Variant report

Variant	rs73248988
Chromosome Location	chr5:118620623-118620624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118620088..118622427-chr5:118650333..118654456,3	K562	blood:
2	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
3	chr5:118620088..118622247-chr5:118651505..118654456,2	K562	blood:

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]
rs73248974	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]
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:74 , 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	chr5:118610600-118622600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:118611200-118621000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:118611200-118623200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:118611200-118625200	Weak transcription	Right Atrium	heart
7	chr5:118611400-118621000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:118611400-118622600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:118611600-118621000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:118611800-118623200	Weak transcription	HUVEC	blood vessel
11	chr5:118612000-118622400	Weak transcription	Lung	lung
12	chr5:118612000-118625200	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:118612600-118620800	Weak transcription	Stomach Mucosa	stomach
14	chr5:118613200-118623400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:118613800-118626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:118614000-118623400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:118614400-118620800	Weak transcription	Small Intestine	intestine
18	chr5:118614400-118623200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:118615000-118620800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:118615000-118622200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:118615000-118626200	Weak transcription	Spleen	Spleen
22	chr5:118615200-118621600	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr5:118615200-118622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:118616800-118624600	Enhancers	Fetal Heart	heart
25	chr5:118617000-118621000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:118617600-118622400	Enhancers	GM12878-XiMat	blood
27	chr5:118617600-118622600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:118617800-118621000	Enhancers	K562	blood
29	chr5:118618000-118621200	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr5:118618000-118622000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:118618000-118622600	Weak transcription	Fetal Lung	lung
32	chr5:118618400-118620800	Weak transcription	Adipose Nuclei	Adipose
33	chr5:118618400-118622400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:118618400-118627800	Weak transcription	Right Ventricle	heart
35	chr5:118618600-118620800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:118618600-118620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:118618600-118622200	Weak transcription	Left Ventricle	heart
38	chr5:118618600-118622600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118618800-118621000	Weak transcription	NHEK	skin
40	chr5:118618800-118622400	Weak transcription	Pancreas	Pancrea
41	chr5:118618800-118622600	Weak transcription	HMEC	breast
42	chr5:118618800-118623800	Weak transcription	Fetal Kidney	kidney
43	chr5:118619000-118620800	Weak transcription	Hela-S3	cervix
44	chr5:118619200-118623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:118619400-118621000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:118619400-118622600	Enhancers	Primary B cells from cord blood	blood
47	chr5:118619400-118622600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:118619400-118622600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:118619400-118622600	Weak transcription	Fetal Stomach	stomach
50	chr5:118619400-118628600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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