Variant report

Variant	rs13354346
Chromosome Location	chr5:40684676-40684677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40674492..40676640-chr5:40683671..40686128,2	MCF-7	breast:
2	chr5:40683649..40685431-chr5:40686682..40688286,2	K562	blood:
3	chr5:40677704..40682849-chr5:40683671..40689280,11	MCF-7	breast:
4	chr5:40372403..40374012-chr5:40684266..40686880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10056345	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10060234	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10064175	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13355305	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1644962	0.87[AMR][1000 genomes]
rs2008763	0.83[ASN][1000 genomes]
rs249413	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs249414	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs249416	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28569300	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4277957	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4285273	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4315964	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4315965	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs434778	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4383756	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs447810	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4573034	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4957344	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59069340	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59920139	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6451535	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6451537	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6871999	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6896993	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7708680	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7711806	0.81[ASN][1000 genomes]
rs7726237	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7733162	0.81[AMR][1000 genomes]
rs7737044	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13354346	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs13354346	TTC33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40678600-40685800	Active TSS	Right Atrium	heart
2	chr5:40679000-40685600	Active TSS	Colon Smooth Muscle	Colon
3	chr5:40679000-40689400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:40679200-40684800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:40679200-40685000	Active TSS	NHLF	lung
6	chr5:40680000-40685000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:40680200-40689600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr5:40680800-40685200	Weak transcription	A549	lung
9	chr5:40680800-40690800	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr5:40681600-40685200	Active TSS	Fetal Thymus	thymus
11	chr5:40681800-40685800	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr5:40682000-40685200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr5:40682000-40685600	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:40682000-40685800	Active TSS	Colonic Mucosa	Colon
15	chr5:40682000-40687200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr5:40682200-40685400	Active TSS	Duodenum Mucosa	Duodenum
17	chr5:40682200-40686400	Active TSS	Rectal Smooth Muscle	rectum
18	chr5:40682400-40684800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:40682400-40685200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:40682400-40685400	Active TSS	Fetal Muscle Leg	muscle
21	chr5:40682400-40685800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr5:40682400-40691400	Weak transcription	Spleen	Spleen
23	chr5:40682600-40685200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:40682800-40685400	Flanking Active TSS	NHEK	skin
25	chr5:40682800-40685800	Active TSS	Psoas Muscle	Psoas
26	chr5:40682800-40688800	Active TSS	Thymus	Thymus
27	chr5:40682800-40691400	Weak transcription	Lung	lung
28	chr5:40683000-40685200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:40683000-40685400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr5:40683000-40688600	Weak transcription	NHDF-Ad	bronchial
31	chr5:40683000-40688800	Enhancers	Primary B cells from peripheral blood	blood
32	chr5:40683000-40691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:40683000-40691600	Weak transcription	Esophagus	oesophagus
34	chr5:40683000-40692000	Weak transcription	Gastric	stomach
35	chr5:40683200-40684800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr5:40683400-40686000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
37	chr5:40683400-40688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:40683600-40688800	Enhancers	Fetal Lung	lung
39	chr5:40683800-40685400	Weak transcription	Hela-S3	cervix
40	chr5:40683800-40687400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr5:40683800-40687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:40683800-40690200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:40683800-40691600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:40684000-40684800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:40684000-40685000	Active TSS	HSMM	muscle
46	chr5:40684000-40685200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr5:40684000-40685400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:40684000-40685800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:40684000-40685800	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:40684000-40685800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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