Variant report

Variant	rs17184211
Chromosome Location	chr5:7866106-7866107
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:7856634..7862841-chr5:7863423..7866521,7	MCF-7	breast:
2	chr5:7861150..7864391-chr5:7864437..7866400,3	K562	blood:
3	chr5:7857476..7859602-chr5:7864063..7866187,3	K562	blood:
4	chr5:7860007..7862983-chr5:7864596..7866833,2	K562	blood:
5	chr5:7850526..7853398-chr5:7865805..7867994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215217	Chromatin interaction
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11949523	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12108985	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13154459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13181011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13189728	0.90[EUR][1000 genomes]
rs13190084	0.90[EUR][1000 genomes]
rs17243407	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17267737	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2128266	0.88[EUR][1000 genomes]
rs34966478	0.88[EUR][1000 genomes]
rs62342527	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62342530	0.88[EUR][1000 genomes]
rs7716373	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9282787	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17184211	MTRR	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7851600-7866400	Weak transcription	Fetal Heart	heart
2	chr5:7851800-7868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:7852200-7867600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:7852200-7868400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:7852200-7868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:7852200-7868400	Weak transcription	Gastric	stomach
7	chr5:7852200-7868600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:7852400-7867800	Weak transcription	Fetal Brain Male	brain
9	chr5:7852800-7868400	Weak transcription	Pancreas	Pancrea
10	chr5:7854000-7868400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:7856000-7868400	Weak transcription	Stomach Mucosa	stomach
12	chr5:7856600-7867600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:7857600-7867800	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:7857800-7866200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr5:7857800-7866200	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr5:7857800-7866600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:7858000-7866600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:7858000-7867200	Strong transcription	HSMM	muscle
19	chr5:7858000-7867400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:7858200-7866600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:7858200-7867600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:7858400-7866200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:7858400-7868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:7858800-7868400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:7859000-7866200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:7859400-7866400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:7859600-7866200	Strong transcription	A549	lung
28	chr5:7859600-7866600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:7859600-7866800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:7859600-7867400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:7860400-7866600	Weak transcription	Spleen	Spleen
32	chr5:7860400-7868000	Weak transcription	Esophagus	oesophagus
33	chr5:7860400-7868400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:7861000-7866600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:7861400-7866200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:7862400-7867400	Weak transcription	Left Ventricle	heart
37	chr5:7862400-7867600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:7862400-7868000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:7862400-7868000	Weak transcription	Lung	lung
40	chr5:7862400-7868200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:7862600-7866200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:7862600-7866800	Weak transcription	Fetal Brain Female	brain
43	chr5:7862600-7867800	Weak transcription	Right Ventricle	heart
44	chr5:7862800-7866400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:7862800-7867400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:7862800-7867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:7862800-7867800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:7862800-7867800	Weak transcription	Fetal Stomach	stomach
49	chr5:7862800-7867800	Weak transcription	Thymus	Thymus
50	chr5:7862800-7868000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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