Variant report

Variant	rs73248974
Chromosome Location	chr5:118618132-118618133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118603499..118605082-chr5:118615782..118618540,2	K562	blood:
2	chr5:118603582..118605779-chr5:118616439..118618624,3	K562	blood:
3	chr5:118603726..118606822-chr5:118616119..118619037,3	MCF-7	breast:
4	chr5:118617115..118620555-chr5:118621915..118624851,4	MCF-7	breast:
5	chr5:118606692..118610066-chr5:118616114..118619938,5	K562	blood:
6	chr5:118615616..118617305-chr5:118617744..118619275,2	K562	blood:
7	chr5:118603343..118605781-chr5:118616731..118619723,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10452544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs12109360	0.88[AFR][1000 genomes]
rs17144974	1.00[AMR][1000 genomes]
rs57574427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59473275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59758980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235244	1.00[AMR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250902	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252308	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252311	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252320	1.00[AMR][1000 genomes]
rs73252322	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
3	chr5:118610400-118618200	Weak transcription	Left Ventricle	heart
4	chr5:118610400-118619600	Genic enhancers	Dnd41	blood
5	chr5:118610600-118619800	Weak transcription	Aorta	Aorta
6	chr5:118610600-118622600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:118611200-118620400	Weak transcription	A549	lung
9	chr5:118611200-118621000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:118611200-118623200	Weak transcription	Fetal Intestine Small	intestine
11	chr5:118611200-118625200	Weak transcription	Right Atrium	heart
12	chr5:118611400-118620400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:118611400-118621000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:118611400-118622600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:118611600-118621000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:118611800-118618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:118611800-118623200	Weak transcription	HUVEC	blood vessel
18	chr5:118612000-118619600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:118612000-118622400	Weak transcription	Lung	lung
20	chr5:118612000-118625200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:118612400-118619800	Weak transcription	Placenta	Placenta
22	chr5:118612600-118620800	Weak transcription	Stomach Mucosa	stomach
23	chr5:118613200-118623400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:118613800-118626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:118614000-118623400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:118614400-118618200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:118614400-118618200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:118614400-118618200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:118614400-118618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:118614400-118618200	Weak transcription	NHEK	skin
31	chr5:118614400-118619200	Genic enhancers	Primary B cells from cord blood	blood
32	chr5:118614400-118620800	Weak transcription	Small Intestine	intestine
33	chr5:118614400-118623200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr5:118614600-118618200	Weak transcription	HMEC	breast
35	chr5:118615000-118618200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:118615000-118619600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:118615000-118620800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:118615000-118622200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:118615000-118626200	Weak transcription	Spleen	Spleen
40	chr5:118615200-118619600	Weak transcription	Gastric	stomach
41	chr5:118615200-118621600	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr5:118615200-118622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:118616400-118618800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr5:118616600-118618400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:118616600-118618800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:118616600-118620000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr5:118616800-118624600	Enhancers	Fetal Heart	heart
48	chr5:118617000-118621000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr5:118617200-118618200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr5:118617400-118618400	Enhancers	Primary hematopoietic stem cells	blood

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