Variant report

Variant	rs1316352
Chromosome Location	chr7:150346270-150346271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150345053..150347622-chr7:150357976..150360904,2	MCF-7	breast:
2	chr7:150341180..150342757-chr7:150345704..150347785,2	K562	blood:
3	chr7:150345226..150346892-chr7:150353382..150356343,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11764483	0.82[ASN][1000 genomes]
rs11769703	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs12154435	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154436	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154687	0.89[ASN][1000 genomes]
rs1234356	0.83[ASN][1000 genomes]
rs1234357	0.88[ASN][1000 genomes]
rs1234361	0.82[ASN][1000 genomes]
rs12397707	0.88[ASN][1000 genomes]
rs12532045	0.96[ASN][1000 genomes]
rs12535208	0.89[ASN][1000 genomes]
rs12703091	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13220967	0.89[ASN][1000 genomes]
rs13223607	0.82[ASN][1000 genomes]
rs13223653	0.82[ASN][1000 genomes]
rs13225905	0.96[ASN][1000 genomes]
rs13226190	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13230583	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13234724	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13238412	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13240099	0.89[ASN][1000 genomes]
rs13240106	0.89[ASN][1000 genomes]
rs1403220	0.96[ASN][1000 genomes]
rs1578916	0.82[ASN][1000 genomes]
rs17542143	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2204131	0.82[ASN][1000 genomes]
rs34030180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34079857	0.82[ASN][1000 genomes]
rs34097488	0.82[ASN][1000 genomes]
rs34176120	0.82[ASN][1000 genomes]
rs34396063	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585329	0.96[ASN][1000 genomes]
rs34940374	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35114152	0.82[ASN][1000 genomes]
rs35233281	0.82[ASN][1000 genomes]
rs35276692	0.82[ASN][1000 genomes]
rs35283918	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35285840	0.96[ASN][1000 genomes]
rs35329030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35342751	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35659213	0.82[ASN][1000 genomes]
rs35760614	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35873531	0.82[ASN][1000 genomes]
rs36020504	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065681	0.96[ASN][1000 genomes]
rs36200127	0.81[ASN][1000 genomes]
rs3735086	0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3807382	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4543461	0.82[ASN][1000 genomes]
rs4573169	0.82[ASN][1000 genomes]
rs55681398	0.83[ASN][1000 genomes]
rs56138121	0.96[ASN][1000 genomes]
rs56279394	0.96[ASN][1000 genomes]
rs56325059	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56412316	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729315	0.82[ASN][1000 genomes]
rs57899656	0.82[ASN][1000 genomes]
rs59468128	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62490361	0.96[ASN][1000 genomes]
rs62490366	0.96[ASN][1000 genomes]
rs62491810	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62491812	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62491814	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491829	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62502277	0.82[ASN][1000 genomes]
rs62502293	0.82[ASN][1000 genomes]
rs62502294	0.82[ASN][1000 genomes]
rs62503201	0.81[ASN][1000 genomes]
rs6951360	0.82[ASN][1000 genomes]
rs6978778	0.82[ASN][1000 genomes]
rs71539836	0.81[ASN][1000 genomes]
rs73474862	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954395	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150341800-150346800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150341800-150347000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr7:150341800-150347200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:150341800-150347200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:150341800-150347200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr7:150342200-150346600	Enhancers	Primary T cells from cord blood	blood
7	chr7:150342800-150347400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr7:150344000-150347000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:150344000-150347000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:150344400-150346600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:150344800-150346800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:150344800-150347000	Enhancers	GM12878-XiMat	blood
13	chr7:150345000-150346400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:150345400-150346800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:150345800-150346400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:150345800-150346400	Enhancers	Placenta	Placenta
17	chr7:150345800-150346600	Enhancers	Fetal Thymus	thymus
18	chr7:150345800-150346800	Enhancers	Dnd41	blood
19	chr7:150346000-150346400	Enhancers	Lung	lung
20	chr7:150346000-150346800	Enhancers	Left Ventricle	heart
21	chr7:150346000-150346800	Enhancers	Right Ventricle	heart

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