Variant report

Variant	rs6485752
Chromosome Location	chr11:47374911-47374912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47366884..47369322-chr11:47374735..47376976,2	K562	blood:
2	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
3	chr11:47374451..47376325-chr11:47427104..47429817,2	MCF-7	breast:
4	chr11:47374545..47377220-chr11:47429148..47430894,2	K562	blood:
5	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:
6	chr11:47201336..47204009-chr11:47374499..47376871,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000255197	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165915	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11039095	0.82[EUR][1000 genomes]
rs11039104	0.82[EUR][1000 genomes]
rs12422023	0.83[ASN][1000 genomes]
rs2697919	0.91[AMR][1000 genomes]
rs3729985	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752830	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61468175	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][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	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:47369800-47375600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:47370800-47377000	Weak transcription	K562	blood
6	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:47371200-47376200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:47372600-47376200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:47372800-47376000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:47372800-47376400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:47373000-47376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:47373200-47375400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:47373200-47375600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:47373200-47375600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:47373400-47375600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:47373400-47376000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:47373800-47376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:47373800-47376200	Weak transcription	A549	lung
19	chr11:47373800-47376400	Weak transcription	Placenta	Placenta
20	chr11:47373800-47377000	Weak transcription	Fetal Lung	lung
21	chr11:47373800-47377200	Weak transcription	Gastric	stomach
22	chr11:47374000-47375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:47374000-47376200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:47374000-47376200	Weak transcription	Stomach Mucosa	stomach
25	chr11:47374000-47376600	Weak transcription	Ovary	ovary
26	chr11:47374200-47376200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:47374200-47377200	Enhancers	Fetal Heart	heart
28	chr11:47374400-47376400	Weak transcription	Right Atrium	heart
29	chr11:47374400-47376400	Weak transcription	Right Ventricle	heart
30	chr11:47374600-47375600	Weak transcription	Left Ventricle	heart
31	chr11:47374600-47375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:47374600-47376600	Weak transcription	Pancreas	Pancrea
33	chr11:47374600-47376800	Weak transcription	Spleen	Spleen
34	chr11:47374800-47375600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:47374800-47375800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:47374800-47376200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:47374800-47376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:47374800-47376600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood

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