Variant report

Variant	rs2267584
Chromosome Location	chr19:36156588-36156589
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	POLR2A	chr19:36156492-36158098	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:36156410-36157863	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
UPK1A	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2311872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67039774	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7245742	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7252243	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9973243	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[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	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv526166	chr19:36156588-36159368	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv817832	chr19:36156588-36159368	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	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
9	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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2267584	ZNF780B	cis	cerebellum	SCAN
rs2267584	COX6B1	cis	Muscle Skeletal	GTEx
rs2267584	ZNF575	cis	cerebellum	SCAN
rs2267584	PLD3	cis	cerebellum	SCAN
rs2267584	NFKBIB	cis	cerebellum	SCAN
rs2267584	C19orf55	cis	Thyroid	GTEx
rs2267584	MRPS12	cis	parietal	SCAN
rs2267584	TEX101	cis	parietal	SCAN
rs2267584	ZFP36	cis	cerebellum	SCAN
rs2267584	NCCRP1	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
3	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
5	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
7	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
9	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
10	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:36144600-36156600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:36144600-36156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:36144600-36156800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:36144600-36157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:36144600-36157600	Strong transcription	Thymus	Thymus
17	chr19:36144800-36156600	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr19:36144800-36156600	Strong transcription	Gastric	stomach
19	chr19:36144800-36156800	Strong transcription	Brain Anterior Caudate	brain
20	chr19:36144800-36157000	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:36145800-36157200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:36149600-36157000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:36149600-36158200	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:36149600-36164000	Weak transcription	HMEC	breast
25	chr19:36149800-36157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:36149800-36158000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:36149800-36158200	Weak transcription	NH-A	brain
28	chr19:36149800-36158400	Weak transcription	Fetal Brain Male	brain
29	chr19:36149800-36158400	Weak transcription	Small Intestine	intestine
30	chr19:36149800-36161600	Weak transcription	Osteobl	bone
31	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:36150000-36158000	Weak transcription	Fetal Brain Female	brain
33	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:36150200-36156600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:36150200-36157600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:36151000-36156800	Weak transcription	Dnd41	blood
37	chr19:36151000-36157200	Weak transcription	HSMMtube	muscle
38	chr19:36151000-36158200	Weak transcription	Colonic Mucosa	Colon
39	chr19:36151000-36158400	Weak transcription	Fetal Intestine Large	intestine
40	chr19:36151200-36157200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:36151200-36157400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:36151200-36158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:36151200-36158200	Weak transcription	NHEK	skin
44	chr19:36151200-36158400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:36151200-36158600	Weak transcription	Brain Germinal Matrix	brain
46	chr19:36151200-36158600	Weak transcription	NHLF	lung
47	chr19:36151200-36159200	Weak transcription	Ovary	ovary
48	chr19:36151200-36159200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:36151200-36159400	Weak transcription	A549	lung
50	chr19:36151200-36160800	Weak transcription	Brain Substantia Nigra	brain

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