Variant report

Variant	rs7317456
Chromosome Location	chr13:50261338-50261339
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50254223..50257561-chr13:50258855..50261948,4	K562	blood:
2	chr13:50260531..50263061-chr13:50365546..50368292,2	K562	blood:
3	chr13:50252667..50256255-chr13:50260389..50264756,4	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2897769	0.92[ASN][1000 genomes]
rs7337524	0.95[ASN][1000 genomes]
rs9568298	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9568308	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9568314	0.92[ASN][1000 genomes]
rs9568315	0.92[ASN][1000 genomes]
rs9596178	0.92[ASN][1000 genomes]
rs9596179	0.92[ASN][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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv541772	chr13:50218255-50264414	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7317456	EBPL	Cis_1M	lymphoblastoid	RTeQTL
rs7317456	EBPL	cis	Thyroid	GTEx
rs7317456	EBPL	cis	Nerve Tibial	GTEx
rs7317456	EBPL	cis	Artery Tibial	GTEx
rs7317456	EBPL	cis	Esophagus Muscularis	GTEx
rs7317456	EBPL	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50241000-50264800	Weak transcription	Aorta	Aorta
2	chr13:50242200-50261400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:50242200-50264200	Weak transcription	K562	blood
4	chr13:50242200-50264400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr13:50242200-50264400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:50242400-50261400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:50242400-50261400	Weak transcription	Gastric	stomach
8	chr13:50242400-50262200	Weak transcription	Spleen	Spleen
9	chr13:50242400-50263200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:50242400-50263800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:50242400-50264000	Weak transcription	Thymus	Thymus
12	chr13:50242400-50264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:50242400-50264400	Weak transcription	Adipose Nuclei	Adipose
14	chr13:50242400-50264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:50244400-50264400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:50245800-50261400	Weak transcription	HUVEC	blood vessel
17	chr13:50246000-50264600	Weak transcription	Left Ventricle	heart
18	chr13:50246200-50261400	Weak transcription	Hela-S3	cervix
19	chr13:50247000-50264400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr13:50248400-50263600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:50249400-50263600	Weak transcription	Primary B cells from cord blood	blood
22	chr13:50250400-50264400	Weak transcription	Primary T cells from cord blood	blood
23	chr13:50251400-50264400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr13:50251600-50264400	Weak transcription	HSMMtube	muscle
25	chr13:50251800-50262200	Weak transcription	Pancreas	Pancrea
26	chr13:50251800-50263600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:50253600-50264800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:50253800-50261400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:50253800-50264000	Weak transcription	Ovary	ovary
30	chr13:50253800-50264400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:50253800-50264400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:50254000-50264400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:50254400-50264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr13:50254400-50264400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:50254400-50264400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:50254400-50264600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:50254400-50264600	Weak transcription	Esophagus	oesophagus
38	chr13:50254600-50261400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:50254600-50264200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:50255200-50264400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr13:50255400-50261400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:50256000-50262000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:50256200-50264600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:50256400-50263800	Weak transcription	NH-A	brain
45	chr13:50256400-50263800	Weak transcription	NHLF	lung
46	chr13:50256400-50264400	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:50256400-50264400	Weak transcription	Colonic Mucosa	Colon
48	chr13:50256400-50264400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr13:50256400-50264400	Weak transcription	NHDF-Ad	bronchial
50	chr13:50256600-50261400	Weak transcription	Fetal Lung	lung

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