Variant report

Variant	rs16867402
Chromosome Location	chr2:182169728-182169729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16867400	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867401	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867405	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867406	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867413	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17270875	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55812282	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182165400-182169800	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:182166000-182170200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:182166200-182170200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:182167800-182170200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:182168400-182171400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:182168400-182174000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:182168600-182169800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:182168600-182170400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:182168600-182170400	Enhancers	Fetal Thymus	thymus
10	chr2:182168600-182171400	Flanking Active TSS	GM12878-XiMat	blood
11	chr2:182168600-182174000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:182168600-182174200	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:182168600-182176800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:182168800-182170600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:182168800-182171200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:182168800-182172200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:182168800-182172400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:182168800-182174200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:182169000-182170200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:182169000-182171800	Enhancers	HepG2	liver
21	chr2:182169000-182172200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:182169000-182172200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr2:182169200-182169800	Active TSS	Thymus	Thymus
24	chr2:182169200-182170200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:182169200-182170400	Weak transcription	Lung	lung
26	chr2:182169400-182169800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:182169400-182170000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:182169400-182170000	Enhancers	Dnd41	blood
29	chr2:182169400-182170400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:182169400-182170400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:182169400-182170400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:182169400-182170400	Weak transcription	Adipose Nuclei	Adipose
33	chr2:182169400-182170800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:182169600-182170000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:182169600-182170200	Enhancers	Primary B cells from cord blood	blood
36	chr2:182169600-182170200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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