Variant report

Variant	rs11548184
Chromosome Location	chr10:43891993-43891994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:43631919..43634384-chr10:43890115..43892168,2	K562	blood:
2	chr10:43868700..43874062-chr10:43890607..43893448,6	MCF-7	breast:
3	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
4	chr10:43868968..43875759-chr10:43890269..43893335,11	MCF-7	breast:
5	chr10:43697420..43700683-chr10:43890424..43894292,4	K562	blood:
6	chr10:43891174..43892847-chr10:44101479..44103589,2	K562	blood:
7	chr10:43891265..43892240-chr10:43903154..43903688,2	MCF-7	breast:
8	chr10:43889891..43893674-chr10:43930869..43934431,5	MCF-7	breast:
9	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
10	chr1:152940729..152943667-chr10:43889848..43892528,2	MCF-7	breast:
11	chr10:43846613..43849361-chr10:43890166..43892037,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169826	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000252532	Chromatin interaction
ENSG00000198298	Chromatin interaction
ENSG00000273008	Chromatin interaction
ENSG00000232004	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000198915	Chromatin interaction
ENSG00000150201	Chromatin interaction
ENSG00000184148	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11813634	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11813872	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11814130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11816311	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11817218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11817723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817841	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11818610	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11819010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354765	0.96[ASN][1000 genomes]
rs12569974	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12570067	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12570790	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12571047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571447	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12571906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571914	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12572226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12572292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34634785	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41306552	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41307500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55659835	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57862979	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59770090	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60057912	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60274910	0.83[AMR][1000 genomes]
rs61113633	0.85[ASN][1000 genomes]
rs61858960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858962	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858966	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61858967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858989	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858996	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61858999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859003	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859048	0.83[EUR][1000 genomes]
rs61859049	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859050	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859051	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859054	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859055	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859056	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61859058	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61859962	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859963	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859965	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859966	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859967	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859968	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61859970	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860000	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860003	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860005	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860008	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860009	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860012	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61860013	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860014	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61860882	1.00[AFR][1000 genomes]
rs61860883	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61860885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61860890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	esv3387789	chr10:43891371-43893919	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	10 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	chr10:43889000-43892000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
2	chr10:43889000-43892200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr10:43890000-43892000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:43890200-43892000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:43890200-43892000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
6	chr10:43890400-43892000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr10:43890400-43892000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr10:43890400-43892200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:43890400-43893600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:43890600-43892000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr10:43890600-43892000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
12	chr10:43890600-43892200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:43890600-43893000	Active TSS	Fetal Kidney	kidney
14	chr10:43890600-43893200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:43890600-43893200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:43890800-43892200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:43890800-43892200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr10:43890800-43892200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr10:43890800-43892200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr10:43890800-43893200	Active TSS	HSMMtube	muscle
21	chr10:43890800-43893400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:43890800-43893400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:43891000-43892000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr10:43891000-43892000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:43891000-43892000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr10:43891000-43892000	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr10:43891000-43892000	Flanking Active TSS	Placenta	Placenta
28	chr10:43891000-43892000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr10:43891000-43892000	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr10:43891000-43892200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr10:43891000-43892200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr10:43891000-43892200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr10:43891000-43892800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:43891000-43893000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:43891000-43893000	Active TSS	Lung	lung
36	chr10:43891000-43893200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:43891000-43893200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:43891000-43893400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:43891000-43893400	Active TSS	Fetal Intestine Large	intestine
40	chr10:43891000-43893600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr10:43891000-43893800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr10:43891200-43892000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:43891200-43892000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr10:43891200-43892800	Active TSS	Liver	Liver
45	chr10:43891200-43893000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:43891200-43893000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr10:43891200-43893000	Active TSS	Fetal Lung	lung
48	chr10:43891200-43893000	Active TSS	Placenta Amnion	Placenta Amnion
49	chr10:43891200-43893200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:43891200-43893200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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