Variant report

Variant	rs4434423
Chromosome Location	chr5:40677682-40677683
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:40677096-40677821	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr5:40677169-40677859	HUVEC	blood vessel:	n/a	n/a
3	STAT3	chr5:40677211-40679447	MCF10A-Er-Src	breast:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40678827-40678838 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40677774-40677782 chr5:40678832-40678840 chr5:40678844-40678852
4	SMC3	chr5:40677166-40677732	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:40673402..40675876-chr5:40676322..40679263,4	K562	blood:
2	chr5:40505949..40508818-chr5:40677222..40679235,2	MCF-7	breast:
3	chr5:40677072..40679518-chr5:40680792..40683406,4	MCF-7	breast:
4	chr5:40676137..40677874-chr5:40679595..40681431,2	K562	blood:

Variant related genes	Relation type
PTGER4	TF binding region
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10060234	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs11739531	0.81[AFR][1000 genomes]
rs171605	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs249414	0.84[CEU][hapmap]
rs249422	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs249425	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs2888173	0.88[AFR][1000 genomes]
rs29742	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs29743	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs29744	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs4133101	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4314453	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs434778	0.84[CEU][hapmap];0.85[YRI][hapmap]
rs4383756	0.84[CEU][hapmap]
rs4412150	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447810	0.82[CEU][hapmap]
rs4546432	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4607392	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]
rs6451533	0.83[AFR][1000 genomes]
rs6451535	0.84[CEU][hapmap]
rs7716982	0.83[AFR][1000 genomes]
rs7726237	0.84[CEU][hapmap]

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
rs4434423	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs4434423	TTC33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40668800-40678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:40672000-40678400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:40672600-40678600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:40672800-40678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr5:40673400-40678600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:40673400-40678600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr5:40674600-40678200	Enhancers	HMEC	breast
8	chr5:40674600-40678600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:40674800-40678400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:40674800-40678400	Enhancers	Fetal Thymus	thymus
11	chr5:40675200-40678800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:40675600-40678200	Enhancers	Thymus	Thymus
13	chr5:40675800-40678400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:40675800-40679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:40676000-40678200	Enhancers	Fetal Intestine Small	intestine
16	chr5:40676000-40678800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:40676000-40679000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:40676000-40679000	Weak transcription	Esophagus	oesophagus
19	chr5:40676200-40677800	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:40676200-40678200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:40676200-40678600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:40676400-40678800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:40676600-40678600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:40676800-40677800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:40676800-40677800	Enhancers	Stomach Mucosa	stomach
26	chr5:40676800-40678000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:40676800-40678000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr5:40676800-40678000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:40676800-40678200	Flanking Active TSS	Dnd41	blood
30	chr5:40676800-40678200	Enhancers	NHDF-Ad	bronchial
31	chr5:40676800-40678400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr5:40676800-40678600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:40676800-40679200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:40676800-40679200	Flanking Active TSS	HUVEC	blood vessel
35	chr5:40677000-40677800	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:40677000-40678000	Flanking Active TSS	Osteobl	bone
37	chr5:40677000-40678400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:40677000-40679000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:40677000-40679000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr5:40677200-40677800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:40677200-40678000	Enhancers	Primary T cells from cord blood	blood
42	chr5:40677200-40678000	Flanking Active TSS	A549	lung
43	chr5:40677200-40678000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:40677200-40678200	Weak transcription	NHLF	lung
45	chr5:40677200-40678600	Flanking Active TSS	NHEK	skin
46	chr5:40677400-40677800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:40677400-40677800	Weak transcription	Primary B cells from cord blood	blood
48	chr5:40677400-40677800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr5:40677400-40677800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr5:40677400-40678200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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