Variant report

Variant	rs11951414
Chromosome Location	chr5:68431872-68431873
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	chr5:68431059..68433417-chr5:68453828..68456749,2	K562	blood:

Variant related genes	Relation type
ENSG00000265968	Chromatin interaction
ENSG00000220986	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11748498	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11949064	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952426	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11952883	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956532	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976101	0.81[GIH][hapmap];0.95[JPT][hapmap]
rs3103617	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34981578	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs350092	0.95[JPT][hapmap]
rs668139	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11951414	SLC9A8	trans	cerebellum	SCAN
rs11951414	MRPS36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68406200-68438400	Weak transcription	Aorta	Aorta
2	chr5:68412400-68434600	Weak transcription	Psoas Muscle	Psoas
3	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:68420600-68434800	Weak transcription	Fetal Brain Male	brain
5	chr5:68421400-68433400	Weak transcription	Left Ventricle	heart
6	chr5:68421600-68447000	Weak transcription	Ovary	ovary
7	chr5:68423600-68432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:68423800-68432200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:68424000-68432200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:68424000-68434000	Weak transcription	Brain Germinal Matrix	brain
11	chr5:68424400-68433200	Weak transcription	Right Ventricle	heart
12	chr5:68425000-68433200	Weak transcription	Thymus	Thymus
13	chr5:68425400-68434400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:68425600-68432000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:68425600-68432000	Weak transcription	K562	blood
16	chr5:68425600-68432000	Weak transcription	NHEK	skin
17	chr5:68425600-68432200	Weak transcription	Fetal Thymus	thymus
18	chr5:68425600-68433200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:68425800-68432000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:68425800-68432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:68425800-68432200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:68425800-68432200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:68426400-68433400	Weak transcription	NH-A	brain
24	chr5:68426400-68434600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:68426400-68437800	Weak transcription	Hela-S3	cervix
26	chr5:68427400-68432000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:68427400-68433800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:68427600-68432200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:68428400-68432000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:68428400-68432400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:68428800-68432000	Weak transcription	Fetal Intestine Small	intestine
32	chr5:68429000-68432400	Enhancers	Adipose Nuclei	Adipose
33	chr5:68429800-68432000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:68429800-68433200	Weak transcription	Brain Anterior Caudate	brain
35	chr5:68429800-68433400	Weak transcription	Fetal Brain Female	brain
36	chr5:68430000-68432000	Weak transcription	Osteobl	bone
37	chr5:68430000-68432400	Weak transcription	Primary B cells from cord blood	blood
38	chr5:68430000-68432600	Weak transcription	Liver	Liver
39	chr5:68430400-68432000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:68430400-68432000	Weak transcription	HSMM	muscle
41	chr5:68430400-68432200	Weak transcription	Fetal Intestine Large	intestine
42	chr5:68430400-68432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:68430400-68434400	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:68430600-68432400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:68430600-68432600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:68430600-68432800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:68430600-68432800	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:68430600-68433600	Weak transcription	Primary T cells from cord blood	blood
49	chr5:68430800-68432800	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:68431200-68432400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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