n/a
17	MAX	chr19:36201655-36202681	GM12878	blood:	n/a	chr19:36202394-36202403
18	POLR2A	chr19:36201538-36202668	GM19099	blood:	n/a	n/a
19	STAT3	chr19:36201769-36202605	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:36201558-36202640	GM12878	blood:	n/a	n/a
21	BATF	chr19:36201645-36202624	GM12878	blood:	n/a	chr19:36202055-36202065
22	RELA	chr19:36201608-36202650	GM18951	blood:	n/a	n/a
23	BHLHE40	chr19:36201716-36202620	GM12878	blood:	n/a	n/a
24	RELA	chr19:36201633-36202644	GM19099	blood:	n/a	n/a
25	MTA3	chr19:36201554-36202741	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:36201393-36202813	GM12892	blood:	n/a	n/a
27	NFIC	chr19:36201566-36202724	GM12878	blood:	n/a	n/a
28	FOXM1	chr19:36201467-36202738	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:36201527-36202728	GM12878	blood:	n/a	n/a
30	EP300	chr19:36201636-36202601	GM12878	blood:	n/a	chr19:36202375-36202389
31	POLR2A	chr19:36201589-36202667	GM15510	blood:	n/a	n/a
32	POU2F2	chr19:36201496-36202747	GM12891	blood:	n/a	chr19:36202372-36202383 chr19:36202368-36202386 chr19:36202407-36202419 chr19:36202599-36202606 chr19:36202373-36202380 chr19:36202371-36202381 chr19:36202369-36202384 chr19:36202372-36202381 chr19:36202370-36202382
33	POLR2A	chr19:36201791-36202532	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr19:36201919-36202607	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:36201567-36202675	GM18505	blood:	n/a	n/a
36	POLR2A	chr19:36201569-36202675	GM19193	blood:	n/a	n/a
37	CUX1	chr19:36201704-36202601	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:36202056-36202097	MCF-7	breast:	n/a	n/a
39	POLR2A	chr19:36202083-36202113	HepG2	liver:	n/a	n/a
40	RELA	chr19:36201421-36202629	GM10847	blood:	n/a	n/a
41	POLR2A	chr19:36202024-36202222	Hela-S3	cervix:	n/a	n/a
42	BCL3	chr19:36201674-36202160	GM12878	blood:	n/a	chr19:36202041-36202054 chr19:36201876-36201885
43	POLR2A	chr19:36201652-36202664	GM18951	blood:	n/a	n/a
44	RELA	chr19:36201665-36202557	GM18526	blood:	n/a	n/a
45	SP1	chr19:36201632-36202647	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:36201693-36202518	MCF10A-Er-Src	breast:	n/a	n/a
47	IRF4	chr19:36202045-36202627	GM12878	blood:	n/a	n/a
48	STAT1	chr19:36201691-36202553	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:36201451-36202785	GM12878	blood:	n/a	n/a
50	NFATC1	chr19:36201667-36202619	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36201857..36203426-chr19:36205188..36208060,2	MCF-7	breast:
2	chr19:35763154..35765323-chr19:36201276..36203802,2	K562	blood:

Variant related genes	Relation type
ZBTB32	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11546662	0.94[AMR][1000 genomes]
rs11546665	0.94[AMR][1000 genomes]
rs16970649	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17776834	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2227278	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234360	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234375	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267585	0.84[EUR][1000 genomes]
rs2267586	0.85[EUR][1000 genomes]
rs2285420	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs231217	0.85[AMR][1000 genomes]
rs2871893	0.81[EUR][1000 genomes]
rs2871894	0.81[EUR][1000 genomes]
rs34562867	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3817622	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3893069	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4580318	0.84[EUR][1000 genomes]
rs4992668	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56849855	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57180990	0.84[EUR][1000 genomes]
rs58142685	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58255615	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58496446	0.84[EUR][1000 genomes]
rs58952294	0.96[EUR][1000 genomes]
rs61254015	0.93[EUR][1000 genomes]
rs61351824	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61375471	0.84[EUR][1000 genomes]
rs73590543	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590544	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73590559	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590561	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590568	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590576	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590585	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73590591	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73590598	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73592416	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73592448	0.94[AMR][1000 genomes]
rs73599271	0.82[EUR][1000 genomes]
rs73599272	0.80[EUR][1000 genomes]
rs73599274	0.80[EUR][1000 genomes]
rs73599279	0.81[EUR][1000 genomes]
rs73599281	0.81[EUR][1000 genomes]
rs73599286	0.84[EUR][1000 genomes]
rs73599289	0.84[EUR][1000 genomes]
rs73600880	0.84[EUR][1000 genomes]
rs73600881	0.84[EUR][1000 genomes]
rs73600885	0.85[EUR][1000 genomes]
rs73600892	0.81[EUR][1000 genomes]
rs73600893	0.84[EUR][1000 genomes]
rs73600899	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73602803	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73602804	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73602806	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73602823	0.96[EUR][1000 genomes]
rs73602827	0.96[EUR][1000 genomes]
rs73602832	0.96[EUR][1000 genomes]
rs73602833	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36194000-36206600	Weak transcription	Brain Angular Gyrus	brain
2	chr19:36194000-36206800	Weak transcription	Right Atrium	heart
3	chr19:36194000-36206800	Weak transcription	Osteobl	bone
4	chr19:36194600-36206200	Weak transcription	Right Ventricle	heart
5	chr19:36195400-36206600	Weak transcription	Gastric	stomach
6	chr19:36198000-36205400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:36199400-36204000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36200400-36203200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:36200400-36204000	Enhancers	Primary B cells from peripheral blood	blood
10	chr19:36201000-36202600	Enhancers	Esophagus	oesophagus
11	chr19:36201000-36204000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:36201200-36202400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr19:36201200-36202600	Flanking Active TSS	GM12878-XiMat	blood
14	chr19:36201200-36206600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:36201200-36207000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:36201400-36204200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:36201400-36206400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:36201600-36202200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:36201600-36202200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36201600-36202400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr19:36201600-36202400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr19:36201600-36202400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr19:36201600-36202600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr19:36201600-36202600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr19:36201600-36202600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:36201600-36204800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:36201600-36206000	Enhancers	Spleen	Spleen
28	chr19:36201600-36207000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr19:36201600-36207200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:36201800-36202400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr19:36201800-36202400	Weak transcription	Colonic Mucosa	Colon
32	chr19:36201800-36202600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:36201800-36202600	Enhancers	A549	lung
34	chr19:36201800-36206800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr19:36202000-36202200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:36202000-36202200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:36202000-36202200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr19:36202000-36202200	Enhancers	Brain Anterior Caudate	brain
39	chr19:36202000-36202400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:36202000-36202400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr19:36202000-36202400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr19:36202000-36202600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr19:36202000-36202600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:36202000-36202600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:36202000-36202600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr19:36202000-36202600	Enhancers	NHEK	skin
47	chr19:36202000-36204600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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