Variant report

Variant	rs11748554
Chromosome Location	chr5:43133500-43133501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43119354..43121566-chr5:43132272..43133967,2	MCF-7	breast:
2	chr5:43128367..43129950-chr5:43132099..43134344,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10072230	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744749	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617756	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622767	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242550	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17242918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2444780	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444781	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444782	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28778331	0.88[AMR][1000 genomes]
rs28845781	0.84[AMR][1000 genomes]
rs496570	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497982	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506244	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524985	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60289145	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73751050	1.00[ASN][1000 genomes]
rs7719222	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs782980	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
2	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
5	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
7	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:43124000-43134600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
11	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
12	chr5:43124200-43133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:43124200-43137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
16	chr5:43124400-43134600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:43124400-43134600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:43124400-43138200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
21	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:43124600-43133600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:43124600-43134000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr5:43124600-43137400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:43124600-43138600	Strong transcription	Fetal Intestine Large	intestine
26	chr5:43124800-43133600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:43125000-43134000	Strong transcription	Thymus	Thymus
28	chr5:43126000-43137400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:43126200-43136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:43126600-43133800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:43126600-43134600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:43126600-43137200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:43126600-43137400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:43127600-43178000	Strong transcription	Dnd41	blood
36	chr5:43128000-43151400	Weak transcription	Right Ventricle	heart
37	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
38	chr5:43128200-43133600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:43128200-43151000	Weak transcription	Ovary	ovary
40	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:43128400-43133600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:43128400-43133600	Strong transcription	Fetal Intestine Small	intestine
44	chr5:43128400-43137000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:43128400-43137000	Weak transcription	HepG2	liver
46	chr5:43128400-43137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:43128400-43140000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:43128400-43151600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle

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