Variant report

Variant	rs60056981
Chromosome Location	chr11:102326788-102326789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:102326589-102326977	GM12891	blood:	n/a	n/a
2	GATA2	chr11:102326627-102327011	HUVEC	blood vessel:	n/a	n/a
3	ZNF384	chr11:102326686-102326882	GM12878	blood:	n/a	n/a
4	ZNF384	chr11:102326623-102326971	K562	blood:	n/a	n/a
5	SPI1	chr11:102326665-102326866	GM12878	blood:	n/a	n/a
6	SPI1	chr11:102326348-102327050	HL-60	blood:	n/a	n/a
7	SPI1	chr11:102326510-102326977	GM12891	blood:	n/a	n/a
8	SPI1	chr11:102326644-102326890	GM12878	blood:	n/a	n/a
9	SPI1	chr11:102326637-102326884	K562	blood:	n/a	n/a
10	SPI1	chr11:102326645-102326869	K562	blood:	n/a	n/a
11	SPI1	chr11:102326544-102326912	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102321122..102328963-chr11:102333676..102341979,14	MCF-7	breast:
2	chr11:102325862..102328807-chr11:102333088..102335949,2	K562	blood:
3	chr11:102279177..102281049-chr11:102324433..102326986,2	K562	blood:

No data

Variant related genes	Relation type
TMEM123	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000255482	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1058606	0.98[EUR][1000 genomes]
rs10895292	0.83[EUR][1000 genomes]
rs10895293	0.83[EUR][1000 genomes]
rs10895296	0.98[EUR][1000 genomes]
rs10895299	1.00[AFR][1000 genomes]
rs11225235	0.83[EUR][1000 genomes]
rs11225236	0.83[EUR][1000 genomes]
rs11225237	0.83[EUR][1000 genomes]
rs11225242	0.98[EUR][1000 genomes]
rs11225243	0.98[EUR][1000 genomes]
rs11225244	0.98[EUR][1000 genomes]
rs11225247	0.98[EUR][1000 genomes]
rs11225251	0.92[EUR][1000 genomes]
rs11225266	1.00[AFR][1000 genomes]
rs11225278	1.00[AFR][1000 genomes]
rs11225286	1.00[AFR][1000 genomes]
rs11225287	1.00[AFR][1000 genomes]
rs11225290	1.00[AFR][1000 genomes]
rs11225297	1.00[AFR][1000 genomes]
rs11225299	1.00[AFR][1000 genomes]
rs11225300	1.00[AFR][1000 genomes]
rs11547915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11547916	0.98[EUR][1000 genomes]
rs11601671	0.83[EUR][1000 genomes]
rs11603677	0.83[EUR][1000 genomes]
rs11604008	0.83[EUR][1000 genomes]
rs11604271	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11605010	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605133	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605573	0.83[EUR][1000 genomes]
rs11605915	1.00[AFR][1000 genomes]
rs11607657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11607908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12184413	1.00[AFR][1000 genomes]
rs12269847	0.98[EUR][1000 genomes]
rs12271457	0.83[EUR][1000 genomes]
rs12271900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274405	0.83[EUR][1000 genomes]
rs12275185	0.98[EUR][1000 genomes]
rs12277594	0.83[EUR][1000 genomes]
rs12277747	0.96[EUR][1000 genomes]
rs12277853	0.83[EUR][1000 genomes]
rs12279056	0.83[EUR][1000 genomes]
rs12282486	0.83[EUR][1000 genomes]
rs12283885	0.83[EUR][1000 genomes]
rs12290033	0.83[EUR][1000 genomes]
rs12291114	0.83[EUR][1000 genomes]
rs12293094	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293834	0.98[EUR][1000 genomes]
rs1318199	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13377311	0.88[EUR][1000 genomes]
rs1574410	0.87[AMR][1000 genomes]
rs17098230	1.00[AFR][1000 genomes]
rs17349689	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17350205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17350590	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17769668	1.00[AFR][1000 genomes]
rs34296997	1.00[AFR][1000 genomes]
rs35457182	1.00[AFR][1000 genomes]
rs35569122	1.00[AFR][1000 genomes]
rs35972941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57346058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57562739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58250524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61123589	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61334418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs660908	1.00[ASN][1000 genomes]
rs7104841	0.98[EUR][1000 genomes]
rs7113906	0.83[EUR][1000 genomes]
rs7114048	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102324200-102326800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:102324200-102326800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr11:102324200-102337600	Weak transcription	Lung	lung
4	chr11:102324400-102327000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:102324400-102328000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:102324400-102328600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:102324400-102331200	Weak transcription	Pancreas	Pancrea
8	chr11:102324600-102326800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:102324600-102327000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:102324600-102327000	Enhancers	Primary T cells from cord blood	blood
11	chr11:102324600-102327000	Enhancers	HMEC	breast
12	chr11:102324600-102327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:102324600-102327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:102324600-102327400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:102324600-102327600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:102324600-102327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:102324600-102327800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:102324600-102328000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:102324600-102328000	Enhancers	Hela-S3	cervix
20	chr11:102324600-102328600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:102324600-102328600	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:102324600-102328600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:102324600-102329000	Enhancers	NHEK	skin
24	chr11:102324600-102329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:102324600-102330000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:102324600-102331800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:102324600-102344600	Weak transcription	Colonic Mucosa	Colon
28	chr11:102324800-102327400	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:102324800-102327400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr11:102324800-102328200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:102324800-102335000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:102324800-102335800	Enhancers	HepG2	liver
33	chr11:102325000-102328000	Enhancers	Brain Germinal Matrix	brain
34	chr11:102325000-102328000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:102325000-102328600	Weak transcription	Fetal Lung	lung
36	chr11:102325000-102329000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:102325000-102334600	Enhancers	Liver	Liver
38	chr11:102325000-102335600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:102325200-102327600	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:102325200-102328400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:102325200-102328600	Weak transcription	Fetal Brain Female	brain
42	chr11:102325200-102330000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:102325200-102335000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:102325400-102328000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:102325400-102329800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:102325600-102327000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:102325600-102327000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:102325600-102327400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:102325600-102327800	Enhancers	Placenta	Placenta
50	chr11:102325600-102329000	Enhancers	A549	lung

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