Variant report

Variant	rs72971714
Chromosome Location	chr2:101260954-101260955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101259734..101262319-chr2:101262984..101265264,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10197594	1.00[EUR][1000 genomes]
rs10496349	0.84[ASN][1000 genomes]
rs11888428	1.00[EUR][1000 genomes]
rs11898633	0.83[EUR][1000 genomes]
rs11901892	1.00[EUR][1000 genomes]
rs13392425	1.00[EUR][1000 genomes]
rs17024550	0.84[ASN][1000 genomes]
rs17024553	0.84[ASN][1000 genomes]
rs17024557	0.84[ASN][1000 genomes]
rs17024599	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34127796	1.00[EUR][1000 genomes]
rs4638814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58227608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58488423	1.00[ASN][1000 genomes]
rs60974130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61211218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6744622	1.00[EUR][1000 genomes]
rs72969815	0.84[ASN][1000 genomes]
rs72969818	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72969895	0.95[AFR][1000 genomes]
rs72971703	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72971719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72977500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72979410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72979416	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72982877	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73967606	0.83[EUR][1000 genomes]
rs73967607	0.83[EUR][1000 genomes]
rs73967611	0.83[EUR][1000 genomes]
rs73967613	0.83[EUR][1000 genomes]
rs73967614	0.83[EUR][1000 genomes]
rs73967615	0.83[EUR][1000 genomes]
rs73967635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7590637	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv834314	chr2:101210940-101410477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:101256000-101262200	Enhancers	Fetal Thymus	thymus
2	chr2:101257000-101262200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:101257600-101261000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:101258600-101261000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:101258800-101261600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:101258800-101262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:101259200-101261200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:101259400-101261800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:101260200-101261200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:101260400-101261000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:101260400-101261400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr2:101260400-101261400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:101260400-101261400	Flanking Active TSS	Dnd41	blood
14	chr2:101260600-101261200	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:101260600-101261200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:101260600-101261400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr2:101260600-101261600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:101260800-101261000	Flanking Active TSS	Thymus	Thymus
19	chr2:101260800-101261200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:101260800-101261200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:101260800-101261400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr2:101260800-101261400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:101260800-101261400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr2:101260800-101261400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr2:101260800-101261400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr2:101260800-101261400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr2:101260800-101261600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr2:101260800-101261600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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