Variant report

Variant	rs35578515
Chromosome Location	chr19:21585764-21585765
allele	C/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	POLR2A	chr19:21585630-21586090	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:21585711-21585825	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21579150..21580726-chr19:21585084..21587356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269237	TF binding region
ZNF493	TF binding region
ENSG00000196268	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11673406	0.82[EUR][1000 genomes]
rs12150996	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12151067	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151068	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151222	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12971724	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12975981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981869	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984238	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17618715	0.85[ASN][1000 genomes]
rs17618778	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1762580	0.85[ASN][1000 genomes]
rs2650810	0.82[EUR][1000 genomes]
rs2650845	0.84[EUR][1000 genomes]
rs2650847	0.83[EUR][1000 genomes]
rs28839521	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914629	0.82[EUR][1000 genomes]
rs2914636	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2914637	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2914647	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2928210	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34560125	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34875588	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35148123	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35860067	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4341872	0.83[EUR][1000 genomes]
rs4461198	0.83[EUR][1000 genomes]
rs483383	0.85[ASN][1000 genomes]
rs501647	0.85[ASN][1000 genomes]
rs509540	0.85[ASN][1000 genomes]
rs514390	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs549882	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs552039	0.85[ASN][1000 genomes]
rs56152627	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs566230	0.85[ASN][1000 genomes]
rs57055133	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57841525	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58121117	0.85[ASN][1000 genomes]
rs59617671	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs608002	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62107470	0.85[ASN][1000 genomes]
rs62107538	0.85[ASN][1000 genomes]
rs62109224	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62110379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62111469	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62111470	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62111476	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6511247	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs670813	0.85[ASN][1000 genomes]
rs67723811	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs685844	0.85[ASN][1000 genomes]
rs7245848	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7246684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7248700	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7257584	0.81[ASN][1000 genomes]
rs7258211	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7259178	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73025767	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8099863	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8101077	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8102655	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8103151	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8103417	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8105404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105629	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107042	0.80[EUR][1000 genomes]
rs8107940	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8107999	0.85[AFR][1000 genomes]
rs8111189	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8113558	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
15	nsv978789	chr19:21579953-21589286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs35578515	ZNF429	cis	Whole Blood	GTEx
rs35578515	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs35578515	ZNF429	cis	Artery Aorta	GTEx
rs35578515	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs35578515	ZNF738	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21580600-21592600	Weak transcription	Placenta	Placenta
2	chr19:21580600-21593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21580600-21593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21580600-21600200	Weak transcription	Gastric	stomach
5	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21580800-21595400	Weak transcription	HUVEC	blood vessel
7	chr19:21581000-21591800	Weak transcription	Pancreas	Pancrea
8	chr19:21581000-21596200	Weak transcription	Aorta	Aorta
9	chr19:21581000-21598800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:21581200-21590200	Weak transcription	NHLF	lung
11	chr19:21581400-21586200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:21581400-21588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:21581400-21588600	Weak transcription	Fetal Stomach	stomach
14	chr19:21581400-21589000	Weak transcription	K562	blood
15	chr19:21581400-21592000	Weak transcription	NH-A	brain
16	chr19:21581400-21594600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:21581400-21596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:21581400-21598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:21581600-21588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:21581600-21589000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:21581600-21590000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:21581600-21591800	Weak transcription	Right Ventricle	heart
23	chr19:21581600-21592200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:21581600-21592400	Weak transcription	Brain Angular Gyrus	brain
25	chr19:21581600-21592400	Weak transcription	Fetal Kidney	kidney
26	chr19:21581600-21594600	Weak transcription	HepG2	liver
27	chr19:21581600-21601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:21581800-21588400	Weak transcription	Small Intestine	intestine
29	chr19:21581800-21588800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:21581800-21607000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:21582000-21586000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr19:21582000-21588400	Weak transcription	Adipose Nuclei	Adipose
33	chr19:21582200-21590800	Weak transcription	Fetal Lung	lung
34	chr19:21582600-21586200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:21583200-21585800	Weak transcription	Thymus	Thymus
36	chr19:21583200-21588800	Weak transcription	Esophagus	oesophagus
37	chr19:21583400-21586800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:21583600-21585800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr19:21583600-21588400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:21583600-21588800	Weak transcription	Lung	lung
41	chr19:21583800-21586200	Strong transcription	Brain Germinal Matrix	brain
42	chr19:21583800-21587800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:21583800-21588800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:21583800-21589200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:21583800-21592200	Weak transcription	Brain Anterior Caudate	brain
46	chr19:21583800-21595600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr19:21583800-21596200	Weak transcription	Brain Substantia Nigra	brain
48	chr19:21583800-21598200	Weak transcription	Fetal Brain Male	brain
49	chr19:21584000-21586200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:21584000-21587400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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