Variant report

Variant	rs73135421
Chromosome Location	chr5:96311272-96311273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96305644..96307461-chr5:96310426..96312705,2	MCF-7	breast:
2	chr5:96270217..96273179-chr5:96309758..96312236,2	MCF-7	breast:
3	chr5:96288865..96290845-chr5:96309578..96312231,2	K562	blood:
4	chr5:96300540..96303840-chr5:96308745..96312405,3	K562	blood:
5	chr5:96310026..96312813-chr5:96345065..96347479,2	K562	blood:

Variant related genes	Relation type
ENSG00000247121	Chromatin interaction
ENSG00000113441	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1423567	1.00[AMR][1000 genomes]
rs59959433	1.00[AMR][1000 genomes]
rs73135411	1.00[AMR][1000 genomes]
rs73135415	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135418	1.00[AMR][1000 genomes]
rs73135420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73135423	1.00[AMR][1000 genomes]
rs73135424	1.00[AMR][1000 genomes]
rs73137399	1.00[AMR][1000 genomes]
rs73139219	1.00[AMR][1000 genomes]
rs73139226	1.00[AMR][1000 genomes]
rs73139235	1.00[AMR][1000 genomes]
rs73139238	1.00[AMR][1000 genomes]
rs73139248	1.00[AMR][1000 genomes]
rs73139255	1.00[AMR][1000 genomes]
rs73141126	1.00[AMR][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:104 , 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	chr5:96299400-96314800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:96299400-96315000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:96299600-96315000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:96299800-96314800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:96301600-96311400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:96303000-96313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:96304600-96314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:96304600-96315000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:96304600-96315000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:96304600-96315000	Weak transcription	Pancreas	Pancrea
12	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
13	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
14	chr5:96304800-96314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:96304800-96314400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:96304800-96314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:96304800-96315000	Weak transcription	Aorta	Aorta
18	chr5:96304800-96315000	Weak transcription	HepG2	liver
19	chr5:96304800-96315200	Weak transcription	Fetal Kidney	kidney
20	chr5:96304800-96346600	Weak transcription	Lung	lung
21	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
22	chr5:96305000-96313000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:96305000-96315000	Weak transcription	A549	lung
24	chr5:96305400-96311400	Weak transcription	Brain Substantia Nigra	brain
25	chr5:96305400-96312800	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:96305400-96312800	Weak transcription	Fetal Lung	lung
27	chr5:96305400-96312800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:96305400-96313000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:96305400-96313000	Weak transcription	Ovary	ovary
30	chr5:96305400-96313200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:96305400-96314200	Weak transcription	Osteobl	bone
32	chr5:96305400-96314400	Weak transcription	NH-A	brain
33	chr5:96305400-96314800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:96305400-96314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:96305400-96314800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:96305400-96314800	Weak transcription	Liver	Liver
37	chr5:96305400-96315000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:96305400-96315000	Weak transcription	Brain Angular Gyrus	brain
39	chr5:96305400-96315000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:96305400-96315000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:96305400-96315000	Weak transcription	HUVEC	blood vessel
42	chr5:96305400-96315200	Weak transcription	HMEC	breast
43	chr5:96305400-96315200	Weak transcription	NHEK	skin
44	chr5:96305400-96334200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:96305600-96313000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:96306200-96311400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:96306200-96315600	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:96306800-96314200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:96307800-96313400	Enhancers	Fetal Heart	heart
50	chr5:96308000-96313600	Enhancers	Skeletal Muscle Male	skeletal muscle

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