Variant report

Variant	rs73590559
Chromosome Location	chr19:36194251-36194252
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:36194175-36194696	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr19:36192816-36194277	HepG2	liver:	n/a	n/a
3	E2F6	chr19:36194130-36194585	H1-hESC	embryonic stem cell:	n/a	chr19:36194436-36194445

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36134071..36136376-chr19:36193211..36195269,2	MCF-7	breast:
2	chr19:36193261..36195251-chr19:36208816..36211234,2	K562	blood:
3	chr19:36193001..36195251-chr19:36206737..36211234,4	K562	blood:
4	chr19:36184467..36185236-chr19:36193340..36194279,2	MCF-7	breast:
5	chr19:36192706..36195143-chr19:36207502..36210108,2	MCF-7	breast:
6	chr19:36193425..36195138-chr19:36196726..36199415,4	K562	blood:
7	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:

No data

Variant related genes	Relation type
ZBTB32	TF binding region
ENSG00000105672	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11546662	0.86[AMR][1000 genomes]
rs11546665	0.86[AMR][1000 genomes]
rs16970649	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17776834	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227278	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234360	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234375	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267585	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2267586	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2285420	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2871893	0.83[EUR][1000 genomes]
rs2871894	0.83[EUR][1000 genomes]
rs34562867	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817622	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3893069	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4580318	0.85[EUR][1000 genomes]
rs4992668	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56849855	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57180990	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58142685	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58255615	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58496446	0.85[EUR][1000 genomes]
rs58952294	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61254015	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61351824	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61375471	0.85[EUR][1000 genomes]
rs73590543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590544	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73590561	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590564	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73590568	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590576	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590585	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590591	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73590598	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73592416	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73592448	0.86[AMR][1000 genomes]
rs73599271	0.84[EUR][1000 genomes]
rs73599272	0.82[EUR][1000 genomes]
rs73599274	0.82[EUR][1000 genomes]
rs73599279	0.83[EUR][1000 genomes]
rs73599281	0.83[EUR][1000 genomes]
rs73599286	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73599289	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73600880	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73600881	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73600885	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73600892	0.85[EUR][1000 genomes]
rs73600893	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73600899	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73602803	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73602804	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73602806	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73602823	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602827	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602832	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73602833	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv961286	chr19:36187862-36199437	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3348768	chr19:36194231-36194698	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 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	chr19:36192800-36194400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:36193400-36194400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:36193800-36194400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr19:36193800-36194600	Enhancers	Lung	lung
5	chr19:36194000-36194400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr19:36194000-36194400	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:36194000-36194400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr19:36194000-36194600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:36194000-36194600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:36194000-36194600	Enhancers	Esophagus	oesophagus
11	chr19:36194000-36194600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr19:36194000-36194800	Enhancers	Gastric	stomach
13	chr19:36194000-36194800	Enhancers	Spleen	Spleen
14	chr19:36194000-36195600	Enhancers	Pancreas	Pancrea
15	chr19:36194000-36199200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:36194000-36206600	Weak transcription	Brain Angular Gyrus	brain
17	chr19:36194000-36206800	Weak transcription	Right Atrium	heart
18	chr19:36194000-36206800	Weak transcription	Osteobl	bone
19	chr19:36194200-36194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr19:36194200-36194400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:36194200-36194400	Enhancers	Fetal Brain Female	brain
22	chr19:36194200-36194400	Enhancers	Placenta	Placenta
23	chr19:36194200-36194400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr19:36194200-36194400	Enhancers	Dnd41	blood
25	chr19:36194200-36194600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:36194200-36194600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr19:36194200-36194600	Enhancers	Right Ventricle	heart
28	chr19:36194200-36194600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr19:36194200-36194600	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:36194200-36194800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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