Variant report

Variant	rs72906793
Chromosome Location	chr4:100475847-100475848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100474957..100476980-chr4:100770765..100773597,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10516446	0.92[ASN][1000 genomes]
rs11097667	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097669	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12640855	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12643429	0.92[ASN][1000 genomes]
rs12647527	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12648918	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1352777	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029104	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029135	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029142	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17029165	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029251	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17029277	0.82[ASN][1000 genomes]
rs17029292	0.81[ASN][1000 genomes]
rs17597208	0.80[EUR][1000 genomes]
rs1873516	0.83[AFR][1000 genomes]
rs2298747	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306984	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792681	0.94[ASN][1000 genomes]
rs3828542	0.92[ASN][1000 genomes]
rs4235440	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699384	0.84[ASN][1000 genomes]
rs4699385	0.81[ASN][1000 genomes]
rs4699754	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699756	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59702776	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61074475	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6817049	0.82[ASN][1000 genomes]
rs6858032	0.81[ASN][1000 genomes]
rs6858700	0.82[ASN][1000 genomes]
rs72908710	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72908716	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72908742	0.86[ASN][1000 genomes]
rs871321	0.81[ASN][1000 genomes]
rs881980	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs931465	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs956200	0.90[ASN][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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3584519	chr4:100323870-100477462	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3584523	chr4:100437553-100476549	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100458600-100484000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:100459400-100477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:100462200-100483800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:100464600-100483800	Weak transcription	Primary T cells from cord blood	blood
5	chr4:100464800-100484000	Weak transcription	HMEC	breast
6	chr4:100465400-100484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:100466600-100484000	Weak transcription	Aorta	Aorta
8	chr4:100466800-100476400	Weak transcription	Left Ventricle	heart
9	chr4:100466800-100479600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:100466800-100483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:100467200-100484200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:100468000-100483600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:100468200-100476800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:100468400-100484000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:100468600-100483800	Weak transcription	Pancreas	Pancrea
16	chr4:100468600-100483800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:100468600-100484000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:100468600-100484200	Weak transcription	Ovary	ovary
19	chr4:100468800-100483800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:100469000-100484000	Weak transcription	Lung	lung
21	chr4:100469000-100484200	Weak transcription	NHDF-Ad	bronchial
22	chr4:100469200-100482000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:100469800-100483800	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:100470600-100480600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:100470800-100484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:100470800-100484000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:100471000-100483600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:100471000-100484000	Weak transcription	Brain Substantia Nigra	brain
29	chr4:100471400-100483800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:100471400-100484000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:100471600-100483800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:100471800-100483800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:100472000-100483600	Weak transcription	K562	blood
34	chr4:100472600-100484000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:100472800-100483200	Weak transcription	Placenta	Placenta
36	chr4:100472800-100484000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:100473000-100483800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:100473200-100483800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:100473200-100483800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:100473200-100484000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:100473400-100484000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:100473800-100476200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:100473800-100482600	Weak transcription	Fetal Lung	lung
44	chr4:100474000-100483800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:100474200-100484000	Weak transcription	Brain Angular Gyrus	brain
46	chr4:100474800-100483600	Weak transcription	Primary B cells from cord blood	blood
47	chr4:100475000-100476800	Weak transcription	Liver	Liver
48	chr4:100475000-100482000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr4:100475000-100483800	Weak transcription	Adipose Nuclei	Adipose
50	chr4:100475000-100484000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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