Variant report

Variant	rs11040879
Chromosome Location	chr11:6399252-6399253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:6398714..6402788-chr11:6492263..6496580,6	K562	blood:
2	chr11:6391164..6393393-chr11:6398964..6400664,2	K562	blood:
3	chr11:6389874..6394705-chr11:6397417..6400664,4	K562	blood:
4	chr11:6398714..6402192-chr11:6493478..6496580,5	K562	blood:
5	chr11:6385351..6387854-chr11:6397107..6400224,3	K562	blood:
6	chr11:6398298..6400014-chr11:6501393..6502910,2	K562	blood:
7	chr11:6398312..6400551-chr11:6465206..6467299,2	K562	blood:

Variant related genes	Relation type
ENSG00000132286	Chromatin interaction
ENSG00000110171	Chromatin interaction
ENSG00000132254	Chromatin interaction
ENSG00000265264	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11040880	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11040883	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603081	1.00[ASN][1000 genomes]
rs11604636	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417813	1.00[ASN][1000 genomes]
rs34995289	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758097	1.00[ASN][1000 genomes]
rs4758415	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896245	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896248	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896249	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896262	1.00[ASN][1000 genomes]
rs7931364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934983	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935228	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935950	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937560	1.00[ASN][1000 genomes]
rs7940008	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950901	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6384600-6399800	Weak transcription	Right Atrium	heart
2	chr11:6393400-6401400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:6393400-6401600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:6393400-6401800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:6397400-6401200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:6397400-6401600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:6397400-6401800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:6397800-6401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:6398800-6399400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr11:6399000-6399400	Enhancers	Primary B cells from cord blood	blood
11	chr11:6399000-6399400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr11:6399000-6399600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:6399000-6400200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:6399000-6400400	Enhancers	Fetal Thymus	thymus
15	chr11:6399000-6400400	Flanking Active TSS	HUVEC	blood vessel
16	chr11:6399000-6400600	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:6399000-6400600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:6399000-6400600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:6399000-6400600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:6399000-6401200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:6399000-6402000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr11:6399200-6399600	Enhancers	Adipose Nuclei	Adipose
23	chr11:6399200-6399800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr11:6399200-6399800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:6399200-6400000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:6399200-6400000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr11:6399200-6400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:6399200-6400000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:6399200-6400000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:6399200-6400000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:6399200-6400000	Enhancers	GM12878-XiMat	blood
32	chr11:6399200-6400400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:6399200-6400400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:6399200-6400600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr11:6399200-6400600	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:6399200-6400600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:6399200-6400600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:6399200-6400600	Enhancers	Thymus	Thymus

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