Variant report

Variant	rs7727290
Chromosome Location	chr5:7909765-7909766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:7908992..7910576-chr5:7919203..7920908,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10063685	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10380	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10520874	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12347	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs161870	0.94[ASN][1000 genomes]
rs162034	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs162035	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs162036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs162039	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs162041	0.96[ASN][1000 genomes]
rs162131	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs16879305	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16879356	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs16879410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1994867	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2277958	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs227872	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2303081	0.96[ASN][1000 genomes]
rs2640666	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs326125	0.98[ASN][1000 genomes]
rs327581	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs327583	0.81[ASN][1000 genomes]
rs327586	1.00[ASN][1000 genomes]
rs327592	0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs3776454	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4702507	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs56153354	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56219526	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs57085915	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57652931	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57937475	0.94[ASN][1000 genomes]
rs72716547	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9332	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7727290	MTRR	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:7899600-7910000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:7899600-7912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:7900000-7914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:7902400-7910200	Weak transcription	Fetal Brain Male	brain
6	chr5:7902400-7910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:7902400-7911200	Weak transcription	Fetal Kidney	kidney
8	chr5:7902800-7911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:7903400-7911000	Weak transcription	Fetal Thymus	thymus
10	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:7903800-7913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:7904000-7911400	Weak transcription	Small Intestine	intestine
13	chr5:7904200-7909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:7904200-7910800	Weak transcription	Thymus	Thymus
15	chr5:7904200-7912000	Weak transcription	Pancreas	Pancrea
16	chr5:7904200-7912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:7904400-7909800	Weak transcription	Hela-S3	cervix
18	chr5:7904400-7911000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:7904400-7912400	Weak transcription	HMEC	breast
20	chr5:7904400-7915800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:7904800-7915400	Weak transcription	Osteobl	bone
22	chr5:7905000-7912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:7906200-7916400	Weak transcription	NHEK	skin
24	chr5:7907000-7910000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr5:7907000-7910000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr5:7907000-7911400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:7907200-7909800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:7907200-7909800	ZNF genes & repeats	Dnd41	blood
29	chr5:7907200-7910000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:7907200-7910200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:7907600-7909800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:7907800-7909800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr5:7907800-7909800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr5:7907800-7910200	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr5:7908000-7909800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:7908000-7909800	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr5:7908000-7910000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr5:7908600-7910000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:7908800-7909800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr5:7908800-7909800	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr5:7908800-7909800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr5:7908800-7909800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:7908800-7909800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr5:7908800-7915600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:7909000-7909800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr5:7909000-7909800	ZNF genes & repeats	Aorta	Aorta
47	chr5:7909000-7909800	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr5:7909000-7909800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr5:7909000-7909800	Strong transcription	Left Ventricle	heart
50	chr5:7909000-7909800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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