Variant report

Variant	rs73152145
Chromosome Location	chr5:96259845-96259846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96254910..96258387-chr5:96259473..96261476,3	K562	blood:
2	chr5:96254195..96257346-chr5:96259220..96261586,3	MCF-7	breast:
3	chr5:96257613..96260808-chr5:96268504..96273197,4	MCF-7	breast:
4	chr5:96196694..96198422-chr5:96257589..96259904,2	K562	blood:
5	chr5:96258616..96260884-chr5:96271149..96273884,4	MCF-7	breast:
6	chr5:96255625..96258387-chr5:96259524..96261476,2	K562	blood:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs60561288	1.00[AMR][1000 genomes]
rs60603456	0.87[AFR][1000 genomes]
rs60878093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135403	1.00[AMR][1000 genomes]
rs73150385	1.00[AMR][1000 genomes]
rs73152130	1.00[AMR][1000 genomes]
rs73152143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152153	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152158	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73152163	1.00[AMR][1000 genomes]
rs7715183	1.00[AFR][1000 genomes];1.00[AMR][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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96218000-96264600	Weak transcription	Right Ventricle	heart
2	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
3	chr5:96222000-96268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:96225600-96266400	Weak transcription	Gastric	stomach
5	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
6	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
7	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:96237800-96265000	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:96239800-96268000	Weak transcription	Colonic Mucosa	Colon
10	chr5:96242200-96268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:96243600-96266400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:96245800-96264600	Weak transcription	Left Ventricle	heart
13	chr5:96246000-96268200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:96249600-96267800	Weak transcription	Fetal Intestine Large	intestine
16	chr5:96249800-96264600	Weak transcription	Spleen	Spleen
17	chr5:96249800-96270000	Weak transcription	Lung	lung
18	chr5:96253800-96265800	Weak transcription	Thymus	Thymus
19	chr5:96254000-96267200	Weak transcription	Adipose Nuclei	Adipose
20	chr5:96254000-96268600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:96254800-96262600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr5:96256000-96260600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:96256000-96266400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:96256200-96260800	Weak transcription	Liver	Liver
25	chr5:96256200-96264000	Weak transcription	Dnd41	blood
26	chr5:96256200-96267000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:96256400-96266600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:96257200-96265800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:96257400-96269600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:96257600-96262000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr5:96257800-96267400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr5:96258400-96264200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:96258600-96260000	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:96258600-96262000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:96258600-96264000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:96258800-96267600	Weak transcription	Brain Substantia Nigra	brain
37	chr5:96259200-96261000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:96259200-96261400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:96259200-96261400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:96259200-96262400	Enhancers	GM12878-XiMat	blood
41	chr5:96259400-96260000	Enhancers	Primary T cells from cord blood	blood
42	chr5:96259400-96260200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:96259600-96260000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:96259600-96260000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:96259600-96260000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:96259600-96260000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:96259600-96260000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:96259600-96260000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:96259600-96260200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:96259600-96260200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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