Variant report

Variant	rs10838707
Chromosome Location	chr11:47428369-47428370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:47428340-47428490	HVMF	connective:	n/a	n/a
2	TEAD4	chr11:47428308-47428837	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:47428289-47428808	H1-hESC	embryonic stem cell:	n/a	chr11:47428617-47428631
4	JUN	chr11:47428356-47430878	K562	blood:	n/a	chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705
5	TEAD4	chr11:47428331-47428843	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
2	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
3	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
4	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
5	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
6	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
7	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
8	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
9	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
10	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
11	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:

No data

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000149182	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10838721	0.81[AMR][1000 genomes]
rs12422023	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752830	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61468175	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7110333	0.89[EUR][1000 genomes]
rs7130107	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47422200-47428800	Weak transcription	NH-A	brain
2	chr11:47422400-47428800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:47422400-47429000	Weak transcription	Fetal Brain Female	brain
4	chr11:47422600-47429000	Weak transcription	HSMMtube	muscle
5	chr11:47422800-47428400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:47422800-47428400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:47422800-47428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:47422800-47428400	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:47422800-47428600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:47422800-47428800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:47422800-47428800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:47422800-47429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:47422800-47429000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:47423000-47428400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:47423000-47428400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:47423000-47428400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:47423000-47428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:47423000-47428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:47423000-47428400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:47423000-47428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:47423000-47428400	Weak transcription	Hela-S3	cervix
22	chr11:47423000-47428600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:47423000-47428600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:47423000-47428600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:47423000-47428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:47423000-47428800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:47423200-47428400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:47423200-47428400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:47423200-47428600	Weak transcription	Fetal Heart	heart
30	chr11:47423400-47428600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:47423600-47428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:47423600-47428400	Weak transcription	GM12878-XiMat	blood
33	chr11:47423600-47428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:47425200-47428400	Weak transcription	Placenta	Placenta
35	chr11:47425400-47428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:47425400-47428600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:47425600-47428400	Weak transcription	Spleen	Spleen
38	chr11:47425800-47428400	Weak transcription	HepG2	liver
39	chr11:47426800-47428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:47427000-47428400	Weak transcription	K562	blood
41	chr11:47427400-47428800	Weak transcription	Fetal Kidney	kidney
42	chr11:47427600-47428400	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:47427600-47428600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:47427800-47428400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:47427800-47428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:47427800-47428800	Enhancers	Primary hematopoietic stem cells	blood
47	chr11:47428000-47428400	Enhancers	Primary B cells from cord blood	blood
48	chr11:47428000-47429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr11:47428200-47428800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:47428200-47428800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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