Variant report

Variant	rs71521598
Chromosome Location	chr8:42657798-42657799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42644691..42646706-chr8:42657685..42660504,2	K562	blood:
2	chr8:42657139..42659070-chr8:42663276..42665095,2	K562	blood:
3	chr8:42644913..42646706-chr8:42656297..42659185,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs13249741	1.00[AFR][1000 genomes]
rs13252221	1.00[AFR][1000 genomes]
rs13256221	1.00[AFR][1000 genomes]
rs13260731	1.00[AFR][1000 genomes]
rs13269584	1.00[AFR][1000 genomes]
rs13273189	1.00[AFR][1000 genomes]
rs13273989	1.00[AFR][1000 genomes]
rs13276821	1.00[AFR][1000 genomes]
rs13281651	1.00[AFR][1000 genomes]
rs17622577	1.00[AFR][1000 genomes]
rs17622732	1.00[AFR][1000 genomes]
rs34044853	1.00[AFR][1000 genomes]
rs34046390	0.83[EUR][1000 genomes]
rs34133016	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34143633	1.00[AFR][1000 genomes]
rs34152125	1.00[AFR][1000 genomes]
rs34208103	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34210297	1.00[AFR][1000 genomes]
rs34242561	1.00[AFR][1000 genomes]
rs34320052	1.00[AFR][1000 genomes]
rs34550994	1.00[AFR][1000 genomes]
rs34582788	1.00[AFR][1000 genomes]
rs35236316	1.00[AFR][1000 genomes]
rs35258203	1.00[AFR][1000 genomes]
rs35278935	1.00[AFR][1000 genomes]
rs35390123	1.00[AFR][1000 genomes]
rs35491765	1.00[AFR][1000 genomes]
rs35823486	1.00[AFR][1000 genomes]
rs36026629	1.00[AFR][1000 genomes]
rs36091568	1.00[AFR][1000 genomes]
rs62515895	1.00[AFR][1000 genomes]
rs62515900	1.00[AFR][1000 genomes]
rs62515905	1.00[AFR][1000 genomes]
rs62515908	1.00[AFR][1000 genomes]
rs62515909	1.00[AFR][1000 genomes]
rs62515910	1.00[AFR][1000 genomes]
rs62515912	1.00[AFR][1000 genomes]
rs62515913	1.00[AFR][1000 genomes]
rs62515916	1.00[AFR][1000 genomes]
rs62515917	1.00[AFR][1000 genomes]
rs62515948	1.00[AFR][1000 genomes]
rs62515952	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42645800-42658600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:42647800-42660200	Weak transcription	Right Atrium	heart
3	chr8:42652400-42660600	Weak transcription	Placenta	Placenta
4	chr8:42652800-42660200	Weak transcription	Thymus	Thymus
5	chr8:42653200-42658000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:42653200-42658400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:42655200-42658800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:42655400-42660800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:42655600-42658000	Enhancers	HepG2	liver
10	chr8:42655600-42659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:42656000-42658400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:42656400-42658400	Enhancers	GM12878-XiMat	blood
13	chr8:42656400-42658600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:42656800-42658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:42656800-42658800	Weak transcription	Fetal Thymus	thymus
16	chr8:42656800-42658800	Weak transcription	Ovary	ovary
17	chr8:42656800-42660000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:42656800-42660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:42656800-42660600	Enhancers	Primary B cells from cord blood	blood
20	chr8:42657000-42659000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:42657000-42659800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:42657000-42660000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:42657000-42660200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:42657000-42660200	Weak transcription	Dnd41	blood
25	chr8:42657200-42658600	Weak transcription	Primary T cells from cord blood	blood
26	chr8:42657200-42658600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:42657200-42658600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:42657200-42658800	Weak transcription	Fetal Kidney	kidney
29	chr8:42657600-42660000	Weak transcription	Liver	Liver

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