Variant report

Variant	rs72817141
Chromosome Location	chr5:114959944-114959945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:
2	chr5:114943938..114945936-chr5:114958072..114960009,2	K562	blood:
3	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
4	chr5:114919821..114922254-chr5:114958227..114960432,2	K562	blood:
5	chr5:114823713..114825523-chr5:114959295..114961713,2	K562	blood:
6	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
7	chr5:114958936..114960751-chr5:115402229..115404106,2	K562	blood:
8	chr5:114959625..114963439-chr5:115175786..115178902,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249944	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000249249	Chromatin interaction
ENSG00000145782	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs72815264	1.00[AFR][1000 genomes]
rs72817114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72817124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:114938800-114960000	Weak transcription	Lung	lung
4	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114952400-114960200	Weak transcription	Esophagus	oesophagus
6	chr5:114954400-114960200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:114956400-114960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:114956400-114960200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:114956800-114960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:114957200-114960000	Enhancers	Fetal Brain Male	brain
11	chr5:114957200-114960000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr5:114957200-114960000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:114957400-114960200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:114957400-114960400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:114957600-114960000	Weak transcription	Gastric	stomach
16	chr5:114958000-114960000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr5:114958000-114960000	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:114958000-114960200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:114958000-114960200	Enhancers	Ovary	ovary
20	chr5:114958000-114960200	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr5:114958000-114960400	Enhancers	Fetal Heart	heart
22	chr5:114958000-114960600	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:114958000-114960600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:114958000-114961200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:114958200-114960000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:114958200-114960000	Enhancers	Brain Anterior Caudate	brain
27	chr5:114958200-114960200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:114958200-114960200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr5:114958200-114960200	Enhancers	Brain Substantia Nigra	brain
30	chr5:114958200-114960400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr5:114958400-114960000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:114958400-114960000	Enhancers	Stomach Mucosa	stomach
33	chr5:114958400-114960400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:114958600-114960600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:114958600-114960800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:114958800-114960000	Enhancers	Primary T cells from cord blood	blood
37	chr5:114958800-114960000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:114958800-114960000	Enhancers	Colon Smooth Muscle	Colon
39	chr5:114958800-114960200	Enhancers	Primary B cells from cord blood	blood
40	chr5:114958800-114960200	Flanking Active TSS	HepG2	liver
41	chr5:114958800-114960400	Transcr. at gene 5' and 3'	K562	blood
42	chr5:114958800-114960600	Enhancers	Spleen	Spleen
43	chr5:114958800-114960800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:114958800-114960800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr5:114958800-114961000	Flanking Active TSS	Liver	Liver
46	chr5:114958800-114962400	Active TSS	Aorta	Aorta
47	chr5:114959000-114960000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:114959000-114960000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr5:114959000-114960000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:114959000-114960000	Enhancers	Brain Angular Gyrus	brain

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