Variant report

Variant	rs55992615
Chromosome Location	chr7:50564265-50564266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10499693	1.00[EUR][1000 genomes]
rs11575293	1.00[EUR][1000 genomes]
rs11575302	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575340	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575343	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575360	1.00[EUR][1000 genomes]
rs11575381	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575385	1.00[EUR][1000 genomes]
rs11575407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575447	1.00[EUR][1000 genomes]
rs11575493	1.00[EUR][1000 genomes]
rs11575494	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575501	1.00[EUR][1000 genomes]
rs11575502	1.00[EUR][1000 genomes]
rs11575503	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575504	1.00[EUR][1000 genomes]
rs11575505	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575507	1.00[EUR][1000 genomes]
rs11575508	1.00[EUR][1000 genomes]
rs11575510	1.00[EUR][1000 genomes]
rs11575511	1.00[EUR][1000 genomes]
rs11575512	1.00[EUR][1000 genomes]
rs11575514	1.00[EUR][1000 genomes]
rs11575518	1.00[EUR][1000 genomes]
rs11575519	1.00[EUR][1000 genomes]
rs11575522	1.00[EUR][1000 genomes]
rs11575523	1.00[EUR][1000 genomes]
rs11575527	1.00[EUR][1000 genomes]
rs11575537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575540	1.00[EUR][1000 genomes]
rs11575542	1.00[EUR][1000 genomes]
rs11575543	1.00[EUR][1000 genomes]
rs11575546	1.00[EUR][1000 genomes]
rs11575547	1.00[EUR][1000 genomes]
rs11575549	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978797	0.92[EUR][1000 genomes]
rs11981575	1.00[EUR][1000 genomes]
rs11982708	1.00[EUR][1000 genomes]
rs11982772	1.00[EUR][1000 genomes]
rs11982776	0.92[EUR][1000 genomes]
rs11983581	1.00[EUR][1000 genomes]
rs11983757	1.00[EUR][1000 genomes]
rs12112308	1.00[EUR][1000 genomes]
rs12113897	0.84[EUR][1000 genomes]
rs2329370	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3173669	0.92[EUR][1000 genomes]
rs55869201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56030652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56951986	0.85[AMR][1000 genomes]
rs57167849	0.92[EUR][1000 genomes]
rs57835901	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57927451	0.85[AMR][1000 genomes]
rs59150746	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59828622	0.92[EUR][1000 genomes]
rs6956737	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6975312	1.00[EUR][1000 genomes]
rs6978556	0.92[EUR][1000 genomes]
rs73695512	1.00[EUR][1000 genomes]
rs73695638	0.84[EUR][1000 genomes]
rs73695639	0.92[EUR][1000 genomes]
rs73695640	0.92[EUR][1000 genomes]
rs73695641	0.92[EUR][1000 genomes]
rs73695643	0.92[EUR][1000 genomes]
rs73695661	0.92[EUR][1000 genomes]
rs73695664	0.92[EUR][1000 genomes]
rs73695666	0.92[EUR][1000 genomes]
rs73695667	0.92[EUR][1000 genomes]
rs73695668	0.92[EUR][1000 genomes]
rs73695669	0.92[EUR][1000 genomes]
rs73695670	0.92[EUR][1000 genomes]
rs73695671	0.92[EUR][1000 genomes]
rs73695672	0.92[EUR][1000 genomes]
rs73695673	0.92[EUR][1000 genomes]
rs73695681	1.00[EUR][1000 genomes]
rs73695682	1.00[EUR][1000 genomes]
rs73695683	1.00[EUR][1000 genomes]
rs73695684	1.00[EUR][1000 genomes]
rs73695700	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695701	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695702	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73697528	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73697574	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs930707	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9942578	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50545800-50565800	Weak transcription	HepG2	liver
3	chr7:50548800-50564400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50559600-50564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:50560600-50566200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50562000-50564400	Weak transcription	Small Intestine	intestine
8	chr7:50562800-50566000	Enhancers	Fetal Intestine Large	intestine
9	chr7:50562800-50566200	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:50562800-50566200	Genic enhancers	Fetal Intestine Small	intestine
11	chr7:50563200-50564400	Weak transcription	Adipose Nuclei	Adipose
12	chr7:50563600-50566200	Enhancers	Duodenum Mucosa	Duodenum
13	chr7:50563800-50565200	Enhancers	Lung	lung
14	chr7:50563800-50566000	Enhancers	Stomach Mucosa	stomach
15	chr7:50564000-50565000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:50564000-50565400	Enhancers	Placenta	Placenta
17	chr7:50564000-50566200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:50564000-50566200	Enhancers	Ovary	ovary
19	chr7:50564200-50565000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:50564200-50565200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:50564200-50565200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:50564200-50565200	Enhancers	Gastric	stomach
23	chr7:50564200-50565200	Enhancers	Left Ventricle	heart
24	chr7:50564200-50565200	Enhancers	Right Atrium	heart
25	chr7:50564200-50565200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:50564200-50565200	Flanking Active TSS	K562	blood
27	chr7:50564200-50565400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:50564200-50565400	Flanking Active TSS	Hela-S3	cervix
29	chr7:50564200-50565600	Enhancers	Psoas Muscle	Psoas
30	chr7:50564200-50565600	Enhancers	Spleen	Spleen
31	chr7:50564200-50565800	Flanking Active TSS	HUVEC	blood vessel
32	chr7:50564200-50566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:50564200-50566200	Enhancers	Skeletal Muscle Female	skeletal muscle

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