Variant report

Variant	rs11133794
Chromosome Location	chr5:14728234-14728235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14727003..14729334-chr5:14870554..14873221,2	K562	blood:
2	chr5:14727116..14728426-chr5:15013298..15014619,7	K562	blood:
3	chr5:14726225..14728660-chr5:15003605..15005990,2	K562	blood:
4	chr5:14727729..14729435-chr5:14870838..14872858,2	MCF-7	breast:
5	chr5:14727102..14728758-chr5:15003281..15004273,7	MCF-7	breast:
6	chr5:14727511..14729502-chr5:14871979..14873921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154122	Chromatin interaction
ENSG00000272057	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13189930	0.97[ASN][1000 genomes]
rs25983	0.92[ASN][1000 genomes]
rs27356	0.91[ASN][1000 genomes]
rs745328	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
3	chr5:14715200-14728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:14715200-14728600	Weak transcription	Esophagus	oesophagus
5	chr5:14715200-14736200	Weak transcription	Pancreas	Pancrea
6	chr5:14715200-14737400	Weak transcription	Spleen	Spleen
7	chr5:14716000-14730600	Weak transcription	Fetal Thymus	thymus
8	chr5:14716000-14737000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:14717200-14728800	Weak transcription	Lung	lung
10	chr5:14717200-14730600	Weak transcription	Ovary	ovary
11	chr5:14718200-14733000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:14721200-14730000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:14721400-14739000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:14721400-14741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:14721600-14729800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:14721600-14737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:14721600-14738200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:14725200-14740200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:14725600-14732200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:14725800-14728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:14725800-14730000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:14725800-14730200	Weak transcription	Aorta	Aorta
24	chr5:14725800-14745400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:14726000-14728400	Weak transcription	Thymus	Thymus
26	chr5:14726000-14728400	Genic enhancers	Osteobl	bone
27	chr5:14726000-14728800	Enhancers	Fetal Heart	heart
28	chr5:14726000-14729200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:14726200-14728400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:14726200-14728800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:14726200-14729000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:14726200-14729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:14726600-14728400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:14726600-14728600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:14726800-14729600	Weak transcription	Fetal Stomach	stomach
36	chr5:14726800-14730200	Weak transcription	Right Ventricle	heart
37	chr5:14726800-14739000	Weak transcription	HMEC	breast
38	chr5:14726800-14739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:14726800-14739600	Weak transcription	NHEK	skin
40	chr5:14727000-14728800	Enhancers	Brain Angular Gyrus	brain
41	chr5:14727000-14729400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:14727000-14745600	Weak transcription	Placenta	Placenta
43	chr5:14727200-14728600	Weak transcription	Gastric	stomach
44	chr5:14727200-14728800	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:14727200-14729000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr5:14727200-14729200	Enhancers	Fetal Brain Female	brain
47	chr5:14727200-14729800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:14727200-14730600	Weak transcription	Dnd41	blood
49	chr5:14727200-14736400	Weak transcription	Primary T cells from cord blood	blood
50	chr5:14727200-14742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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