Variant report

Variant	rs73242978
Chromosome Location	chr5:118511715-118511716
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118506899..118509414-chr5:118511277..118513937,2	MCF-7	breast:
2	chr5:118508746..118512101-chr5:118513302..118516471,4	K562	blood:
3	chr5:118510458..118512160-chr5:118512976..118516180,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17144978	0.91[ASN][1000 genomes]
rs17145004	0.91[ASN][1000 genomes]
rs2055620	0.82[ASN][1000 genomes]
rs2197797	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4421136	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58506278	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6860412	0.91[AMR][1000 genomes]
rs6869894	1.00[ASN][1000 genomes]
rs73242987	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7719887	0.81[AMR][1000 genomes];1.00[ASN][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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
5	chr5:118483000-118541400	Weak transcription	NHEK	skin
6	chr5:118485400-118522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:118485600-118515800	Weak transcription	Hela-S3	cervix
8	chr5:118485800-118515600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
11	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
13	chr5:118486200-118513000	Weak transcription	Brain Germinal Matrix	brain
14	chr5:118486200-118526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:118486600-118515800	Weak transcription	Osteobl	bone
17	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
18	chr5:118490400-118512400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:118490600-118515800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:118490800-118513800	Weak transcription	Brain Anterior Caudate	brain
21	chr5:118490800-118515400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:118490800-118526000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:118490800-118526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:118490800-118532000	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:118491000-118515400	Weak transcription	Brain Substantia Nigra	brain
26	chr5:118491200-118532400	Weak transcription	Fetal Kidney	kidney
27	chr5:118493400-118528000	Weak transcription	Fetal Brain Female	brain
28	chr5:118494600-118534600	Weak transcription	Psoas Muscle	Psoas
29	chr5:118497000-118512600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:118497000-118514600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:118497200-118532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:118497800-118513600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:118497800-118513600	Weak transcription	Pancreas	Pancrea
34	chr5:118497800-118534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:118497800-118535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:118498000-118513600	Weak transcription	Gastric	stomach
37	chr5:118498000-118513600	Weak transcription	Ovary	ovary
38	chr5:118498000-118534400	Weak transcription	Lung	lung
39	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
40	chr5:118498400-118513000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:118499800-118534400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:118501400-118515400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:118501600-118513600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:118501800-118513600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:118501800-118513600	Weak transcription	Esophagus	oesophagus
46	chr5:118501800-118513600	Weak transcription	Thymus	Thymus
47	chr5:118501800-118513800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:118501800-118515600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:118501800-118515800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:118501800-118515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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