Variant report

Variant	rs60883299
Chromosome Location	chr11:58919094-58919095
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58918429..58921129-chr11:58923542..58925704,2	K562	blood:
2	chr11:58912133..58915132-chr11:58919063..58920634,2	K562	blood:
3	chr11:58911468..58913916-chr11:58919063..58921511,3	K562	blood:

Variant related genes	Relation type
ENSG00000166801	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048374	1.00[EUR][1000 genomes]
rs11229810	1.00[EUR][1000 genomes]
rs11229821	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229825	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229829	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229831	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229832	1.00[EUR][1000 genomes]
rs11229835	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229836	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229838	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229841	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229843	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11229844	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229853	1.00[ASN][1000 genomes]
rs11229858	0.91[ASN][1000 genomes]
rs11229862	0.81[ASN][1000 genomes]
rs12221768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12222675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12223473	1.00[EUR][1000 genomes]
rs12225532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17153381	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2154626	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2154627	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2154964	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2154965	1.00[EUR][1000 genomes]
rs35732637	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55742277	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56349021	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57969871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58277547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60519524	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60795438	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58912800-58919400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:58912800-58919400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:58912800-58921400	Weak transcription	Esophagus	oesophagus
4	chr11:58912800-58924000	Weak transcription	Gastric	stomach
5	chr11:58912800-58924200	Weak transcription	Aorta	Aorta
6	chr11:58912800-58925800	Weak transcription	Ovary	ovary
7	chr11:58913000-58919200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:58913000-58919400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:58913000-58919400	Weak transcription	Colonic Mucosa	Colon
10	chr11:58913000-58922000	Weak transcription	Psoas Muscle	Psoas
11	chr11:58913000-58922600	Weak transcription	Small Intestine	intestine
12	chr11:58913000-58924600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:58913000-58925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:58913200-58919200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:58913200-58919200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:58913200-58921200	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:58913200-58922200	Weak transcription	Fetal Stomach	stomach
18	chr11:58913200-58924400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:58913200-58925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:58913200-58925600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:58913200-58925800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:58913200-58925800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:58913200-58925800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:58913400-58919200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:58913400-58919400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:58913400-58919600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:58913400-58920400	Weak transcription	NH-A	brain
28	chr11:58913400-58922000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:58913400-58922200	Weak transcription	K562	blood
30	chr11:58913600-58922600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:58913800-58919200	Weak transcription	Adipose Nuclei	Adipose
32	chr11:58913800-58922000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:58913800-58923800	Weak transcription	Lung	lung
34	chr11:58913800-58925800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:58914000-58919600	Weak transcription	NHEK	skin
36	chr11:58914000-58925800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:58914200-58921000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:58914400-58919800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:58914800-58919400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr11:58914800-58919400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:58914800-58921800	Strong transcription	Fetal Thymus	thymus
42	chr11:58914800-58922400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:58914800-58922800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:58914800-58925800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:58915000-58920200	Strong transcription	Fetal Lung	lung
46	chr11:58915400-58919600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:58915400-58921000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:58915600-58922200	Weak transcription	Fetal Intestine Small	intestine
49	chr11:58915800-58919400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:58915800-58921000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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