Variant report

Variant	rs28391644
Chromosome Location	chr2:231467673-231467674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10169664	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194745	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10205403	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206019	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10933348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12165161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13382731	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13383722	0.91[AMR][1000 genomes]
rs13400872	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415245	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415639	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423464	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426361	1.00[AMR][1000 genomes]
rs13426456	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28687783	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56936934	0.83[AMR][1000 genomes]
rs57487135	0.83[AMR][1000 genomes]
rs58644355	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60864433	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6745953	1.00[AMR][1000 genomes]
rs6746215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6746391	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6761068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73992469	0.83[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231462400-231469400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:231462600-231468800	Enhancers	Primary B cells from cord blood	blood
3	chr2:231465200-231469200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:231465200-231469600	Enhancers	Fetal Thymus	thymus
5	chr2:231466000-231469600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:231467000-231467800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:231467000-231468000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:231467000-231468000	Flanking Active TSS	Dnd41	blood
9	chr2:231467000-231468200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:231467200-231467800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:231467200-231467800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:231467200-231467800	Enhancers	HUVEC	blood vessel
13	chr2:231467200-231468000	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:231467200-231468000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:231467200-231468200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:231467400-231468000	Enhancers	Left Ventricle	heart
17	chr2:231467600-231467800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr2:231467600-231467800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:231467600-231467800	Enhancers	Colonic Mucosa	Colon
20	chr2:231467600-231467800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr2:231467600-231468000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:231467600-231468000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr2:231467600-231468000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:231467600-231468000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:231467600-231468000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:231467600-231468000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr2:231467600-231468000	Enhancers	Adipose Nuclei	Adipose
28	chr2:231467600-231468000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr2:231467600-231468000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr2:231467600-231468000	Flanking Active TSS	Thymus	Thymus
31	chr2:231467600-231468200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:231467600-231468200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr2:231467600-231468200	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:231467600-231468400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:231467600-231468600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr2:231467600-231468800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:231467600-231468800	Enhancers	Spleen	Spleen

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