Variant report

Variant	rs7251392
Chromosome Location	chr19:42040317-42040318
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	chr19:41970790..41973417-chr19:42039173..42040939,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55786333	1.00[AFR][1000 genomes]
rs56030121	1.00[AFR][1000 genomes]
rs73933645	1.00[AFR][1000 genomes]
rs73933647	1.00[AFR][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	nsv510767	chr19:41962486-42049165	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv579602	chr19:42015468-42047924	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42037200-42042200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42038400-42041400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr19:42038400-42042000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:42038600-42040600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr19:42038600-42041000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr19:42038600-42041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:42038600-42041200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:42038600-42041400	Enhancers	Primary T cells from cord blood	blood
9	chr19:42038600-42041400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:42038600-42041400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:42038600-42042000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:42038600-42042800	Weak transcription	Right Atrium	heart
13	chr19:42038600-42044400	Weak transcription	Thymus	Thymus
14	chr19:42038600-42050800	Weak transcription	Spleen	Spleen
15	chr19:42038800-42040800	Enhancers	Fetal Thymus	thymus
16	chr19:42038800-42041000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr19:42038800-42041400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:42038800-42041400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr19:42038800-42041600	Enhancers	Primary B cells from peripheral blood	blood
20	chr19:42038800-42041800	Weak transcription	Fetal Lung	lung
21	chr19:42038800-42042000	Enhancers	Adipose Nuclei	Adipose
22	chr19:42038800-42042200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:42038800-42042200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr19:42039000-42041400	Enhancers	Primary hematopoietic stem cells	blood
25	chr19:42039200-42041000	Weak transcription	HUVEC	blood vessel
26	chr19:42039400-42042000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr19:42039600-42040800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:42039800-42040400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr19:42039800-42040400	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:42039800-42040800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:42039800-42041000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:42040000-42040400	Enhancers	Primary B cells from cord blood	blood
33	chr19:42040000-42040800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:42040200-42040400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:42040200-42040400	Enhancers	Brain Hippocampus Middle	brain
36	chr19:42040200-42040400	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr19:42040200-42041000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr19:42040200-42044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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