Variant report

Variant	rs1630082
Chromosome Location	chr5:112048810-112048811
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112042876..112045177-chr5:112046298..112050901,7	K562	blood:
2	chr5:112048029..112050157-chr5:112062177..112064729,3	K562	blood:
3	chr5:112040661..112045747-chr5:112046493..112054139,9	MCF-7	breast:
4	chr5:112041577..112049243-chr5:112069735..112074802,8	K562	blood:
5	chr5:112048029..112050157-chr5:112062622..112064729,2	K562	blood:
6	chr5:112043010..112045071-chr5:112047390..112050784,5	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1616230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62623577	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112044200-112049400	Weak transcription	Esophagus	oesophagus
2	chr5:112044400-112049200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr5:112044400-112049800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:112044800-112049400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:112044800-112050200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr5:112044800-112052200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:112044800-112058000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:112044800-112058800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:112045000-112049600	Enhancers	Psoas Muscle	Psoas
10	chr5:112045200-112049800	Weak transcription	A549	lung
11	chr5:112045200-112053200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:112045200-112054000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:112045400-112050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:112045400-112051000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:112045400-112052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:112045400-112053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:112045400-112054400	Weak transcription	NHEK	skin
18	chr5:112045400-112062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:112045600-112049000	Weak transcription	HSMM	muscle
20	chr5:112045600-112054000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:112045600-112054600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:112045600-112060200	Weak transcription	NHLF	lung
23	chr5:112045600-112061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:112045600-112063600	Weak transcription	Ovary	ovary
25	chr5:112045800-112049000	Weak transcription	Liver	Liver
26	chr5:112045800-112054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:112046000-112049200	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:112046000-112049600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:112046000-112050600	Weak transcription	Fetal Kidney	kidney
30	chr5:112046000-112054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:112046200-112050200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:112046400-112049400	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:112046400-112051800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:112046400-112053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:112046600-112049600	Enhancers	Left Ventricle	heart
37	chr5:112046800-112049000	Weak transcription	Spleen	Spleen
38	chr5:112046800-112050400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:112046800-112053200	Weak transcription	Fetal Lung	lung
40	chr5:112047000-112049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:112047000-112049400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:112047000-112060400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:112047000-112061600	Weak transcription	Aorta	Aorta
44	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:112047200-112052400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:112047200-112054000	Weak transcription	Right Ventricle	heart
47	chr5:112047400-112049000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:112047400-112049000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:112047400-112049000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:112047400-112049600	Weak transcription	Primary B cells from cord blood	blood

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