Variant report

Variant	rs73783512
Chromosome Location	chr5:126364309-126364310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126113643..126115692-chr5:126362942..126365785,2	K562	blood:
2	chr5:126181847..126184918-chr5:126362668..126365476,3	K562	blood:
3	chr5:126364290..126367111-chr5:126408529..126412360,4	MCF-7	breast:
4	chr5:126362494..126364434-chr5:126372915..126374749,2	K562	blood:
5	chr5:126364050..126367985-chr5:126407589..126410597,4	K562	blood:
6	chr5:126362711..126365443-chr5:126540946..126543546,2	MCF-7	breast:
7	chr5:126183285..126184918-chr5:126362668..126364579,2	K562	blood:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11949784	0.94[EUR][1000 genomes]
rs11950032	0.83[EUR][1000 genomes]
rs11952890	0.94[EUR][1000 genomes]
rs11959383	0.94[EUR][1000 genomes]
rs12109713	1.00[EUR][1000 genomes]
rs58134448	0.89[EUR][1000 genomes]
rs58159475	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61146816	1.00[EUR][1000 genomes]
rs6860157	1.00[EUR][1000 genomes]
rs73339263	1.00[EUR][1000 genomes]
rs73339278	1.00[EUR][1000 genomes]
rs73339281	1.00[EUR][1000 genomes]
rs73339286	1.00[EUR][1000 genomes]
rs73783538	0.94[EUR][1000 genomes]
rs73783539	0.94[EUR][1000 genomes]
rs73783540	0.94[EUR][1000 genomes]
rs73783541	0.94[EUR][1000 genomes]
rs73783556	0.94[EUR][1000 genomes]
rs73783557	0.94[EUR][1000 genomes]
rs73783560	0.94[EUR][1000 genomes]
rs73783575	0.94[EUR][1000 genomes]
rs73783579	0.94[EUR][1000 genomes]
rs73783580	0.94[EUR][1000 genomes]
rs73786204	0.83[EUR][1000 genomes]
rs73787407	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73787408	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9918170	1.00[EUR][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	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126347800-126365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126349200-126364400	Weak transcription	Primary T cells from cord blood	blood
3	chr5:126351800-126365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:126356000-126364400	Weak transcription	GM12878-XiMat	blood
5	chr5:126360000-126364400	Weak transcription	Small Intestine	intestine
6	chr5:126360200-126364400	Weak transcription	Right Atrium	heart
7	chr5:126360200-126364400	Weak transcription	NH-A	brain
8	chr5:126360200-126364600	Weak transcription	Spleen	Spleen
9	chr5:126360400-126364400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:126361000-126364400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:126361000-126364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:126361200-126364400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:126361400-126364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:126361600-126364400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:126361800-126364400	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:126361800-126365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:126362000-126364400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:126362000-126365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:126362200-126364400	Weak transcription	HSMMtube	muscle
20	chr5:126362200-126364600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:126362600-126364400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:126362800-126364400	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:126362800-126365200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:126362800-126365200	Weak transcription	Pancreas	Pancrea
25	chr5:126362800-126367200	Active TSS	Right Ventricle	heart
26	chr5:126363000-126364400	Enhancers	Ovary	ovary
27	chr5:126363000-126367200	Active TSS	HSMM	muscle
28	chr5:126363200-126364400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:126363200-126364400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:126363200-126364400	Weak transcription	Psoas Muscle	Psoas
31	chr5:126363200-126364400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:126363200-126364600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:126363400-126364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:126363400-126364400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:126363400-126364400	Weak transcription	Fetal Heart	heart
36	chr5:126363400-126364400	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:126363400-126364400	Weak transcription	Left Ventricle	heart
38	chr5:126363400-126364600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:126363600-126364600	Enhancers	Primary B cells from cord blood	blood
40	chr5:126363800-126364400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:126364000-126364400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:126364000-126364400	Enhancers	Osteobl	bone
43	chr5:126364200-126364400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:126364200-126364400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:126364200-126364400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr5:126364200-126364400	Active TSS	Adipose Nuclei	Adipose
47	chr5:126364200-126364400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr5:126364200-126364400	Enhancers	Duodenum Mucosa	Duodenum
49	chr5:126364200-126364400	Active TSS	Fetal Brain Female	brain
50	chr5:126364200-126364400	Enhancers	Rectal Mucosa Donor 31	rectum

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