Variant report

Variant	rs72786122
Chromosome Location	chr5:118643238-118643239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118636676..118639200-chr5:118642747..118645465,2	MCF-7	breast:
2	chr5:118643237..118645769-chr5:118664741..118667190,3	K562	blood:
3	chr5:118642887..118645092-chr5:118652182..118653944,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10519575	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519576	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519581	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56319623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58131651	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60599743	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67186626	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879962	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892643	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892980	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786106	1.00[ASN][1000 genomes]
rs72786107	0.95[EUR][1000 genomes]
rs72786113	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786116	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786118	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786120	1.00[ASN][1000 genomes]
rs72786125	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73248971	0.93[EUR][1000 genomes]
rs73794107	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73794110	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7701688	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118638800-118649400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:118639200-118643600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:118639200-118643800	Weak transcription	Small Intestine	intestine
9	chr5:118639200-118644000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:118639200-118644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:118639200-118644200	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:118639200-118645800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:118639200-118649600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:118639200-118657200	Weak transcription	Lung	lung
15	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:118639400-118644600	Weak transcription	HSMMtube	muscle
17	chr5:118639400-118646000	Weak transcription	Fetal Stomach	stomach
18	chr5:118639400-118653800	Weak transcription	Fetal Kidney	kidney
19	chr5:118639600-118643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:118639600-118643800	Enhancers	Primary T cells from cord blood	blood
21	chr5:118639600-118644000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:118640200-118643400	Weak transcription	Fetal Lung	lung
24	chr5:118640200-118644000	Weak transcription	Placenta	Placenta
25	chr5:118640200-118645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:118640400-118643600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:118640400-118644000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:118640400-118644200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:118640400-118644200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:118640400-118644200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:118640400-118644600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:118640400-118645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
34	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:118640600-118644000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr5:118640600-118644600	Weak transcription	HSMM	muscle
37	chr5:118640600-118654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:118640800-118644000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:118640800-118651200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:118641000-118644600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:118641000-118644600	Weak transcription	NH-A	brain
42	chr5:118641200-118649000	Weak transcription	NHLF	lung
43	chr5:118641200-118651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:118641400-118644000	Weak transcription	HepG2	liver
45	chr5:118641400-118644000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:118641400-118644600	Weak transcription	NHEK	skin
47	chr5:118641600-118644000	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:118641600-118644000	Weak transcription	HUVEC	blood vessel
49	chr5:118641800-118644000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:118641800-118644400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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