Variant report

Variant	rs10742821
Chromosome Location	chr11:47813436-47813437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47811479..47814279-chr11:47822398..47824365,2	K562	blood:
2	chr11:47806353..47811128-chr11:47812810..47817324,4	K562	blood:
3	chr11:47786752..47788921-chr11:47812396..47814784,2	K562	blood:
4	chr11:47812779..47814742-chr11:47822248..47824365,2	K562	blood:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction
ENSG00000030066	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1017731	1.00[AFR][1000 genomes]
rs10742823	0.83[AFR][1000 genomes]
rs11039366	1.00[AFR][1000 genomes]
rs1228049	0.83[AFR][1000 genomes]
rs2125835	1.00[AFR][1000 genomes]
rs2626566	0.83[AFR][1000 genomes]
rs2950887	0.83[AFR][1000 genomes]
rs34037669	1.00[AFR][1000 genomes]
rs4752794	1.00[AFR][1000 genomes]
rs4752795	1.00[AFR][1000 genomes]
rs4752864	1.00[AFR][1000 genomes]
rs4752866	1.00[AFR][1000 genomes]
rs4752870	1.00[AFR][1000 genomes]
rs6485766	1.00[AFR][1000 genomes]
rs6485776	1.00[AFR][1000 genomes]
rs6485777	1.00[AFR][1000 genomes]
rs6485785	1.00[AFR][1000 genomes]
rs7110289	1.00[AFR][1000 genomes]
rs7478773	1.00[AFR][1000 genomes]
rs930940	1.00[AFR][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	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47790000-47837800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47790200-47869200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:47790800-47832200	Weak transcription	Small Intestine	intestine
4	chr11:47795200-47845600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:47795400-47866600	Strong transcription	Fetal Thymus	thymus
6	chr11:47795400-47868400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:47796000-47816800	Strong transcription	GM12878-XiMat	blood
8	chr11:47796200-47813600	Strong transcription	Adipose Nuclei	Adipose
9	chr11:47796200-47834000	Strong transcription	Fetal Stomach	stomach
10	chr11:47796200-47837800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:47796200-47843600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:47796200-47845200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:47796200-47845600	Strong transcription	Placenta	Placenta
14	chr11:47796200-47849400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:47796200-47849800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:47796200-47850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:47796200-47867400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:47796200-47868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:47796200-47868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:47796200-47868400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:47796200-47868400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:47796200-47868600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:47796400-47814400	Strong transcription	Fetal Intestine Large	intestine
24	chr11:47796400-47824800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:47796400-47844000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:47796400-47848800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:47796400-47848800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:47796400-47850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:47796400-47858800	Strong transcription	Liver	Liver
30	chr11:47796400-47867600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:47796600-47843600	Strong transcription	Brain Germinal Matrix	brain
32	chr11:47796600-47850800	Strong transcription	Hela-S3	cervix
33	chr11:47796600-47868600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:47796800-47813800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:47796800-47837600	Strong transcription	Dnd41	blood
36	chr11:47796800-47843800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:47796800-47852000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:47798000-47868000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:47798400-47837800	Strong transcription	Thymus	Thymus
40	chr11:47798400-47845200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr11:47798400-47864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:47798600-47819000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr11:47798600-47819000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:47798600-47851600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:47798800-47813600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:47798800-47816400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:47798800-47820800	Strong transcription	A549	lung
48	chr11:47801000-47833200	Weak transcription	Stomach Mucosa	stomach
49	chr11:47802600-47815200	Strong transcription	HepG2	liver
50	chr11:47804800-47819400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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