Variant report

Variant	rs59324511
Chromosome Location	chr19:18190194-18190195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18188813..18191087-chr19:18191610..18194402,3	K562	blood:
2	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
3	chr19:18190056..18192920-chr19:18208417..18210205,2	K562	blood:
4	chr19:18183643..18186690-chr19:18187876..18191058,3	K562	blood:
5	chr19:18052586..18055033-chr19:18189740..18191499,2	K562	blood:

Variant related genes	Relation type
ENSG00000099308	Chromatin interaction
ENSG00000096996	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11086087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609078	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609086	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609091	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610456	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17878401	0.96[EUR][1000 genomes]
rs17878440	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17878594	0.94[EUR][1000 genomes]
rs17878896	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17879124	0.94[EUR][1000 genomes]
rs17879435	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17879591	0.94[EUR][1000 genomes]
rs17880761	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17881885	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17884740	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17885060	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3761041	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60208336	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61092264	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62121128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62121129	0.84[EUR][1000 genomes]
rs62121148	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247941	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911237	chr19:18169449-18193060	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv911239	chr19:18173603-18191059	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18169600-18195000	Weak transcription	Gastric	stomach
2	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood
3	chr19:18179600-18194200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:18181400-18191400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:18182600-18197600	Weak transcription	Right Atrium	heart
6	chr19:18184400-18191400	Weak transcription	Thymus	Thymus
7	chr19:18184400-18197400	Weak transcription	Lung	lung
8	chr19:18184600-18194200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr19:18184600-18194200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:18184800-18190200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:18185000-18197400	Weak transcription	Colonic Mucosa	Colon
12	chr19:18185200-18194200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr19:18185400-18194800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr19:18186400-18194400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:18186600-18191400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:18186800-18196800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr19:18187000-18195600	Weak transcription	Fetal Thymus	thymus
18	chr19:18187200-18194600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:18187200-18195000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:18187200-18195200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:18187200-18195600	Weak transcription	GM12878-XiMat	blood
22	chr19:18187200-18196800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:18187400-18191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:18187400-18191400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:18187400-18192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr19:18188800-18190200	Weak transcription	Primary T cells from cord blood	blood
27	chr19:18188800-18191400	Weak transcription	Spleen	Spleen
28	chr19:18189000-18190800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr19:18189000-18196600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr19:18189800-18190800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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