Variant report

Variant	rs57681369
Chromosome Location	chr5:80758727-80758728
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80757422..80759303-chr5:80761432..80763460,2	K562	blood:
2	chr5:80757299..80759638-chr5:80770497..80773294,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10036942	0.89[ASN][1000 genomes]
rs10050981	0.89[ASN][1000 genomes]
rs10054360	0.89[ASN][1000 genomes]
rs10056236	0.89[ASN][1000 genomes]
rs10060208	0.89[ASN][1000 genomes]
rs10060828	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474035	0.89[ASN][1000 genomes]
rs10514221	0.89[ASN][1000 genomes]
rs13354281	0.89[ASN][1000 genomes]
rs16898989	0.89[ASN][1000 genomes]
rs28546170	0.89[ASN][1000 genomes]
rs56414093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57587453	0.89[ASN][1000 genomes]
rs58652756	0.89[ASN][1000 genomes]
rs61511117	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61561045	0.89[ASN][1000 genomes]
rs6452405	0.87[ASN][1000 genomes]
rs6452417	0.89[ASN][1000 genomes]
rs6869839	0.89[ASN][1000 genomes]
rs6872668	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875373	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6875430	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6884379	0.89[ASN][1000 genomes]
rs6887061	0.89[ASN][1000 genomes]
rs6893886	0.89[ASN][1000 genomes]
rs6896772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897373	0.89[ASN][1000 genomes]
rs6898968	0.89[ASN][1000 genomes]
rs73133677	0.89[ASN][1000 genomes]
rs73135608	0.89[ASN][1000 genomes]
rs73766239	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703543	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7717767	0.89[ASN][1000 genomes]
rs9293277	0.89[ASN][1000 genomes]
rs9641	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986216	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80713600-80769200	Weak transcription	Esophagus	oesophagus
3	chr5:80716200-80767800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:80716800-80768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:80717200-80769200	Weak transcription	Right Ventricle	heart
6	chr5:80718000-80768800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80719000-80769200	Weak transcription	HSMMtube	muscle
8	chr5:80722400-80768800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:80722400-80768800	Weak transcription	Fetal Brain Female	brain
10	chr5:80722600-80767600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:80722600-80768000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:80722600-80768200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:80722600-80769000	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:80722600-80769000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:80722600-80769000	Weak transcription	Fetal Brain Male	brain
16	chr5:80722600-80769000	Weak transcription	Psoas Muscle	Psoas
17	chr5:80722600-80769200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:80729600-80769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:80729800-80769200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:80730600-80767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:80731400-80768800	Weak transcription	Fetal Kidney	kidney
22	chr5:80731800-80769200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
24	chr5:80736000-80771200	Weak transcription	NHDF-Ad	bronchial
25	chr5:80736400-80768800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:80738200-80768400	Weak transcription	Brain Germinal Matrix	brain
27	chr5:80739200-80769000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:80739600-80768800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr5:80739800-80773200	Strong transcription	Fetal Thymus	thymus
30	chr5:80740400-80768000	Weak transcription	Left Ventricle	heart
31	chr5:80740400-80769400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:80745200-80771400	Weak transcription	Gastric	stomach
33	chr5:80746800-80769000	Weak transcription	Pancreas	Pancrea
34	chr5:80747000-80768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:80747000-80769600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:80747200-80768800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:80747200-80768800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:80747200-80769600	Weak transcription	HMEC	breast
39	chr5:80748400-80759800	Weak transcription	Stomach Mucosa	stomach
40	chr5:80748600-80771200	Weak transcription	Lung	lung
41	chr5:80749000-80769200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:80749200-80763600	Weak transcription	Fetal Heart	heart
43	chr5:80749200-80768600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:80750400-80768000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:80750400-80768400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:80750600-80768400	Weak transcription	Fetal Stomach	stomach
47	chr5:80751000-80768600	Weak transcription	Adipose Nuclei	Adipose
48	chr5:80751000-80768600	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:80751000-80768800	Weak transcription	Fetal Lung	lung
50	chr5:80753600-80769200	Weak transcription	Brain Angular Gyrus	brain

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