Variant report

Variant	rs17445374
Chromosome Location	chr19:21326358-21326359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21325138..21326653-chr19:21327405..21328910,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10406253	0.90[CEU][hapmap]
rs11881107	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12052171	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151204	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16997503	1.00[CEU][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17445381	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2115498	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs57941450	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58095420	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59436607	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60870377	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6511202	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs6511204	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs6511205	0.95[CEU][hapmap]
rs67716442	0.82[EUR][1000 genomes]
rs7256860	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73028563	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73028565	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73028577	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8101918	0.94[CEU][hapmap]
rs995655	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats 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
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS 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	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers 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	8 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17445374	ZNF429	cis	cerebellum	SCAN
rs17445374	ZNF100	cis	cerebellum	SCAN
rs17445374	ZNF714	cis	parietal	SCAN
rs17445374	ZNF714	cis	cerebellum	SCAN
rs17445374	ZNF738	cis	parietal	SCAN
rs17445374	ZNF429	cis	parietal	SCAN
rs17445374	RPSAP58	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21324600-21326600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:21324600-21326600	Active TSS	Esophagus	oesophagus
3	chr19:21325400-21328000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:21325400-21328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:21325400-21328200	Weak transcription	Left Ventricle	heart
6	chr19:21325400-21329400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:21325400-21330000	Weak transcription	Colonic Mucosa	Colon
8	chr19:21325400-21332400	Weak transcription	Gastric	stomach
9	chr19:21325400-21332600	Weak transcription	Spleen	Spleen
10	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
11	chr19:21325600-21326400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:21325600-21326400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:21325600-21326400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:21325600-21326400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:21325600-21326400	Flanking Active TSS	HMEC	breast
16	chr19:21325600-21326600	Enhancers	Colon Smooth Muscle	Colon
17	chr19:21325600-21326600	Flanking Active TSS	NHEK	skin
18	chr19:21325600-21326800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr19:21325600-21334200	Weak transcription	Psoas Muscle	Psoas
20	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
21	chr19:21325800-21326400	Enhancers	Primary B cells from peripheral blood	blood
22	chr19:21325800-21326400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:21325800-21326400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr19:21325800-21326400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr19:21325800-21326400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr19:21325800-21326600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:21325800-21326600	ZNF genes & repeats	HSMM	muscle
28	chr19:21325800-21326800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:21325800-21326800	Enhancers	Stomach Mucosa	stomach
30	chr19:21325800-21327000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr19:21325800-21327000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:21325800-21327000	Flanking Active TSS	Hela-S3	cervix
33	chr19:21325800-21330000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:21325800-21332400	Weak transcription	Liver	Liver
35	chr19:21325800-21332600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:21325800-21332600	Weak transcription	Brain Substantia Nigra	brain
37	chr19:21326000-21326400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr19:21326000-21326400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:21326000-21326400	Weak transcription	Brain Germinal Matrix	brain
40	chr19:21326000-21326400	Weak transcription	Fetal Intestine Small	intestine
41	chr19:21326000-21326400	Enhancers	Fetal Kidney	kidney
42	chr19:21326000-21326400	Weak transcription	Fetal Lung	lung
43	chr19:21326000-21326400	Weak transcription	Fetal Thymus	thymus
44	chr19:21326000-21326400	Weak transcription	Thymus	Thymus
45	chr19:21326000-21326400	Enhancers	HUVEC	blood vessel
46	chr19:21326000-21326400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:21326000-21326600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:21326000-21326600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:21326000-21326600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:21326000-21326600	Weak transcription	Placenta	Placenta

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