Variant report

Variant	rs234307
Chromosome Location	chr19:40517202-40517203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	1.00[EUR][1000 genomes]
rs234312	1.00[EUR][1000 genomes]
rs234316	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234319	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234321	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234322	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234327	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	1.00[EUR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
2	chr19:40504000-40517600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:40504000-40519600	Weak transcription	Fetal Brain Male	brain
4	chr19:40504000-40519600	Weak transcription	Hela-S3	cervix
5	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:40511400-40517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:40511400-40518000	Strong transcription	Brain Hippocampus Middle	brain
8	chr19:40511600-40522000	ZNF genes & repeats	A549	lung
9	chr19:40511800-40518000	Strong transcription	Colon Smooth Muscle	Colon
10	chr19:40512000-40517600	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr19:40512000-40517800	Strong transcription	Primary B cells from cord blood	blood
12	chr19:40512000-40519200	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
14	chr19:40512200-40517600	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:40512200-40517800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr19:40512200-40518600	Strong transcription	Brain Anterior Caudate	brain
17	chr19:40512600-40517400	Weak transcription	NH-A	brain
18	chr19:40512600-40518000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:40512600-40519600	Weak transcription	Colonic Mucosa	Colon
20	chr19:40512800-40517600	Weak transcription	HUVEC	blood vessel
21	chr19:40512800-40518200	Strong transcription	Fetal Thymus	thymus
22	chr19:40512800-40518200	Strong transcription	Left Ventricle	heart
23	chr19:40513000-40518400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:40513200-40517600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:40513400-40518800	Strong transcription	Brain Cingulate Gyrus	brain
26	chr19:40513400-40521800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:40513600-40522200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:40513800-40518000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:40513800-40518400	Strong transcription	Brain Angular Gyrus	brain
30	chr19:40514000-40523000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:40514400-40517600	Weak transcription	Psoas Muscle	Psoas
32	chr19:40514800-40517600	Strong transcription	Adipose Nuclei	Adipose
33	chr19:40514800-40517600	Weak transcription	Gastric	stomach
34	chr19:40514800-40517600	Weak transcription	Spleen	Spleen
35	chr19:40514800-40517800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr19:40514800-40519600	Weak transcription	Right Ventricle	heart
37	chr19:40515000-40517600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:40515000-40517800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:40515000-40518200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:40515000-40519000	Weak transcription	HepG2	liver
41	chr19:40515000-40519400	Weak transcription	Fetal Intestine Large	intestine
42	chr19:40515200-40517400	Weak transcription	Brain Substantia Nigra	brain
43	chr19:40515200-40517600	Weak transcription	Lung	lung
44	chr19:40515200-40517600	Strong transcription	Ovary	ovary
45	chr19:40515200-40517600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:40515200-40517600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr19:40515200-40517600	Weak transcription	NHLF	lung
48	chr19:40515200-40519200	Weak transcription	HSMMtube	muscle
49	chr19:40515200-40519600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr19:40515200-40519800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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