Variant report

Variant	rs6984252
Chromosome Location	chr8:42644651-42644652
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42642831..42645639-chr8:42647250..42648980,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10087172	0.86[AMR][1000 genomes]
rs10092346	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10105699	0.90[ASN][1000 genomes]
rs10107450	0.92[AMR][1000 genomes]
rs10108797	0.85[AMR][1000 genomes]
rs10109040	0.86[AMR][1000 genomes]
rs10110332	0.82[AMR][1000 genomes]
rs11986893	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995030	0.86[AMR][1000 genomes]
rs1960346	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082591	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2117225	0.86[AMR][1000 genomes]
rs2217732	0.83[AMR][1000 genomes]
rs28501554	0.85[AMR][1000 genomes]
rs28784665	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826992	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34996273	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4509313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737068	0.86[AMR][1000 genomes]
rs4737071	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56395510	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6474418	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6474420	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6999449	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7000412	0.83[AMR][1000 genomes]
rs7001753	0.83[AMR][1000 genomes]
rs7003968	0.92[ASN][1000 genomes]
rs7005126	0.94[ASN][1000 genomes]
rs7015935	0.81[AMR][1000 genomes]
rs7825261	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7826201	0.89[ASN][1000 genomes]
rs7831096	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841834	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845365	0.92[ASN][1000 genomes]
rs892413	0.86[AMR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42639400-42644800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:42641800-42645200	Enhancers	Dnd41	blood
3	chr8:42642200-42651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:42642800-42644800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:42642800-42645000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr8:42642800-42645200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:42642800-42645200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:42642800-42645200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:42642800-42645200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:42642800-42645400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr8:42643000-42645200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:42643000-42645400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:42643000-42647600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:42643200-42645200	Enhancers	Primary T cells from cord blood	blood
15	chr8:42643600-42645200	Enhancers	Primary B cells from cord blood	blood
16	chr8:42643600-42645200	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:42643600-42645400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:42644000-42645200	Enhancers	Thymus	Thymus
19	chr8:42644000-42645400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:42644000-42645600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:42644200-42644800	Enhancers	GM12878-XiMat	blood
22	chr8:42644200-42645200	Weak transcription	A549	lung
23	chr8:42644200-42646800	Enhancers	Fetal Thymus	thymus
24	chr8:42644400-42644800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:42644400-42646000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:42644600-42645000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:42644600-42645000	Flanking Active TSS	K562	blood
28	chr8:42644600-42645600	Enhancers	Fetal Intestine Large	intestine
29	chr8:42644600-42645800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:42644600-42645800	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:42644600-42645800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:42644600-42645800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:42644600-42645800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr8:42644600-42646200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:42644600-42646400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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