Variant report

Variant	rs234333
Chromosome Location	chr19:40457214-40457215
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs173062	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs234335	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs234336	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234337	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs234344	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs234345	0.83[AFR][1000 genomes]
rs234347	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs234348	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs234351	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs234362	0.81[AMR][1000 genomes]
rs234363	0.81[AMR][1000 genomes]
rs234364	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234366	0.81[AMR][1000 genomes]
rs234367	0.81[AMR][1000 genomes]
rs2542325	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2542328	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs376630	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs378554	0.86[AFR][1000 genomes]
rs442111	1.00[ASN][1000 genomes]
rs512360	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58294889	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59616965	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs913212	0.89[AFR][1000 genomes];0.81[AMR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40448400-40457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:40450000-40461200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:40450000-40461800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:40450400-40458600	Weak transcription	Thymus	Thymus
5	chr19:40451600-40458800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:40453000-40457600	Weak transcription	Stomach Mucosa	stomach
7	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
8	chr19:40453600-40457600	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:40453600-40457600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr19:40454400-40459200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:40454800-40459000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr19:40454800-40460000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:40455000-40460400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr19:40455800-40458400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
15	chr19:40456000-40460400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:40456400-40459600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr19:40456600-40457600	Enhancers	Fetal Thymus	thymus
18	chr19:40457000-40457400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:40457000-40457400	Bivalent Enhancer	Lung	lung
20	chr19:40457000-40457600	Enhancers	A549	lung
21	chr19:40457000-40458000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr19:40457000-40458000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr19:40457000-40458200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:40457000-40458400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr19:40457000-40458600	Enhancers	Dnd41	blood
26	chr19:40457000-40458600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr19:40457200-40457400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr19:40457200-40457400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:40457200-40457600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr19:40457200-40457800	Enhancers	Brain Cingulate Gyrus	brain
31	chr19:40457200-40458000	Enhancers	Small Intestine	intestine
32	chr19:40457200-40458600	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:40457200-40459400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr19:40457200-40460200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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