Variant report

Variant	rs17023813
Chromosome Location	chr2:100851847-100851848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166685	1.00[AMR][1000 genomes]
rs10195002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197691	1.00[AMR][1000 genomes]
rs11885543	1.00[AMR][1000 genomes]
rs12328904	1.00[AMR][1000 genomes]
rs13392606	1.00[AMR][1000 genomes]
rs13397862	1.00[AMR][1000 genomes]
rs13399298	1.00[AMR][1000 genomes]
rs13399343	1.00[AMR][1000 genomes]
rs13400243	1.00[AMR][1000 genomes]
rs13400704	1.00[AMR][1000 genomes]
rs13416518	1.00[AMR][1000 genomes]
rs13427006	1.00[AMR][1000 genomes]
rs13429281	1.00[AMR][1000 genomes]
rs17023784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023822	1.00[AMR][1000 genomes]
rs17023879	1.00[AMR][1000 genomes]
rs28529291	1.00[AMR][1000 genomes]
rs57419659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707671	1.00[AMR][1000 genomes]
rs6708691	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583182	1.00[AMR][1000 genomes]
rs7586717	1.00[AMR][1000 genomes]
rs7601715	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100849400-100856000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:100850000-100853400	Weak transcription	Fetal Heart	heart
3	chr2:100850600-100852000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:100850600-100852000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:100850600-100852000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:100850600-100852200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:100850800-100853800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:100851000-100852200	Enhancers	NH-A	brain
9	chr2:100851000-100852600	Enhancers	GM12878-XiMat	blood
10	chr2:100851000-100853200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:100851000-100853200	Weak transcription	Fetal Lung	lung
12	chr2:100851000-100854600	Enhancers	Fetal Thymus	thymus
13	chr2:100851000-100855400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:100851200-100852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:100851200-100852600	Enhancers	Dnd41	blood
16	chr2:100851200-100852800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:100851200-100853000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:100851200-100853400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:100851200-100853800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:100851200-100854800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:100851200-100855200	Enhancers	Thymus	Thymus
22	chr2:100851400-100852000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:100851400-100852400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr2:100851400-100852400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:100851400-100852400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:100851400-100852400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:100851400-100852600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:100851400-100853000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr2:100851400-100853000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr2:100851400-100853200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:100851400-100854000	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:100851600-100852000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:100851600-100852000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:100851600-100852000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr2:100851600-100852000	Enhancers	Lung	lung
36	chr2:100851600-100852200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:100851600-100852400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:100851600-100852400	Enhancers	Spleen	Spleen
39	chr2:100851600-100853000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:100851600-100854600	Enhancers	Primary T cells from cord blood	blood
41	chr2:100851600-100855200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:100851800-100852000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:100851800-100852000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:100851800-100852600	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr2:100851800-100853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:100851800-100854000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:100851800-100854800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:100851800-100855800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:100851800-100859200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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