Variant report

Variant	rs73135418
Chromosome Location	chr5:96305516-96305517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96269146..96273462-chr5:96303076..96306063,4	K562	blood:
2	chr5:96270323..96273462-chr5:96303573..96306063,3	K562	blood:
3	chr5:96298450..96301775-chr5:96302715..96306626,4	K562	blood:
4	chr5:96299898..96301682-chr5:96303117..96306116,2	MCF-7	breast:
5	chr5:96269421..96271769-chr5:96303403..96305947,2	MCF-7	breast:
6	chr5:96298450..96300719-chr5:96305126..96306845,2	K562	blood:
7	chr5:96303050..96305994-chr5:96318731..96320478,2	K562	blood:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000200884	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1423567	1.00[AMR][1000 genomes]
rs59959433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135403	0.94[AFR][1000 genomes]
rs73135411	1.00[AMR][1000 genomes]
rs73135415	1.00[AMR][1000 genomes]
rs73135420	1.00[AMR][1000 genomes]
rs73135421	1.00[AMR][1000 genomes]
rs73135423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135424	1.00[AMR][1000 genomes]
rs73137399	1.00[AMR][1000 genomes]
rs73139219	1.00[AMR][1000 genomes]
rs73139226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139238	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139248	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73139255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73141126	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73152163	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
2	chr5:96298000-96309200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:96298600-96307800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:96299000-96307800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:96299400-96305800	Enhancers	Primary T cells from cord blood	blood
6	chr5:96299400-96308200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr5:96299400-96314800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:96299400-96315000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:96299600-96315000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:96299800-96307800	Weak transcription	Thymus	Thymus
11	chr5:96299800-96308000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:96299800-96308200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:96299800-96314800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:96300000-96306400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:96301200-96307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:96301600-96311400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:96302600-96308600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:96303000-96313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:96303400-96307800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:96303400-96308000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:96303600-96305600	Enhancers	Brain Hippocampus Middle	brain
22	chr5:96303600-96308000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:96303600-96309200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:96303800-96306400	Enhancers	GM12878-XiMat	blood
25	chr5:96303800-96308400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:96304600-96307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:96304600-96307800	Weak transcription	Right Ventricle	heart
28	chr5:96304600-96308000	Weak transcription	Gastric	stomach
29	chr5:96304600-96308000	Weak transcription	Spleen	Spleen
30	chr5:96304600-96308200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:96304600-96309800	Weak transcription	Esophagus	oesophagus
32	chr5:96304600-96309800	Weak transcription	Fetal Stomach	stomach
33	chr5:96304600-96314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:96304600-96315000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:96304600-96315000	Weak transcription	Brain Germinal Matrix	brain
36	chr5:96304600-96315000	Weak transcription	Pancreas	Pancrea
37	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
38	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
39	chr5:96304800-96306800	Weak transcription	Dnd41	blood
40	chr5:96304800-96308000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:96304800-96308000	Weak transcription	Fetal Thymus	thymus
42	chr5:96304800-96309400	Weak transcription	HSMMtube	muscle
43	chr5:96304800-96309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:96304800-96309800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:96304800-96314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:96304800-96314400	Weak transcription	Fetal Intestine Small	intestine
47	chr5:96304800-96314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:96304800-96315000	Weak transcription	Aorta	Aorta
49	chr5:96304800-96315000	Weak transcription	HepG2	liver
50	chr5:96304800-96315200	Weak transcription	Fetal Kidney	kidney

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