Variant report

Variant	rs11948865
Chromosome Location	chr5:118754974-118754975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118739304..118742654-chr5:118752620..118755578,3	K562	blood:
2	chr5:118746206..118749496-chr5:118750368..118755239,5	K562	blood:
3	chr5:118754174..118756633-chr5:118758402..118759986,2	MCF-7	breast:
4	chr5:118603215..118605720-chr5:118754635..118756360,2	MCF-7	breast:
5	chr5:118747162..118749496-chr5:118752473..118755239,2	K562	blood:
6	chr5:118740750..118742654-chr5:118753714..118755578,2	K562	blood:
7	chr5:118753173..118755307-chr5:118768998..118771173,2	MCF-7	breast:
8	chr5:118735386..118738101-chr5:118752192..118755044,3	K562	blood:
9	chr5:118753614..118755538-chr5:118867454..118869085,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10067861	1.00[EUR][1000 genomes]
rs10073635	1.00[EUR][1000 genomes]
rs10478420	1.00[EUR][1000 genomes]
rs11949545	1.00[EUR][1000 genomes]
rs11951660	1.00[EUR][1000 genomes]
rs11952687	1.00[EUR][1000 genomes]
rs11955089	1.00[EUR][1000 genomes]
rs11956487	1.00[EUR][1000 genomes]
rs11959643	1.00[EUR][1000 genomes]
rs12714	1.00[EUR][1000 genomes]
rs2560723	1.00[EUR][1000 genomes]
rs28943594	1.00[EUR][1000 genomes]
rs35182344	1.00[EUR][1000 genomes]
rs35764784	1.00[EUR][1000 genomes]
rs3843986	1.00[EUR][1000 genomes]
rs3850203	1.00[EUR][1000 genomes]
rs3850204	1.00[EUR][1000 genomes]
rs4099736	1.00[EUR][1000 genomes]
rs56749571	0.91[AFR][1000 genomes]
rs57270573	1.00[EUR][1000 genomes]
rs57592998	1.00[EUR][1000 genomes]
rs57990091	1.00[EUR][1000 genomes]
rs58527989	1.00[EUR][1000 genomes]
rs59177585	1.00[EUR][1000 genomes]
rs59940947	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60069733	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60684792	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60871537	1.00[EUR][1000 genomes]
rs61460721	1.00[EUR][1000 genomes]
rs61645108	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6868057	1.00[EUR][1000 genomes]
rs73235250	1.00[EUR][1000 genomes]
rs73235258	1.00[EUR][1000 genomes]
rs73236713	1.00[EUR][1000 genomes]
rs73236767	1.00[EUR][1000 genomes]
rs73236771	1.00[EUR][1000 genomes]
rs73237264	1.00[EUR][1000 genomes]
rs73238798	1.00[EUR][1000 genomes]
rs73240903	1.00[EUR][1000 genomes]
rs73241213	1.00[EUR][1000 genomes]
rs73241292	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73243205	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73246514	1.00[EUR][1000 genomes]
rs73246536	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73249960	1.00[EUR][1000 genomes]
rs73249990	1.00[EUR][1000 genomes]
rs73250002	1.00[EUR][1000 genomes]
rs73251677	1.00[EUR][1000 genomes]
rs73791001	1.00[EUR][1000 genomes]
rs7708761	1.00[EUR][1000 genomes]
rs7723718	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118748000-118755400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:118748200-118755000	Weak transcription	Liver	Liver
3	chr5:118752600-118756800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:118753200-118756800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:118753200-118757200	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:118753400-118756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:118753400-118756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118753600-118755000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:118753800-118756800	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:118753800-118758400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:118754000-118756000	Weak transcription	HMEC	breast
13	chr5:118754200-118755400	Weak transcription	Esophagus	oesophagus
14	chr5:118754200-118755400	Enhancers	GM12878-XiMat	blood
15	chr5:118754200-118756200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:118754400-118756800	Enhancers	Placenta	Placenta
17	chr5:118754400-118757200	Enhancers	Primary B cells from cord blood	blood
18	chr5:118754400-118758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:118754400-118758200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:118754800-118755200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:118754800-118755600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:118754800-118755800	Weak transcription	Stomach Mucosa	stomach
23	chr5:118754800-118755800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:118754800-118756000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:118754800-118758000	Weak transcription	NHEK	skin
26	chr5:118754800-118758200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:118754800-118762200	Weak transcription	K562	blood

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