Variant report

Variant	rs17051315
Chromosome Location	chr4:122110986-122110987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10030846	1.00[EUR][1000 genomes]
rs17051303	1.00[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051304	1.00[ASW][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051306	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17051309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051311	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051312	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28380115	1.00[EUR][1000 genomes]
rs28465139	1.00[EUR][1000 genomes]
rs28562240	1.00[EUR][1000 genomes]
rs6837539	1.00[EUR][1000 genomes]
rs72668912	1.00[EUR][1000 genomes]
rs73847413	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv879860	chr4:122030864-122126808	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122104800-122111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:122107200-122111000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr4:122107800-122113400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:122108800-122114000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:122109600-122113400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:122109600-122113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:122109800-122111400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:122110000-122111200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:122110000-122112200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:122110000-122112200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:122110200-122111200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:122110200-122111400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:122110200-122111400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:122110200-122111800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:122110200-122112000	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr4:122110200-122112200	Enhancers	Fetal Thymus	thymus
17	chr4:122110400-122111400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:122110600-122111200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr4:122110600-122111200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr4:122110600-122111200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr4:122110600-122111600	Weak transcription	Thymus	Thymus
22	chr4:122110600-122111800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:122110600-122111800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr4:122110600-122111800	Flanking Active TSS	Dnd41	blood
25	chr4:122110800-122111200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:122110800-122111200	Flanking Active TSS	GM12878-XiMat	blood
27	chr4:122110800-122111400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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