Variant report

Variant	rs62137965
Chromosome Location	chr2:54321050-54321051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54320228..54322780-chr2:54323373..54326100,2	K562	blood:
2	chr2:54314163..54315744-chr2:54319070..54321460,2	MCF-7	breast:
3	chr2:54320518..54322524-chr2:54324906..54326587,2	MCF-7	breast:
4	chr2:54318413..54321728-chr2:54322663..54325829,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10203576	0.81[ASN][1000 genomes]
rs10207537	0.84[ASN][1000 genomes]
rs1058320	0.89[ASN][1000 genomes]
rs1075265	0.85[ASN][1000 genomes]
rs10865277	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10865278	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10865279	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11125520	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11695734	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11887549	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11888384	0.86[ASN][1000 genomes]
rs11896781	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1363062	0.83[ASN][1000 genomes]
rs1421622	0.83[ASN][1000 genomes]
rs1559037	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1833497	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1833498	0.89[ASN][1000 genomes]
rs1862121	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1862122	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1877906	0.83[ASN][1000 genomes]
rs2018747	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2042143	0.86[ASN][1000 genomes]
rs2048749	0.84[ASN][1000 genomes]
rs2112124	0.82[ASN][1000 genomes]
rs2287642	0.90[ASN][1000 genomes]
rs2357954	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34769118	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41385746	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4671178	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4671190	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671860	0.83[ASN][1000 genomes]
rs4671872	0.83[ASN][1000 genomes]
rs56001939	0.85[AMR][1000 genomes]
rs62137973	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6545384	0.88[ASN][1000 genomes]
rs6741891	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7558126	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7560947	0.89[ASN][1000 genomes]
rs7562055	0.86[ASN][1000 genomes]
rs7569743	0.83[ASN][1000 genomes]
rs7573491	0.86[ASN][1000 genomes]
rs7590846	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7591194	0.89[ASN][1000 genomes]
rs7600141	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7604357	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7607066	0.89[ASN][1000 genomes]
rs888635	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs918357	0.90[ASN][1000 genomes]
rs929734	0.86[ASN][1000 genomes]
rs959285	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs959286	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9808326	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
2	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:54305400-54321600	Weak transcription	Lung	lung
4	chr2:54311000-54324200	Weak transcription	HSMMtube	muscle
5	chr2:54315600-54322600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:54316200-54321800	Weak transcription	K562	blood
7	chr2:54318200-54330800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:54318200-54331000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54319000-54321800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:54319200-54321800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:54319400-54321400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:54319400-54321600	Enhancers	Primary T cells from cord blood	blood
13	chr2:54319400-54321800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:54319400-54322000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:54320400-54321200	Weak transcription	Fetal Thymus	thymus
16	chr2:54320400-54322000	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:54320400-54331000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:54320600-54321400	Enhancers	Primary B cells from cord blood	blood
19	chr2:54320600-54321600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:54320600-54321800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:54320600-54321800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:54320800-54321400	Enhancers	GM12878-XiMat	blood
23	chr2:54320800-54321800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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