Variant report

Variant	rs7112154
Chromosome Location	chr11:47375553-47375554
allele	A/G
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:8)
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	MTA3	chr11:47375373-47375781	GM12878	blood:	n/a	n/a
2	HCFC1	chr11:47375283-47378502	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:47375506-47376085	K562	blood:	n/a	n/a
4	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:47375214-47379216	HL-60	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47366884..47369322-chr11:47374735..47376976,2	K562	blood:
2	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
3	chr11:47375322..47377649-chr11:47398628..47401440,2	K562	blood:
4	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
5	chr11:47374451..47376325-chr11:47427104..47429817,2	MCF-7	breast:
6	chr11:47374545..47377220-chr11:47429148..47430894,2	K562	blood:
7	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:
8	chr11:47201336..47204009-chr11:47374499..47376871,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000066336	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11570058	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11570067	0.87[EUR][1000 genomes]
rs11570078	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3729989	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61897389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897390	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897391	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897423	0.88[AFR][1000 genomes];0.86[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:41 , 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	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:47369800-47375600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:47370800-47377000	Weak transcription	K562	blood
5	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:47371200-47376200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:47372600-47376200	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:47372800-47376000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:47372800-47376400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:47373000-47376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:47373200-47375600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:47373200-47375600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:47373400-47375600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:47373400-47376000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:47373800-47376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:47373800-47376200	Weak transcription	A549	lung
17	chr11:47373800-47376400	Weak transcription	Placenta	Placenta
18	chr11:47373800-47377000	Weak transcription	Fetal Lung	lung
19	chr11:47373800-47377200	Weak transcription	Gastric	stomach
20	chr11:47374000-47375800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:47374000-47376200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:47374000-47376200	Weak transcription	Stomach Mucosa	stomach
23	chr11:47374000-47376600	Weak transcription	Ovary	ovary
24	chr11:47374200-47376200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:47374200-47377200	Enhancers	Fetal Heart	heart
26	chr11:47374400-47376400	Weak transcription	Right Atrium	heart
27	chr11:47374400-47376400	Weak transcription	Right Ventricle	heart
28	chr11:47374600-47375600	Weak transcription	Left Ventricle	heart
29	chr11:47374600-47375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:47374600-47376600	Weak transcription	Pancreas	Pancrea
31	chr11:47374600-47376800	Weak transcription	Spleen	Spleen
32	chr11:47374800-47375600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:47374800-47375800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:47374800-47376200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:47374800-47376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:47374800-47376600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:47375400-47375600	Bivalent Enhancer	HepG2	liver
39	chr11:47375400-47376000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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