Variant report

Variant	rs2219395
Chromosome Location	chr1:92012939-92012940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92011701..92014706-chr1:92015449..92018915,4	K562	blood:
2	chr1:92000817..92005015-chr1:92009714..92013588,4	K562	blood:

Variant related genes	Relation type
ENSG00000241318	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1506786	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17879470	1.00[AMR][1000 genomes]
rs34011609	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471904	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516593	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs517460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519523	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs529778	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs582636	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs590931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs594834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59894382	1.00[AMR][1000 genomes]
rs6661449	1.00[AMR][1000 genomes]
rs72952916	1.00[AMR][1000 genomes]
rs72970312	1.00[AMR][1000 genomes]
rs72970317	1.00[AMR][1000 genomes]
rs72970324	1.00[AMR][1000 genomes]
rs72970332	1.00[AMR][1000 genomes]
rs72970344	1.00[AMR][1000 genomes]
rs72970362	1.00[AMR][1000 genomes]
rs72970365	1.00[AMR][1000 genomes]
rs72970366	1.00[AMR][1000 genomes]
rs72970375	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92003000-92013800	Weak transcription	Spleen	Spleen
2	chr1:92003600-92018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:92006600-92016400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:92008000-92013000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:92009000-92013600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:92010600-92015400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:92010600-92017000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:92010800-92014400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:92011200-92013600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:92011400-92018200	Weak transcription	Right Atrium	heart
11	chr1:92011800-92014200	Weak transcription	Fetal Lung	lung
12	chr1:92012000-92013600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:92012000-92027400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:92012400-92013600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:92012400-92014400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:92012400-92014800	Enhancers	Fetal Heart	heart
17	chr1:92012600-92013400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:92012600-92013600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:92012600-92013800	Enhancers	Primary T cells from cord blood	blood
20	chr1:92012600-92013800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:92012800-92014200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:92012800-92018800	Weak transcription	Placenta	Placenta

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