Variant report

Variant	rs9292866
Chromosome Location	chr5:43138536-43138537
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43121051..43123193-chr5:43138308..43141555,3	MCF-7	breast:
2	chr5:43120921..43123504-chr5:43135583..43139387,3	K562	blood:
3	chr5:43116495..43119356-chr5:43137297..43139647,2	K562	blood:
4	chr5:43136449..43140275-chr5:43142558..43146191,4	K562	blood:
5	chr5:43121293..43123474-chr5:43137383..43139387,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10045186	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045460	0.94[EUR][1000 genomes]
rs10050482	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10056788	0.88[EUR][1000 genomes]
rs10057386	0.89[AFR][1000 genomes]
rs10066481	0.88[EUR][1000 genomes]
rs10473304	0.88[EUR][1000 genomes]
rs10473305	0.88[EUR][1000 genomes]
rs10512819	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12697443	0.92[AMR][1000 genomes]
rs13182652	0.81[AFR][1000 genomes]
rs13356344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873170	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28394528	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28600138	0.94[EUR][1000 genomes]
rs28697178	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4421113	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55799546	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58488720	0.88[EUR][1000 genomes]
rs6867229	0.82[EUR][1000 genomes]
rs6868632	0.88[EUR][1000 genomes]
rs6885598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887169	0.94[EUR][1000 genomes]
rs72752582	0.94[EUR][1000 genomes]
rs72752601	0.88[EUR][1000 genomes]
rs73751045	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751047	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701546	0.94[EUR][1000 genomes]
rs7709926	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122600-43141600	Weak transcription	Pancreas	Pancrea
2	chr5:43122600-43156200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:43122600-43163400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:43122800-43154600	Weak transcription	Aorta	Aorta
5	chr5:43122800-43156400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
7	chr5:43123800-43144800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:43124000-43142400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:43124000-43153000	Weak transcription	Psoas Muscle	Psoas
10	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
11	chr5:43124200-43145000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:43124200-43147200	Strong transcription	Fetal Thymus	thymus
13	chr5:43124400-43147400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:43124400-43154600	Weak transcription	Fetal Heart	heart
15	chr5:43124400-43154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:43124600-43138600	Strong transcription	Fetal Intestine Large	intestine
17	chr5:43126600-43154800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:43127600-43178000	Strong transcription	Dnd41	blood
19	chr5:43128000-43151400	Weak transcription	Right Ventricle	heart
20	chr5:43128000-43154600	Weak transcription	Brain Substantia Nigra	brain
21	chr5:43128200-43151000	Weak transcription	Ovary	ovary
22	chr5:43128200-43156000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:43128200-43161000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:43128400-43140000	Weak transcription	Brain Angular Gyrus	brain
25	chr5:43128400-43151600	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:43128400-43154600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:43128400-43161400	Weak transcription	HSMMtube	muscle
28	chr5:43128600-43140200	Weak transcription	Brain Anterior Caudate	brain
29	chr5:43128600-43154400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:43128600-43155400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:43129000-43161400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:43129600-43142800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:43129600-43142800	Weak transcription	NHLF	lung
34	chr5:43129800-43141600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:43130200-43140000	Weak transcription	Lung	lung
36	chr5:43130200-43156200	Weak transcription	Gastric	stomach
37	chr5:43131000-43159800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:43131200-43146400	Strong transcription	Hela-S3	cervix
39	chr5:43131400-43147000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr5:43131600-43140600	Strong transcription	A549	lung
41	chr5:43132800-43140000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:43133000-43152400	Weak transcription	Spleen	Spleen
43	chr5:43133000-43161400	Weak transcription	Esophagus	oesophagus
44	chr5:43133200-43151000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:43133200-43161400	Weak transcription	Fetal Brain Male	brain
46	chr5:43133400-43140200	Weak transcription	Left Ventricle	heart
47	chr5:43133600-43140000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:43133800-43140000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:43134000-43139200	Weak transcription	Adipose Nuclei	Adipose
50	chr5:43134000-43140000	Weak transcription	Rectal Mucosa Donor 29	rectum

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