Variant report

Variant	rs10033218
Chromosome Location	chr4:53580194-53580195
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:53524001..53527558-chr4:53577308..53580194,4	MCF-7	breast:
2	chr4:53522503..53529252-chr4:53576629..53581800,10	K562	blood:
3	chr4:53523968..53528771-chr4:53576572..53580241,9	MCF-7	breast:
4	chr4:53579771..53582253-chr4:53810608..53813495,2	K562	blood:
5	chr4:53579503..53581551-chr4:57842503..57844700,2	K562	blood:
6	chr4:53523849..53530507-chr4:53576531..53584814,17	K562	blood:
7	chr4:53577642..53581381-chr4:53614382..53619478,5	MCF-7	breast:
8	chr4:53454674..53456829-chr4:53580102..53581805,2	K562	blood:
9	chr4:53491338..53494624-chr4:53578628..53580655,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000109189	Chromatin interaction
ENSG00000047315	Chromatin interaction
ENSG00000248866	Chromatin interaction
ENSG00000248115	Chromatin interaction
ENSG00000266656	Chromatin interaction
ENSG00000226887	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10000311	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10001085	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10001370	0.87[ASN][1000 genomes]
rs10001387	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10002261	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10003396	0.87[ASN][1000 genomes]
rs10010306	0.93[ASN][1000 genomes]
rs10012676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10014752	1.00[ASN][1000 genomes]
rs10014850	0.94[ASN][1000 genomes]
rs10020568	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10021143	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10023867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10027906	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10028085	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10028755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10029145	0.93[ASN][1000 genomes]
rs10031386	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10032700	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10471216	1.00[ASN][1000 genomes]
rs13434726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13435157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28376189	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28376284	1.00[AFR][1000 genomes]
rs28379922	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28380682	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28396506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402205	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28411005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28412170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28430452	1.00[ASN][1000 genomes]
rs28436702	0.87[AFR][1000 genomes]
rs28451750	0.93[ASN][1000 genomes]
rs28475600	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28478374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28482298	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28503210	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28514875	1.00[AFR][1000 genomes]
rs28565016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28588481	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28590396	1.00[ASN][1000 genomes]
rs28619184	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28644292	0.93[ASN][1000 genomes]
rs28651623	1.00[AFR][1000 genomes]
rs28654693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28660550	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28660571	1.00[ASN][1000 genomes]
rs28672279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28694544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28711292	1.00[AFR][1000 genomes]
rs28721897	1.00[ASN][1000 genomes]
rs28722174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28784684	1.00[ASN][1000 genomes]
rs28825181	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28825412	1.00[ASN][1000 genomes]
rs28849759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28852068	1.00[ASN][1000 genomes]
rs6830833	1.00[ASN][1000 genomes]
rs7673679	0.90[ASN][1000 genomes]
rs9990686	1.00[ASN][1000 genomes]
rs9994643	1.00[ASN][1000 genomes]
rs9997863	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1000931	chr4:53420849-53689319	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537093	chr4:53420849-53689319	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv948860	chr4:53421172-53675549	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv524494	chr4:53459620-53582065	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1005869	chr4:53571901-53649247	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 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	chr4:53578000-53580200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:53578000-53580400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr4:53578000-53580800	Active TSS	Right Ventricle	heart
4	chr4:53578200-53580200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr4:53578600-53581600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:53579000-53580400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:53579000-53581000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
8	chr4:53579000-53581600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr4:53579200-53580200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr4:53579200-53580200	Flanking Active TSS	Placenta	Placenta
11	chr4:53579200-53580400	Enhancers	Spleen	Spleen
12	chr4:53579200-53580600	Active TSS	Right Atrium	heart
13	chr4:53579200-53581200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
14	chr4:53579200-53581600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr4:53579200-53582000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr4:53579200-53582200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:53579400-53580200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:53579400-53580200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr4:53579400-53580400	Flanking Active TSS	Fetal Brain Female	brain
20	chr4:53579400-53580800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
21	chr4:53579400-53581000	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
22	chr4:53579400-53581400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:53579400-53581400	Transcr. at gene 5' and 3'	NHEK	skin
24	chr4:53579400-53581600	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
25	chr4:53579400-53581800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
26	chr4:53579400-53582000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
27	chr4:53579400-53582200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
28	chr4:53579400-53582200	Transcr. at gene 5' and 3'	K562	blood
29	chr4:53579600-53580200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:53579600-53580200	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:53579600-53580200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:53579600-53580200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:53579600-53580200	Flanking Active TSS	Colonic Mucosa	Colon
34	chr4:53579600-53580200	Enhancers	Gastric	stomach
35	chr4:53579600-53580200	Transcr. at gene 5' and 3'	Pancreas	Pancrea
36	chr4:53579600-53580200	Active TSS	HSMMtube	muscle
37	chr4:53579600-53580400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:53579600-53580400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:53579600-53580400	Transcr. at gene 5' and 3'	NH-A	brain
40	chr4:53579600-53580600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:53579600-53580600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:53579600-53580600	Transcr. at gene 5' and 3'	Fetal Heart	heart
43	chr4:53579600-53580800	Transcr. at gene 5' and 3'	HMEC	breast
44	chr4:53579600-53581000	Transcr. at gene 5' and 3'	Hela-S3	cervix
45	chr4:53579600-53581400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr4:53579600-53581800	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr4:53579600-53581800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
48	chr4:53579600-53581800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:53579600-53581800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:53579600-53581800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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