Variant report

Variant	rs6486423
Chromosome Location	chr11:18415057-18415058
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18414624..18416918-chr7:148786242..148788890,2	MCF-7	breast:
2	chr11:18340646..18350403-chr11:18414573..18418572,22	K562	blood:
3	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
4	chr11:18365375..18369096-chr11:18414733..18417585,5	MCF-7	breast:
5	chr11:18414231..18417142-chr11:18548434..18550099,2	K562	blood:
6	chr11:18340586..18347042-chr11:18413380..18419628,16	K562	blood:
7	chr11:18414619..18417567-chr11:18475840..18478644,2	K562	blood:
8	chr11:18414611..18420404-chr11:18425224..18433817,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197362	Chromatin interaction
ENSG00000166800	Chromatin interaction
ENSG00000256006	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000110768	Chromatin interaction
ENSG00000110756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10766473	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10766476	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832926	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11024636	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1830425	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2403278	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403280	0.82[AMR][1000 genomes]
rs3758681	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3758683	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6486422	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6486424	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7101840	0.81[ASN][1000 genomes]
rs7129689	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925445	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7938267	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7943847	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7946331	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18405800-18415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:18406400-18415200	Weak transcription	HSMM	muscle
3	chr11:18406400-18415400	Weak transcription	Right Ventricle	heart
4	chr11:18406600-18415200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:18406600-18415400	Weak transcription	Thymus	Thymus
6	chr11:18407000-18415400	Weak transcription	Fetal Intestine Large	intestine
7	chr11:18407200-18415400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:18407200-18415400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:18407200-18415400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:18407200-18415400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:18407200-18416000	Weak transcription	Gastric	stomach
12	chr11:18407800-18415400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:18408800-18415400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:18412800-18415400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:18412800-18415800	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:18413000-18415200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:18413000-18415200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:18413000-18415400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:18413000-18415400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:18413000-18415400	Enhancers	HMEC	breast
21	chr11:18413000-18415400	Enhancers	NHDF-Ad	bronchial
22	chr11:18413000-18415600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:18413000-18415600	Enhancers	NHEK	skin
24	chr11:18413000-18415800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:18413000-18415800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:18413200-18415200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:18413200-18415200	Enhancers	Hela-S3	cervix
28	chr11:18413400-18415400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:18413400-18415400	Enhancers	K562	blood
30	chr11:18413400-18415400	Enhancers	Osteobl	bone
31	chr11:18413400-18415600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:18413400-18415600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:18413400-18415600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:18413400-18416000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:18413600-18415400	Enhancers	Primary T cells from cord blood	blood
36	chr11:18413600-18415400	Enhancers	HepG2	liver
37	chr11:18413800-18415200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:18413800-18415200	Weak transcription	NHLF	lung
39	chr11:18413800-18415400	Enhancers	GM12878-XiMat	blood
40	chr11:18413800-18415600	Enhancers	Fetal Thymus	thymus
41	chr11:18414000-18415400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:18414000-18415400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:18414000-18415400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:18414000-18415400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:18414000-18415400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:18414000-18415400	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:18414000-18415600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:18414000-18415600	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:18414000-18415600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr11:18414000-18415600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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