Variant report

Variant	rs60059131
Chromosome Location	chr11:93519525-93519526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
2	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:
3	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
4	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
5	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:

Variant related genes	Relation type
ENSG00000206834	Chromatin interaction
ENSG00000206799	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16919267	1.00[AMR][1000 genomes]
rs2298706	1.00[AMR][1000 genomes]
rs34380494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3737461	1.00[AMR][1000 genomes]
rs55734478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55841047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57824239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58142073	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58451343	1.00[AMR][1000 genomes]
rs59010425	1.00[AMR][1000 genomes]
rs60264207	1.00[AMR][1000 genomes]
rs61276777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61498518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121098	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129028	1.00[AMR][1000 genomes]
rs7129313	1.00[AMR][1000 genomes]
rs7937088	1.00[AMR][1000 genomes]
rs7951514	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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93516600-93519600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:93516600-93519600	Active TSS	A549	lung
3	chr11:93516800-93519600	Active TSS	Right Atrium	heart
4	chr11:93516800-93519800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:93516800-93520400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:93517600-93520800	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr11:93517800-93520400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr11:93518000-93520200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:93518200-93519600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:93518200-93519600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr11:93518200-93520000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:93518200-93520000	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr11:93518200-93520400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:93518400-93519600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr11:93518400-93519800	Active TSS	HepG2	liver
16	chr11:93518400-93520200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr11:93518600-93519600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:93518600-93519600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:93518600-93519600	Flanking Active TSS	Fetal Brain Male	brain
20	chr11:93518600-93519600	Flanking Active TSS	Fetal Kidney	kidney
21	chr11:93518600-93520000	Enhancers	Placenta	Placenta
22	chr11:93518600-93520200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:93518600-93520200	Flanking Active TSS	HUVEC	blood vessel
24	chr11:93518600-93520400	Enhancers	Pancreas	Pancrea
25	chr11:93518600-93520400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:93518600-93520600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:93518600-93520800	Enhancers	Small Intestine	intestine
28	chr11:93518600-93527800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:93518800-93519600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:93518800-93519600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr11:93518800-93519800	Flanking Active TSS	NH-A	brain
32	chr11:93518800-93520000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:93518800-93520000	Flanking Active TSS	NHEK	skin
34	chr11:93518800-93520200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:93518800-93520200	Flanking Active TSS	Fetal Brain Female	brain
36	chr11:93518800-93520400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:93518800-93520800	Transcr. at gene 5' and 3'	Hela-S3	cervix
38	chr11:93518800-93521400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:93519000-93519600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:93519000-93519800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:93519000-93520000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:93519000-93520000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr11:93519000-93520000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:93519000-93520200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:93519000-93520200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
46	chr11:93519000-93520200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
47	chr11:93519000-93520200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr11:93519000-93520200	Enhancers	Brain Substantia Nigra	brain
49	chr11:93519000-93520400	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:93519000-93520400	Enhancers	Adipose Nuclei	Adipose

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