Variant report

Variant	rs60250801
Chromosome Location	chr11:85852292-85852293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85851774..85853885-chr11:85954926..85956785,2	K562	blood:
2	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
3	chr11:85843188..85847457-chr11:85851977..85855853,7	K562	blood:
4	chr11:85818918..85820717-chr11:85851486..85854070,2	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

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

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

rs_ID	r²[population]
rs11820073	1.00[AMR][1000 genomes]
rs11820972	1.00[AMR][1000 genomes]
rs11824464	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826206	1.00[AMR][1000 genomes]
rs11827284	0.93[AFR][1000 genomes]
rs11827521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828355	1.00[AMR][1000 genomes]
rs11828809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873745	1.00[AMR][1000 genomes]
rs55918324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56012164	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57062119	1.00[AMR][1000 genomes]
rs57331509	0.93[AFR][1000 genomes]
rs58070075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60953189	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61284324	1.00[AMR][1000 genomes]
rs61676661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121487	1.00[AMR][1000 genomes]
rs7123605	1.00[AMR][1000 genomes]
rs7129827	0.93[AFR][1000 genomes]
rs7948653	1.00[AMR][1000 genomes]
rs7948822	1.00[AMR][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	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85845200-85858600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:85845800-85859800	Weak transcription	Aorta	Aorta
3	chr11:85846400-85862200	Weak transcription	Psoas Muscle	Psoas
4	chr11:85847400-85855600	Weak transcription	Stomach Mucosa	stomach
5	chr11:85848000-85852600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:85848000-85861200	Weak transcription	Small Intestine	intestine
7	chr11:85848000-85861600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:85848200-85854400	Weak transcription	Fetal Intestine Large	intestine
9	chr11:85849000-85858600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:85849200-85856000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:85849200-85857200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:85849400-85852400	Enhancers	Placenta	Placenta
13	chr11:85849400-85852600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:85849400-85853800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr11:85849400-85854400	Enhancers	Primary B cells from cord blood	blood
16	chr11:85849400-85856200	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:85849600-85853200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:85849800-85852400	Enhancers	Fetal Thymus	thymus
19	chr11:85849800-85854800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:85850400-85854400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:85850400-85862600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:85850600-85852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:85850600-85852400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:85850600-85852400	Weak transcription	Osteobl	bone
25	chr11:85850600-85854600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:85850600-85854600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:85850600-85856800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:85850800-85854600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:85851000-85852400	Weak transcription	GM12878-XiMat	blood
30	chr11:85851200-85854000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:85851200-85854200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:85851200-85854200	Enhancers	K562	blood
33	chr11:85851400-85852400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:85851400-85852600	Enhancers	Brain Angular Gyrus	brain
35	chr11:85851400-85852600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:85851400-85853400	Enhancers	Brain Hippocampus Middle	brain
37	chr11:85851600-85852800	Enhancers	Right Atrium	heart
38	chr11:85851800-85853000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:85851800-85854000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:85852000-85852400	Weak transcription	Adipose Nuclei	Adipose
41	chr11:85852000-85852400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:85852000-85852600	Enhancers	Liver	Liver
43	chr11:85852000-85853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:85852000-85854200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:85852200-85853400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:85852200-85854800	Weak transcription	Brain Substantia Nigra	brain
47	chr11:85852200-85855600	Weak transcription	Brain Cingulate Gyrus	brain

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