Variant report

Variant	rs73751078
Chromosome Location	chr5:43368544-43368545
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	chr5:43368436..43370174-chr5:43372547..43374154,2	K562	blood:
2	chr5:43368436..43370537-chr5:43372560..43374154,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10037409	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10038859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10040897	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10043148	1.00[EUR][1000 genomes]
rs10052384	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10054415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10056437	1.00[EUR][1000 genomes]
rs10062031	1.00[EUR][1000 genomes]
rs10062121	1.00[EUR][1000 genomes]
rs10062598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10064967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067763	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10077324	0.86[EUR][1000 genomes]
rs10079530	0.86[EUR][1000 genomes]
rs10472379	0.86[EUR][1000 genomes]
rs10473306	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10473308	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955467	0.86[EUR][1000 genomes]
rs1478436	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16874093	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16874094	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28450849	1.00[EUR][1000 genomes]
rs28608156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28688522	0.85[AMR][1000 genomes]
rs28856961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4326149	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55645370	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60520238	0.86[EUR][1000 genomes]
rs6865440	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6884349	0.86[EUR][1000 genomes]
rs6892413	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6893898	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6894240	0.82[AFR][1000 genomes]
rs7356654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7356727	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73751075	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73751082	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751083	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7710717	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7715267	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7729140	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7729145	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7733732	0.86[EUR][1000 genomes]
rs9292869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9292870	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9292872	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9292875	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43366600-43372400	Enhancers	Fetal Intestine Large	intestine
2	chr5:43366600-43372400	Enhancers	Fetal Intestine Small	intestine
3	chr5:43367000-43369200	Enhancers	Duodenum Mucosa	Duodenum
4	chr5:43367200-43386400	Weak transcription	Pancreas	Pancrea
5	chr5:43367400-43376600	Weak transcription	Colonic Mucosa	Colon
6	chr5:43367600-43369000	Enhancers	K562	blood
7	chr5:43367600-43376000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:43367800-43368800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:43367800-43369200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:43367800-43370400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:43368000-43369000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:43368000-43369000	Enhancers	HMEC	breast
13	chr5:43368200-43368800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:43368200-43376400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:43368400-43368600	Enhancers	Stomach Mucosa	stomach
16	chr5:43368400-43369000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:43368400-43369200	Enhancers	Osteobl	bone
18	chr5:43368400-43381600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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