Variant report

Variant	rs10735819
Chromosome Location	chr12:49626490-49626491
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49624204..49632381-chr12:49656851..49664182,36	K562	blood:
2	chr12:49504257..49506648-chr12:49625633..49628380,2	MCF-7	breast:
3	chr12:49454829..49457551-chr12:49626042..49628267,3	K562	blood:
4	chr12:49617947..49619571-chr12:49625520..49628045,3	K562	blood:
5	chr12:49617947..49619523-chr12:49625520..49627493,2	K562	blood:
6	chr12:49624371..49632888-chr12:49655742..49664182,29	K562	blood:
7	chr12:49609630..49611481-chr12:49625309..49626819,2	K562	blood:
8	chr12:49518847..49527600-chr12:49624546..49632235,69	K562	blood:
9	chr12:49626415..49629874-chr12:49642724..49645857,3	MCF-7	breast:
10	chr12:49626201..49630727-chr12:49631926..49634972,10	K562	blood:
11	chr12:49625768..49629972-chr12:49657225..49660229,8	MCF-7	breast:
12	chr12:49451583..49453949-chr12:49625558..49628294,2	K562	blood:
13	chr12:49218140..49220739-chr12:49625372..49627807,2	K562	blood:
14	chr12:49523889..49527940-chr12:49626125..49630578,10	MCF-7	breast:
15	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
16	chr12:49579518..49583719-chr12:49624804..49628256,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000167548	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10747564	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875938	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10875942	0.88[CHB][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs11168936	0.88[CHB][hapmap]
rs3847766	0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73306251	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10735819	LARP4	cis	parietal	SCAN
rs10735819	ATF1	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49619800-49627200	Weak transcription	Lung	lung
2	chr12:49622800-49627000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:49623000-49627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:49623400-49627000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:49624000-49626800	Enhancers	Fetal Muscle Leg	muscle
6	chr12:49624000-49628400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr12:49624600-49626600	Weak transcription	Right Atrium	heart
8	chr12:49624600-49626800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:49624800-49626600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:49624800-49627000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:49625400-49626800	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:49625400-49626800	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:49625600-49626600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:49625600-49626600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:49625600-49626600	Enhancers	Primary B cells from cord blood	blood
16	chr12:49625600-49626600	Enhancers	Brain Angular Gyrus	brain
17	chr12:49625600-49626600	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:49625600-49626600	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr12:49625600-49626600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:49625600-49626600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:49625600-49626600	Enhancers	Rectal Smooth Muscle	rectum
22	chr12:49625600-49626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:49625600-49626800	Enhancers	Fetal Stomach	stomach
24	chr12:49625600-49626800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:49625600-49627000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:49625600-49627600	Enhancers	Aorta	Aorta
27	chr12:49625600-49627800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:49625600-49627800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:49625600-49628000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:49625600-49628200	Flanking Active TSS	HSMMtube	muscle
31	chr12:49625600-49628400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:49625600-49628400	Enhancers	Placenta	Placenta
33	chr12:49625800-49626600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr12:49625800-49626600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:49625800-49626600	Enhancers	NHDF-Ad	bronchial
36	chr12:49625800-49626800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:49625800-49626800	Enhancers	Fetal Lung	lung
38	chr12:49625800-49626800	Flanking Active TSS	HepG2	liver
39	chr12:49625800-49627200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:49625800-49627400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:49625800-49628400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:49625800-49628400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:49625800-49628400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr12:49625800-49628400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:49625800-49628400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:49625800-49628400	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr12:49625800-49629400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:49626000-49626600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:49626000-49626800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr12:49626000-49626800	Enhancers	Skeletal Muscle Male	skeletal muscle

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