Variant report

Variant	rs10512819
Chromosome Location	chr5:43122987-43122988
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43121173..43123733-chr5:43225214..43227134,2	MCF-7	breast:
3	chr5:43121048..43123106-chr5:43555521..43557723,3	MCF-7	breast:
4	chr1:151254045..151255009-chr5:43122324..43123010,2	Hela-S3	cervix:
5	chr5:43007396..43009600-chr5:43120111..43123066,2	K562	blood:
6	chr1:155910327..155910982-chr5:43122324..43123012,2	Hela-S3	cervix:
7	chr5:43006330..43010322-chr5:43119527..43123237,8	MCF-7	breast:
8	chr5:43063463..43067998-chr5:43119333..43125586,12	K562	blood:
9	chr5:43064995..43071284-chr5:43119667..43123996,15	MCF-7	breast:
10	chr5:43120976..43123140-chr5:43225337..43226938,2	MCF-7	breast:
11	chr5:43062052..43069089-chr5:43119705..43123366,12	MCF-7	breast:
12	chr5:43063723..43068505-chr5:43119531..43125230,17	K562	blood:
13	chr5:43120765..43125898-chr5:43482451..43485837,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000271788	Chromatin interaction
ENSG00000249888	Chromatin interaction
ENSG00000172239	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10045186	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045460	0.94[EUR][1000 genomes]
rs10056788	0.88[EUR][1000 genomes]
rs10057386	0.86[AFR][1000 genomes]
rs10066481	0.88[EUR][1000 genomes]
rs10473304	0.88[EUR][1000 genomes]
rs10473305	0.88[EUR][1000 genomes]
rs12697443	0.85[AMR][1000 genomes]
rs13356344	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873170	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28394528	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28600138	0.94[EUR][1000 genomes]
rs28697178	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4421113	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55799546	0.87[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	0.97[AFR][1000 genomes];0.92[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	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751047	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701546	0.94[EUR][1000 genomes]
rs7709926	0.94[EUR][1000 genomes]
rs9292866	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43120200-43123000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:43120600-43123000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:43120600-43123000	Active TSS	A549	lung
4	chr5:43120600-43123200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr5:43120600-43123200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:43120600-43123200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:43120600-43123400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:43120600-43123400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:43120600-43123600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:43120800-43123000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:43120800-43123000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:43120800-43123000	Active TSS	Right Ventricle	heart
13	chr5:43120800-43123800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:43120800-43124000	Active TSS	Psoas Muscle	Psoas
15	chr5:43121000-43123400	Active TSS	GM12878-XiMat	blood
16	chr5:43121800-43123200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr5:43121800-43123400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr5:43122000-43123200	Active TSS	Right Atrium	heart
19	chr5:43122000-43123400	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr5:43122000-43123800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:43122200-43123000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:43122200-43123000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:43122200-43123200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:43122200-43123400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:43122200-43123800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:43122200-43123800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr5:43122400-43123000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr5:43122400-43123000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr5:43122400-43123000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr5:43122400-43123000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr5:43122400-43123000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr5:43122400-43123000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr5:43122400-43123000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr5:43122400-43123000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:43122400-43123000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr5:43122400-43123000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr5:43122400-43123000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr5:43122400-43123000	Flanking Active TSS	NHLF	lung
39	chr5:43122400-43123000	Flanking Active TSS	Osteobl	bone
40	chr5:43122400-43123200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:43122400-43123200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr5:43122400-43123200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr5:43122400-43123400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:43122400-43123400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:43122400-43123400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr5:43122400-43123400	Flanking Active TSS	Fetal Lung	lung
47	chr5:43122400-43123400	Flanking Active TSS	HMEC	breast
48	chr5:43122400-43123400	Flanking Active TSS	HUVEC	blood vessel
49	chr5:43122400-43123400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr5:43122400-43123600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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