Variant report

Variant	rs11148160
Chromosome Location	chr13:50307716-50307717
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	chr13:50264137..50266449-chr13:50305520..50308098,2	K562	blood:
2	chr13:50306515..50309235-chr13:50364713..50367239,2	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction
ENSG00000123179	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11148161	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12584560	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12585586	0.86[EUR][1000 genomes]
rs12864534	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12875005	0.84[EUR][1000 genomes]
rs12876889	0.85[EUR][1000 genomes]
rs12877931	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1581744	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2025264	0.81[EUR][1000 genomes]
rs34423763	0.85[EUR][1000 genomes]
rs35331571	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7446	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7987502	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7997798	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526592	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526600	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9535301	0.86[ASN][1000 genomes]
rs9535302	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535315	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9535332	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9535333	0.80[EUR][1000 genomes]
rs9535337	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9568309	0.86[ASN][1000 genomes]
rs9646001	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers 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
rs11148160	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs11148160	KPNA3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50307800	Weak transcription	Gastric	stomach
2	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
4	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
5	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
7	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:50290000-50324000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:50290000-50334000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:50290200-50316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:50293200-50326000	Weak transcription	Fetal Brain Male	brain
12	chr13:50294200-50315000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:50294200-50324000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr13:50294400-50333000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:50294800-50314200	Weak transcription	Stomach Mucosa	stomach
16	chr13:50296200-50330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:50296400-50320200	Weak transcription	Spleen	Spleen
18	chr13:50296600-50307800	Weak transcription	Brain Substantia Nigra	brain
19	chr13:50296600-50307800	Weak transcription	Lung	lung
20	chr13:50296600-50309000	Weak transcription	Brain Angular Gyrus	brain
21	chr13:50296600-50330400	Weak transcription	Small Intestine	intestine
22	chr13:50296600-50338600	Weak transcription	Ovary	ovary
23	chr13:50296800-50315000	Weak transcription	HMEC	breast
24	chr13:50297000-50322400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:50298000-50327600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:50299000-50314400	Weak transcription	Fetal Brain Female	brain
27	chr13:50299200-50307800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:50299200-50327600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr13:50299400-50307800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:50299400-50319400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:50300600-50345600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:50300800-50307800	Weak transcription	Fetal Kidney	kidney
33	chr13:50300800-50321800	Weak transcription	Brain Anterior Caudate	brain
34	chr13:50301000-50319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:50301200-50308400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:50301200-50316000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr13:50301200-50323600	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:50301200-50327800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr13:50301400-50307800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:50301400-50313600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:50301800-50308000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:50302200-50307800	Strong transcription	Dnd41	blood
43	chr13:50302800-50333800	Weak transcription	Thymus	Thymus
44	chr13:50303000-50307800	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:50303200-50319400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr13:50303200-50334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:50304000-50308000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr13:50304400-50316000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:50304400-50321400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr13:50304600-50316000	Weak transcription	Fetal Muscle Trunk	muscle

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