Variant report

Variant	rs450095
Chromosome Location	chr19:40463791-40463792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40461619..40464271-chr19:40474236..40476089,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs55724336	0.87[EUR][1000 genomes]
rs59307138	0.87[EUR][1000 genomes]
rs60037732	0.87[EUR][1000 genomes]
rs61655884	1.00[EUR][1000 genomes]
rs7245925	1.00[EUR][1000 genomes]
rs7249514	0.87[EUR][1000 genomes]
rs7250763	0.87[EUR][1000 genomes]
rs7255186	0.87[EUR][1000 genomes]
rs73543966	0.87[EUR][1000 genomes]
rs73545987	0.87[EUR][1000 genomes]
rs73545999	0.87[EUR][1000 genomes]
rs73547626	0.87[EUR][1000 genomes]
rs73547631	0.87[EUR][1000 genomes]
rs73547672	0.87[EUR][1000 genomes]
rs73549807	0.87[EUR][1000 genomes]
rs73549809	0.87[EUR][1000 genomes]
rs73549848	0.87[EUR][1000 genomes]
rs73551667	1.00[EUR][1000 genomes]
rs73551692	1.00[EUR][1000 genomes]
rs8106043	1.00[EUR][1000 genomes]
rs8106753	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40453000-40466000	Weak transcription	Fetal Intestine Small	intestine
2	chr19:40457400-40475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:40458400-40466400	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:40459600-40466200	Enhancers	Primary B cells from cord blood	blood
5	chr19:40460000-40464800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:40460200-40474800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:40460400-40464800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:40460400-40465000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:40460600-40464800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:40460800-40476000	Weak transcription	Psoas Muscle	Psoas
11	chr19:40461200-40463800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr19:40461400-40463800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:40461400-40465000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:40461600-40463800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:40461600-40465200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:40461600-40475400	Weak transcription	Brain Substantia Nigra	brain
17	chr19:40461800-40465000	Weak transcription	Fetal Thymus	thymus
18	chr19:40462200-40464800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:40462400-40466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:40463400-40464000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr19:40463400-40464000	Enhancers	Primary T cells from cord blood	blood
22	chr19:40463400-40466400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:40463600-40464000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr19:40463600-40464000	Enhancers	GM12878-XiMat	blood
25	chr19:40463600-40466400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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