Variant report

Variant	rs56330606
Chromosome Location	chr19:37673953-37673954
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	chr19:37672779..37674398-chr19:37681782..37683371,2	K562	blood:
2	chr19:37668184..37670012-chr19:37672893..37674579,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF585B-3	chr19:37672482-37674920	NONHSAT066075

Extended variants
information (count: 52 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1047333	0.91[EUR][1000 genomes]
rs11084871	0.86[EUR][1000 genomes]
rs11666897	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11667146	0.85[EUR][1000 genomes]
rs11670216	0.86[EUR][1000 genomes]
rs11671112	0.85[EUR][1000 genomes]
rs11673192	0.87[EUR][1000 genomes]
rs11673344	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12151313	0.90[EUR][1000 genomes]
rs1234251	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1879497	0.93[EUR][1000 genomes]
rs1962889	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2011475	0.86[EUR][1000 genomes]
rs2562587	0.86[EUR][1000 genomes]
rs45626541	0.97[EUR][1000 genomes]
rs55792845	0.85[EUR][1000 genomes]
rs55856280	0.82[EUR][1000 genomes]
rs55921822	0.85[EUR][1000 genomes]
rs56208574	0.85[EUR][1000 genomes]
rs56343212	0.85[EUR][1000 genomes]
rs703530	0.86[EUR][1000 genomes]
rs703535	0.85[EUR][1000 genomes]
rs703537	0.86[EUR][1000 genomes]
rs7247589	0.86[EUR][1000 genomes]
rs7254616	0.83[EUR][1000 genomes]
rs7256213	0.86[EUR][1000 genomes]
rs7256746	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7256876	0.91[EUR][1000 genomes]
rs7259513	0.91[EUR][1000 genomes]
rs7260386	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73622783	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8104919	0.86[EUR][1000 genomes]
rs8106386	0.86[EUR][1000 genomes]
rs8107192	0.85[EUR][1000 genomes]
rs8108727	0.92[EUR][1000 genomes]
rs8110696	0.82[EUR][1000 genomes]
rs826322	0.86[EUR][1000 genomes]
rs826323	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic 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	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic 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	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	esv3433517	chr19:37643755-37675928	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs56330606	ZNF585B	cis	Artery Tibial	GTEx
rs56330606	AC012309.5	cis	Thyroid	GTEx
rs56330606	AC012309.5	cis	Artery Tibial	GTEx
rs56330606	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs56330606	AC012309.5	cis	Heart Left Ventricle	GTEx
rs56330606	AC012309.5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37664200-37675400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:37668000-37686000	ZNF genes & repeats	Liver	Liver
3	chr19:37670000-37681200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37672000-37674800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr19:37672000-37676000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37672000-37686400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:37672200-37674800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr19:37672200-37675200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:37672200-37676000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:37672200-37686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:37672600-37674600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:37672800-37675000	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr19:37672800-37675600	ZNF genes & repeats	Left Ventricle	heart
14	chr19:37672800-37675600	ZNF genes & repeats	Ovary	ovary
15	chr19:37672800-37676000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr19:37672800-37676200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr19:37672800-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:37673000-37674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:37673000-37674400	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr19:37673000-37674600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
21	chr19:37673000-37674600	ZNF genes & repeats	Dnd41	blood
22	chr19:37673000-37675800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37673000-37675800	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:37673200-37674000	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr19:37673200-37674400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr19:37673200-37674600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:37673200-37674600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr19:37673200-37674600	ZNF genes & repeats	Fetal Lung	lung
29	chr19:37673200-37674600	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr19:37673200-37674600	ZNF genes & repeats	Psoas Muscle	Psoas
31	chr19:37673200-37674800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:37673200-37674800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr19:37673200-37675000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37673200-37675200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr19:37673200-37675200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr19:37673200-37675800	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr19:37673200-37679000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
38	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:37673400-37674200	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr19:37673400-37674200	ZNF genes & repeats	Thymus	Thymus
41	chr19:37673400-37674400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr19:37673400-37674600	ZNF genes & repeats	Fetal Brain Male	brain
43	chr19:37673400-37674600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
44	chr19:37673400-37675000	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr19:37673400-37675000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
46	chr19:37673400-37675200	ZNF genes & repeats	Pancreas	Pancrea
47	chr19:37673400-37675600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:37673400-37675800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:37673400-37676000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:37673400-37685400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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