Variant report

Variant	rs570002346
Chromosome Location	chr5:112369915-112369916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112367536..112370083-chr5:112388542..112390283,2	K562	blood:
2	chr5:112312938..112314772-chr5:112369842..112371988,2	K562	blood:
3	chr5:112368998..112372284-chr5:112372465..112374362,3	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv15902	chr5:112369563-112410775	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
2	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
3	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
5	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:112363600-112379200	Weak transcription	Gastric	stomach
8	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
9	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
10	chr5:112363800-112371000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:112363800-112372000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112363800-112372200	Weak transcription	Fetal Brain Female	brain
13	chr5:112363800-112376200	Weak transcription	Dnd41	blood
14	chr5:112363800-112384600	Weak transcription	Aorta	Aorta
15	chr5:112363800-112386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:112363800-112399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:112363800-112409200	Weak transcription	Colonic Mucosa	Colon
18	chr5:112363800-112417800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:112364000-112370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112364000-112374200	Weak transcription	HUVEC	blood vessel
21	chr5:112364000-112374600	Weak transcription	Lung	lung
22	chr5:112364000-112379000	Weak transcription	Fetal Lung	lung
23	chr5:112364000-112389400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:112364200-112370400	Weak transcription	NHEK	skin
25	chr5:112364200-112386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:112364600-112372200	Weak transcription	Fetal Kidney	kidney
27	chr5:112364600-112379000	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:112364800-112370400	Weak transcription	HMEC	breast
29	chr5:112364800-112378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:112364800-112382800	Weak transcription	Fetal Intestine Large	intestine
31	chr5:112364800-112382800	Weak transcription	Fetal Thymus	thymus
32	chr5:112365400-112371400	Enhancers	NH-A	brain
33	chr5:112365400-112372000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:112365600-112370000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:112365600-112370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:112365600-112372000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:112365600-112376400	Weak transcription	Primary T cells from cord blood	blood
38	chr5:112365800-112372000	Weak transcription	Esophagus	oesophagus
39	chr5:112365800-112376800	Weak transcription	Thymus	Thymus
40	chr5:112365800-112382200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:112366000-112371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:112366600-112379200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:112367600-112370000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:112367600-112370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:112367600-112370400	Weak transcription	Right Atrium	heart
46	chr5:112367600-112371200	Weak transcription	Placenta	Placenta
47	chr5:112367600-112372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:112367600-112372200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:112367600-112372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:112367600-112378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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