Variant report

Variant	rs73695639
Chromosome Location	chr7:50480338-50480339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50473369..50477129-chr7:50477815..50481019,4	K562	blood:
2	chr7:50475535..50477063-chr7:50479519..50481899,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10499693	0.92[EUR][1000 genomes]
rs11575293	0.92[EUR][1000 genomes]
rs11575302	0.92[EUR][1000 genomes]
rs11575340	0.92[EUR][1000 genomes]
rs11575343	0.92[EUR][1000 genomes]
rs11575360	0.92[EUR][1000 genomes]
rs11575381	0.92[EUR][1000 genomes]
rs11575385	0.92[EUR][1000 genomes]
rs11575407	0.92[EUR][1000 genomes]
rs11575447	0.92[EUR][1000 genomes]
rs11575493	0.92[EUR][1000 genomes]
rs11575494	0.92[EUR][1000 genomes]
rs11575501	0.92[EUR][1000 genomes]
rs11575502	0.92[EUR][1000 genomes]
rs11575503	0.92[EUR][1000 genomes]
rs11575504	0.92[EUR][1000 genomes]
rs11575505	0.92[EUR][1000 genomes]
rs11575507	0.92[EUR][1000 genomes]
rs11575508	0.92[EUR][1000 genomes]
rs11575510	0.92[EUR][1000 genomes]
rs11575511	0.92[EUR][1000 genomes]
rs11575512	0.92[EUR][1000 genomes]
rs11575514	0.92[EUR][1000 genomes]
rs11575518	0.92[EUR][1000 genomes]
rs11575519	0.92[EUR][1000 genomes]
rs11575522	0.92[EUR][1000 genomes]
rs11575523	0.92[EUR][1000 genomes]
rs11575527	0.92[EUR][1000 genomes]
rs11575537	0.92[EUR][1000 genomes]
rs11575540	0.92[EUR][1000 genomes]
rs11575542	0.92[EUR][1000 genomes]
rs11575543	0.92[EUR][1000 genomes]
rs11575546	0.92[EUR][1000 genomes]
rs11575547	0.92[EUR][1000 genomes]
rs11575549	0.92[EUR][1000 genomes]
rs11978797	0.85[EUR][1000 genomes]
rs11981575	0.92[EUR][1000 genomes]
rs11982708	0.92[EUR][1000 genomes]
rs11982772	0.92[EUR][1000 genomes]
rs11982776	0.85[EUR][1000 genomes]
rs11983581	0.92[EUR][1000 genomes]
rs11983757	0.92[EUR][1000 genomes]
rs12112308	0.92[EUR][1000 genomes]
rs12112451	0.91[AMR][1000 genomes]
rs12113897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2329370	0.92[EUR][1000 genomes]
rs3173669	1.00[EUR][1000 genomes]
rs55864329	0.90[AMR][1000 genomes]
rs55869201	0.92[EUR][1000 genomes]
rs55992615	0.92[EUR][1000 genomes]
rs56030652	0.92[EUR][1000 genomes]
rs56948134	1.00[AMR][1000 genomes]
rs57167849	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57835901	0.92[EUR][1000 genomes]
rs59150746	0.92[EUR][1000 genomes]
rs59828622	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833957	1.00[AMR][1000 genomes]
rs6956737	0.92[EUR][1000 genomes]
rs6975312	0.92[EUR][1000 genomes]
rs6978556	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695512	0.92[EUR][1000 genomes]
rs73695621	0.90[AMR][1000 genomes]
rs73695635	1.00[AMR][1000 genomes]
rs73695636	1.00[AMR][1000 genomes]
rs73695637	1.00[AMR][1000 genomes]
rs73695638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73695640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695661	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695664	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695666	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695667	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695669	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695670	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695671	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695672	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695673	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695681	0.92[EUR][1000 genomes]
rs73695682	0.92[EUR][1000 genomes]
rs73695683	0.92[EUR][1000 genomes]
rs73695684	0.92[EUR][1000 genomes]
rs73695700	0.92[EUR][1000 genomes]
rs73695701	0.92[EUR][1000 genomes]
rs73695702	0.92[EUR][1000 genomes]
rs73697528	0.92[EUR][1000 genomes]
rs73697574	0.92[EUR][1000 genomes]
rs7789106	0.80[AMR][1000 genomes]
rs930707	0.92[EUR][1000 genomes]
rs9942578	0.89[AFR][1000 genomes];1.00[EUR][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	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	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50469000-50480600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:50470600-50485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:50472200-50483800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:50472400-50486400	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:50474400-50483600	Enhancers	Primary B cells from cord blood	blood
6	chr7:50475400-50483800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:50478400-50483000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:50478600-50480400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:50478600-50481600	Enhancers	GM12878-XiMat	blood
10	chr7:50478600-50482800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:50478600-50483200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:50478600-50483400	Weak transcription	Primary T cells from cord blood	blood
13	chr7:50478600-50483400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:50478600-50483600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:50478800-50483800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:50479000-50480400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:50479200-50480400	Weak transcription	Spleen	Spleen
18	chr7:50479200-50483600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr7:50479400-50480400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:50479400-50483000	Weak transcription	Thymus	Thymus
21	chr7:50479400-50483400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:50479400-50483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:50479600-50480800	Weak transcription	Fetal Thymus	thymus
24	chr7:50479600-50483200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:50479600-50483200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:50479600-50483400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr7:50479600-50483600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:50480200-50481800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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