Variant report

Variant	rs11950860
Chromosome Location	chr5:126565803-126565804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126551353..126555080-chr5:126562257..126566254,3	MCF-7	breast:
2	chr5:126406696..126409749-chr5:126564025..126566691,3	MCF-7	breast:
3	chr5:126563846..126566302-chr5:126579548..126581545,2	MCF-7	breast:
4	chr5:126560427..126561970-chr5:126563640..126565855,2	K562	blood:
5	chr5:126364336..126367272-chr5:126565030..126567076,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11949382	0.80[AFR][1000 genomes]
rs4293963	0.80[AFR][1000 genomes]
rs55961413	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785534	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785541	0.85[AFR][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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126564400-126566000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr5:126564400-126566000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr5:126564400-126566000	Active TSS	Rectal Smooth Muscle	rectum
4	chr5:126564600-126566000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr5:126564600-126566000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:126564600-126566000	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:126564800-126566000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:126564800-126566000	Active TSS	Duodenum Mucosa	Duodenum
9	chr5:126565000-126566000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:126565000-126566200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr5:126565200-126566000	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr5:126565400-126566000	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr5:126565400-126566000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:126565400-126566000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:126565400-126566000	Flanking Active TSS	Fetal Thymus	thymus
16	chr5:126565400-126570000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:126565600-126566000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr5:126565600-126566000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr5:126565600-126566000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr5:126565600-126566000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:126565600-126566000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:126565600-126566000	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr5:126565600-126566000	Enhancers	Gastric	stomach
24	chr5:126565600-126566000	Enhancers	Pancreas	Pancrea
25	chr5:126565600-126566200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:126565600-126566200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr5:126565600-126569200	Weak transcription	Spleen	Spleen
28	chr5:126565600-126576200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:126565800-126566000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr5:126565800-126566000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr5:126565800-126566000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:126565800-126566000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:126565800-126566000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr5:126565800-126566000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr5:126565800-126566000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr5:126565800-126566000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:126565800-126566000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:126565800-126566000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr5:126565800-126566000	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:126565800-126566000	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr5:126565800-126566000	Active TSS	Colonic Mucosa	Colon
42	chr5:126565800-126566000	Enhancers	Esophagus	oesophagus
43	chr5:126565800-126566000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:126565800-126566000	Enhancers	Placenta	Placenta
45	chr5:126565800-126566000	Enhancers	Stomach Mucosa	stomach
46	chr5:126565800-126566000	Enhancers	Thymus	Thymus
47	chr5:126565800-126566000	Enhancers	HUVEC	blood vessel
48	chr5:126565800-126566000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:126565800-126566200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:126565800-126566200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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