Variant report

Variant	rs554395278
Chromosome Location	chr19:42082751-42082752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv960930	chr19:42080172-42093112	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv978752	chr19:42082354-42093112	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42081600-42083000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:42081800-42082800	Enhancers	Left Ventricle	heart
3	chr19:42081800-42083200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:42082000-42082800	Enhancers	Lung	lung
5	chr19:42082000-42082800	Enhancers	Right Ventricle	heart
6	chr19:42082000-42083200	Enhancers	Thymus	Thymus
7	chr19:42082000-42083800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:42082000-42084000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:42082200-42082800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr19:42082200-42082800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr19:42082200-42082800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:42082200-42082800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:42082200-42082800	Enhancers	Right Atrium	heart
14	chr19:42082200-42082800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr19:42082200-42083000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr19:42082200-42083000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:42082200-42083000	Flanking Active TSS	GM12878-XiMat	blood
18	chr19:42082200-42085200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr19:42082400-42082800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr19:42082400-42082800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:42082400-42082800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr19:42082400-42082800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:42082400-42082800	Enhancers	Duodenum Mucosa	Duodenum
24	chr19:42082400-42082800	Flanking Active TSS	Fetal Thymus	thymus
25	chr19:42082400-42083000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr19:42082400-42083000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:42082400-42083200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr19:42082400-42083200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:42082400-42083200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:42082400-42083600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:42082400-42084000	Enhancers	Placenta	Placenta
32	chr19:42082600-42082800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr19:42082600-42082800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:42082600-42082800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:42082600-42082800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:42082600-42082800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr19:42082600-42082800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr19:42082600-42082800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr19:42082600-42082800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr19:42082600-42083000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr19:42082600-42083000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr19:42082600-42083200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr19:42082600-42083800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:42082600-42083800	Enhancers	Spleen	Spleen

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