Variant report

Variant	rs7928869
Chromosome Location	chr11:46428842-46428843
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10734546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038924	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap]
rs1466634	1.00[YRI][hapmap]
rs1489189	1.00[YRI][hapmap]
rs1489190	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1489193	1.00[YRI][hapmap]
rs1812657	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1873129	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029378	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046766	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087360	1.00[ASW][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087361	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864071	1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864836	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs34217002	1.00[AMR][1000 genomes]
rs34444424	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35935319	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367921	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs4376875	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4433539	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4508179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550197	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs58314136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58770070	1.00[AMR][1000 genomes]
rs60162610	1.00[AMR][1000 genomes]
rs61451984	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514976	1.00[AMR][1000 genomes]
rs61693609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485681	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7124331	0.93[MKK][hapmap]
rs73464080	1.00[AMR][1000 genomes]
rs73466031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466094	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467917	1.00[AMR][1000 genomes]
rs73467919	1.00[AMR][1000 genomes]
rs73467920	1.00[AMR][1000 genomes]
rs73467936	1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	1.00[AMR][1000 genomes]
rs73467944	1.00[AMR][1000 genomes]
rs73467950	1.00[AMR][1000 genomes]
rs73467963	1.00[AMR][1000 genomes]
rs7924437	0.82[AFR][1000 genomes]
rs7924695	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942788	1.00[YRI][hapmap]
rs901995	1.00[ASW][hapmap]
rs901999	1.00[ASW][hapmap]
rs967754	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46414200-46429000	Weak transcription	Hela-S3	cervix
2	chr11:46414200-46432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:46414600-46429200	Weak transcription	HMEC	breast
4	chr11:46414800-46429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:46414800-46436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:46415000-46429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:46415000-46429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:46415000-46432800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:46415200-46430600	Weak transcription	K562	blood
10	chr11:46416200-46429000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:46416200-46429800	Weak transcription	HUVEC	blood vessel
12	chr11:46416400-46429200	Weak transcription	NHDF-Ad	bronchial
13	chr11:46417000-46435800	Strong transcription	Fetal Intestine Small	intestine
14	chr11:46417000-46444400	Strong transcription	Fetal Stomach	stomach
15	chr11:46417200-46439600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:46417400-46432200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:46417400-46432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
19	chr11:46419200-46431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:46419600-46429200	Weak transcription	NHLF	lung
21	chr11:46419800-46429200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:46419800-46429200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:46420000-46429000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:46420000-46429000	Weak transcription	GM12878-XiMat	blood
25	chr11:46421000-46432200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:46421000-46432400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr11:46421000-46432400	Strong transcription	Thymus	Thymus
28	chr11:46421000-46432800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:46421000-46433000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:46421000-46444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:46421000-46447000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:46421200-46431400	Strong transcription	Fetal Thymus	thymus
33	chr11:46421200-46432400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:46421400-46432400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:46421400-46434000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:46421400-46435600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:46423000-46436000	Strong transcription	Fetal Intestine Large	intestine
38	chr11:46423200-46429000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:46423200-46429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:46423400-46439600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:46423400-46444600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:46423600-46432000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:46424000-46432200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:46424200-46430600	Strong transcription	Brain Germinal Matrix	brain
45	chr11:46424400-46432400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:46424400-46434200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:46424600-46432200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:46424600-46433000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:46425200-46430000	Strong transcription	Spleen	Spleen
50	chr11:46425200-46430200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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