Variant report

Variant	rs2864071
Chromosome Location	chr11:46426780-46426781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46382466..46385279-chr11:46425815..46428060,2	K562	blood:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10734546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038924	0.85[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12099188	0.80[AFR][1000 genomes]
rs1466634	1.00[YRI][hapmap]
rs1489189	1.00[YRI][hapmap]
rs1489190	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489193	1.00[YRI][hapmap]
rs1812657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1873129	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029378	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087360	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864836	1.00[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs34217002	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34444424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35935319	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367921	1.00[AMR][1000 genomes]
rs4376875	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4433539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4508179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550197	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs57923752	0.80[AFR][1000 genomes]
rs58314136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58770070	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60026983	0.80[AFR][1000 genomes]
rs60147143	0.80[AFR][1000 genomes]
rs60162610	1.00[AMR][1000 genomes]
rs61451984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61514976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61693609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485681	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449906	0.80[AFR][1000 genomes]
rs73449908	0.80[AFR][1000 genomes]
rs73449917	0.80[AFR][1000 genomes]
rs73449920	0.80[AFR][1000 genomes]
rs73449937	0.80[AFR][1000 genomes]
rs73449939	0.80[AFR][1000 genomes]
rs73449943	0.80[AFR][1000 genomes]
rs73449951	0.80[AFR][1000 genomes]
rs73449956	0.80[AFR][1000 genomes]
rs73449974	0.80[AFR][1000 genomes]
rs73449985	0.80[AFR][1000 genomes]
rs73450002	0.80[AFR][1000 genomes]
rs73451811	0.80[AFR][1000 genomes]
rs73451819	0.80[AFR][1000 genomes]
rs73451822	0.80[AFR][1000 genomes]
rs73451825	0.80[AFR][1000 genomes]
rs73451848	0.80[AFR][1000 genomes]
rs73451858	0.80[AFR][1000 genomes]
rs73451860	0.80[AFR][1000 genomes]
rs73451863	0.80[AFR][1000 genomes]
rs73451880	0.80[AFR][1000 genomes]
rs73451885	0.80[AFR][1000 genomes]
rs73451898	0.80[AFR][1000 genomes]
rs73464080	1.00[AMR][1000 genomes]
rs73466031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467917	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467919	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467936	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467944	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467947	0.80[AFR][1000 genomes]
rs73467950	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467963	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467964	0.80[AFR][1000 genomes]
rs73467966	0.80[AFR][1000 genomes]
rs7924437	0.91[AFR][1000 genomes]
rs7924695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7928869	1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942788	1.00[YRI][hapmap]
rs967754	1.00[YRI][hapmap];1.00[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	chr11:46414800-46428600	Weak transcription	A549	lung
5	chr11:46414800-46429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:46414800-46436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:46415000-46428800	Weak transcription	Stomach Mucosa	stomach
8	chr11:46415000-46429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:46415000-46429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:46415000-46432800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:46415200-46426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:46415200-46430600	Weak transcription	K562	blood
13	chr11:46416200-46429000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:46416200-46429800	Weak transcription	HUVEC	blood vessel
15	chr11:46416400-46428400	Weak transcription	Small Intestine	intestine
16	chr11:46416400-46429200	Weak transcription	NHDF-Ad	bronchial
17	chr11:46417000-46435800	Strong transcription	Fetal Intestine Small	intestine
18	chr11:46417000-46444400	Strong transcription	Fetal Stomach	stomach
19	chr11:46417200-46439600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:46417400-46427200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:46417400-46432200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:46417400-46432600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:46417600-46427600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:46417800-46463400	Weak transcription	Fetal Brain Male	brain
25	chr11:46419200-46431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:46419400-46428800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:46419600-46429200	Weak transcription	NHLF	lung
28	chr11:46419800-46429200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:46419800-46429200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:46420000-46429000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:46420000-46429000	Weak transcription	GM12878-XiMat	blood
32	chr11:46421000-46427400	Strong transcription	Dnd41	blood
33	chr11:46421000-46427600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:46421000-46427800	Strong transcription	Primary T cells from cord blood	blood
35	chr11:46421000-46432200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:46421000-46432400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr11:46421000-46432400	Strong transcription	Thymus	Thymus
38	chr11:46421000-46432800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:46421000-46433000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:46421000-46444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:46421000-46447000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:46421200-46426800	Strong transcription	Aorta	Aorta
43	chr11:46421200-46427200	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:46421200-46427400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:46421200-46431400	Strong transcription	Fetal Thymus	thymus
46	chr11:46421200-46432400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:46421400-46427200	Strong transcription	HepG2	liver
48	chr11:46421400-46432400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:46421400-46434000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:46421400-46435600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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