Variant report

Variant	rs6486365
Chromosome Location	chr11:17395202-17395203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17392803..17397590-chr11:17399104..17403536,6	K562	blood:
2	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:
3	chr11:17387455..17389488-chr11:17394125..17397016,2	K562	blood:
4	chr11:17389738..17391541-chr11:17394315..17396637,3	K562	blood:
5	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:

Variant related genes	Relation type
ENSG00000260196	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11827039	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828705	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292288	1.00[ASN][1000 genomes]
rs12293803	1.00[ASN][1000 genomes]
rs12422139	1.00[ASN][1000 genomes]
rs17846719	1.00[ASN][1000 genomes]
rs17846760	1.00[ASN][1000 genomes]
rs17846764	1.00[ASN][1000 genomes]
rs17846770	1.00[ASN][1000 genomes]
rs2214285	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55898520	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003324	1.00[ASN][1000 genomes]
rs56261601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56731620	1.00[ASN][1000 genomes]
rs6486364	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865007	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865016	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865031	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865036	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865050	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865058	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72866820	1.00[ASN][1000 genomes]
rs757111	1.00[ASN][1000 genomes]
rs7927686	1.00[ASN][1000 genomes]
rs7937774	1.00[ASN][1000 genomes]
rs8192691	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17387200-17398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:17388200-17395800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:17388200-17396800	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr11:17388600-17396000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr11:17388600-17396800	ZNF genes & repeats	Dnd41	blood
7	chr11:17388800-17395600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
8	chr11:17388800-17395800	ZNF genes & repeats	HSMM	muscle
9	chr11:17388800-17395800	ZNF genes & repeats	NHEK	skin
10	chr11:17388800-17396000	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:17389000-17395800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
13	chr11:17389600-17395400	ZNF genes & repeats	HSMMtube	muscle
14	chr11:17389600-17395800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr11:17389600-17396000	ZNF genes & repeats	Fetal Brain Female	brain
16	chr11:17389800-17395600	ZNF genes & repeats	Aorta	Aorta
17	chr11:17389800-17395800	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr11:17389800-17397000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:17390000-17395800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr11:17390000-17395800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr11:17390000-17395800	ZNF genes & repeats	Left Ventricle	heart
22	chr11:17390000-17397400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr11:17390200-17395600	ZNF genes & repeats	Small Intestine	intestine
24	chr11:17390200-17395800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:17390400-17396200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr11:17390400-17396600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:17390600-17395800	ZNF genes & repeats	Liver	Liver
28	chr11:17391400-17395400	ZNF genes & repeats	Hela-S3	cervix
29	chr11:17393200-17395800	ZNF genes & repeats	Lung	lung
30	chr11:17393400-17395600	ZNF genes & repeats	Fetal Stomach	stomach
31	chr11:17393400-17395600	ZNF genes & repeats	Pancreas	Pancrea
32	chr11:17394000-17396400	Weak transcription	Psoas Muscle	Psoas
33	chr11:17394200-17395800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:17394200-17401600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:17394200-17401800	Strong transcription	HepG2	liver
36	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:17394400-17397200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:17394400-17400800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
40	chr11:17394400-17403600	Weak transcription	NHLF	lung
41	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
42	chr11:17394400-17410200	Weak transcription	A549	lung
43	chr11:17394600-17398000	Weak transcription	Primary T cells from cord blood	blood
44	chr11:17394600-17400000	Strong transcription	Fetal Intestine Large	intestine
45	chr11:17394600-17401600	Strong transcription	K562	blood
46	chr11:17394800-17395800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr11:17394800-17400000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:17394800-17400200	Weak transcription	Brain Hippocampus Middle	brain
49	chr11:17395000-17395600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:17395000-17396400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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