Variant report

Variant	rs2311871
Chromosome Location	chr19:36153914-36153915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36152585..36154881-chr19:36156559..36158578,2	K562	blood:

Variant related genes	Relation type
ENSG00000105668	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11667254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs170758	1.00[JPT][hapmap]
rs4363955	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4805137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61741212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67400004	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2311871	UPK1A-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2311871	UPK1A	cis	lesional skin	skin_eQTL
rs2311871	UPK1A	cis	Esophagus Mucosa	GTEx
rs2311871	UPK1A-AS1	cis	Esophagus Mucosa	GTEx
rs2311871	UPK1A	cis	Skin Sun Exposed Lower leg	GTEx
rs2311871	UPK1A	cis	normal skin	skin_eQTL
rs2311871	UPK1A	cis	uninvolved skin	skin_eQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140000-36154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
3	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
4	chr19:36141000-36155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
7	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:36141800-36154000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
10	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
12	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
13	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:36143600-36156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr19:36144600-36155000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr19:36144600-36155400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:36144600-36156400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:36144600-36156600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:36144600-36156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:36144600-36156800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:36144600-36157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:36144600-36157600	Strong transcription	Thymus	Thymus
24	chr19:36144800-36156600	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr19:36144800-36156600	Strong transcription	Gastric	stomach
26	chr19:36144800-36156800	Strong transcription	Brain Anterior Caudate	brain
27	chr19:36144800-36157000	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:36145800-36157200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr19:36149600-36154400	Weak transcription	HSMM	muscle
30	chr19:36149600-36154800	Weak transcription	NHDF-Ad	bronchial
31	chr19:36149600-36155000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:36149600-36155200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:36149600-36157000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:36149600-36158200	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:36149600-36164000	Weak transcription	HMEC	breast
36	chr19:36149800-36154200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:36149800-36154800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:36149800-36156200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36149800-36156400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:36149800-36157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:36149800-36158000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:36149800-36158200	Weak transcription	NH-A	brain
43	chr19:36149800-36158400	Weak transcription	Fetal Brain Male	brain
44	chr19:36149800-36158400	Weak transcription	Small Intestine	intestine
45	chr19:36149800-36161600	Weak transcription	Osteobl	bone
46	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:36150000-36158000	Weak transcription	Fetal Brain Female	brain
48	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:36150200-36154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:36150200-36156600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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