Variant report

Variant	rs540943
Chromosome Location	chr11:65910129-65910130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65901646..65904631-chr11:65908270..65911227,4	MCF-7	breast:
2	chr11:65904866..65907963-chr11:65908725..65912657,6	MCF-7	breast:
3	chr11:65906596..65908617-chr11:65908923..65911707,2	K562	blood:
4	chr11:65777780..65780340-chr11:65909339..65912310,2	K562	blood:
5	chr11:65827364..65830202-chr11:65909071..65911937,2	MCF-7	breast:
6	chr11:65781033..65783841-chr11:65908931..65911172,2	MCF-7	breast:
7	chr11:65908482..65910838-chr11:65913750..65916092,2	MCF-7	breast:
8	chr11:65909178..65910737-chr11:65912295..65914577,2	MCF-7	breast:
9	chr11:65835157..65840095-chr11:65905234..65913819,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1211863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2452683	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471709	1.00[JPT][hapmap]
rs4930174	1.00[EUR][1000 genomes]
rs4930341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57287207	1.00[ASN][1000 genomes]
rs57720880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583648	1.00[EUR][1000 genomes]
rs59807152	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59827057	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60095752	1.00[ASN][1000 genomes]
rs60415795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591206	1.00[ASN][1000 genomes]
rs7103495	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932629	1.00[ASN][1000 genomes]
rs72932698	1.00[ASN][1000 genomes]
rs72934614	1.00[EUR][1000 genomes]
rs72934624	1.00[EUR][1000 genomes]
rs72934632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934642	1.00[EUR][1000 genomes]
rs72934655	1.00[EUR][1000 genomes]
rs72934666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934677	1.00[EUR][1000 genomes]
rs72936625	0.96[EUR][1000 genomes]
rs7950327	0.93[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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65894800-65912200	Weak transcription	Thymus	Thymus
2	chr11:65895000-65913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65895000-65917600	Weak transcription	HSMM	muscle
4	chr11:65895200-65912200	Weak transcription	Lung	lung
5	chr11:65895200-65913000	Weak transcription	Psoas Muscle	Psoas
6	chr11:65895400-65910200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:65896600-65912800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:65898400-65913000	Weak transcription	Spleen	Spleen
9	chr11:65901000-65919400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:65901200-65910800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:65902000-65912800	Weak transcription	Right Atrium	heart
12	chr11:65902200-65910400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:65905200-65910400	Weak transcription	Fetal Heart	heart
14	chr11:65905200-65913000	Weak transcription	Aorta	Aorta
15	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
16	chr11:65905400-65910200	Weak transcription	NHDF-Ad	bronchial
17	chr11:65905400-65910200	Weak transcription	NHLF	lung
18	chr11:65905400-65911000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr11:65905600-65910400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:65905600-65912600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:65905800-65910600	Weak transcription	Small Intestine	intestine
23	chr11:65905800-65924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
25	chr11:65906000-65912800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:65907800-65910800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:65907800-65912000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:65907800-65912200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:65907800-65912200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:65908000-65910200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:65908000-65910200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr11:65908000-65910400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:65908000-65911800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:65908800-65910400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:65909000-65910200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:65909000-65910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:65909000-65911800	Enhancers	K562	blood
39	chr11:65909000-65913400	Enhancers	Stomach Mucosa	stomach
40	chr11:65909200-65910600	Enhancers	Osteobl	bone
41	chr11:65909200-65911000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65909200-65911800	Enhancers	GM12878-XiMat	blood
43	chr11:65909400-65910400	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:65909400-65911000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:65909400-65911000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:65909400-65911400	Enhancers	Pancreas	Pancrea
47	chr11:65909600-65910400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:65909600-65910600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:65909600-65910800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:65909600-65911000	Enhancers	Muscle Satellite Cultured Cells	--

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