Variant report

Variant	rs4607392
Chromosome Location	chr5:40673515-40673516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40673402..40675876-chr5:40676322..40679263,4	K562	blood:
2	chr5:40667749..40669550-chr5:40672686..40674333,2	MCF-7	breast:
3	chr5:40671388..40674176-chr5:40680910..40682614,2	MCF-7	breast:
4	chr5:40671624..40675348-chr5:40676971..40680818,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10060234	0.85[CEU][hapmap]
rs171605	0.85[CEU][hapmap]
rs249414	0.88[CEU][hapmap]
rs249422	0.85[CEU][hapmap]
rs249425	0.85[CEU][hapmap]
rs2888173	0.83[EUR][1000 genomes]
rs29742	0.84[CEU][hapmap]
rs29743	0.88[CEU][hapmap]
rs29744	0.85[CEU][hapmap]
rs4133101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4314453	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs434778	0.88[CEU][hapmap]
rs4383756	0.88[CEU][hapmap]
rs4412150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4434423	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs447810	0.85[CEU][hapmap]
rs4546432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6451535	0.88[CEU][hapmap]
rs7726237	0.88[CEU][hapmap]
rs7730020	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
2	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
rs4607392	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs4607392	TTC33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40667600-40676000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:40668200-40675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:40668600-40677600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:40668800-40673800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:40668800-40677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:40669000-40674000	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:40669800-40676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:40670000-40674400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:40670600-40674600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:40670800-40674000	Weak transcription	Stomach Mucosa	stomach
12	chr5:40670800-40675800	Enhancers	Primary T cells from cord blood	blood
13	chr5:40671000-40674800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:40671400-40674800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:40671400-40676000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:40672000-40673800	Enhancers	Fetal Thymus	thymus
17	chr5:40672000-40678400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:40672400-40674000	Enhancers	Thymus	Thymus
19	chr5:40672400-40677000	Weak transcription	HSMMtube	muscle
20	chr5:40672600-40675600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:40672600-40676200	Enhancers	Dnd41	blood
22	chr5:40672600-40676800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:40672600-40678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:40672800-40673600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:40672800-40673600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:40672800-40673600	Enhancers	Hela-S3	cervix
27	chr5:40672800-40678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr5:40673000-40673600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:40673000-40675800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:40673000-40676600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:40673200-40673800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr5:40673200-40677200	Weak transcription	Primary B cells from cord blood	blood
33	chr5:40673400-40674600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:40673400-40676000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:40673400-40676600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:40673400-40678600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:40673400-40678600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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