Variant report

Variant	rs7725810
Chromosome Location	chr5:40827307-40827308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40825699..40827775-chr5:40853184..40855555,2	MCF-7	breast:
2	chr5:40803716..40807696-chr5:40826215..40829999,3	MCF-7	breast:
3	chr5:40795414..40800612-chr5:40826901..40832318,11	MCF-7	breast:
4	chr5:40755072..40756868-chr5:40825798..40828092,2	MCF-7	breast:
5	chr5:40827186..40827925-chr6:160148431..160148964,2	NB4	blood:
6	chr5:40797697..40800949-chr5:40824816..40830013,8	MCF-7	breast:
7	chr5:40741850..40745005-chr5:40826482..40830579,3	K562	blood:
8	chr5:40816639..40819938-chr5:40825309..40828911,4	MCF-7	breast:
9	chr5:40753095..40762740-chr5:40824814..40831828,21	K562	blood:
10	chr5:40825327..40827684-chr5:40878879..40880894,2	K562	blood:
11	chr5:40715728..40718474-chr5:40825632..40827320,2	K562	blood:
12	chr5:40827297..40828028-chr9:140135669..140136274,2	Hela-S3	cervix:
13	chr5:40812798..40819830-chr5:40821906..40830676,11	MCF-7	breast:
14	chr5:40754490..40756519-chr5:40826244..40828552,3	MCF-7	breast:
15	chr5:40761191..40762740-chr5:40826660..40829600,2	K562	blood:
16	chr5:40773952..40776932-chr5:40826531..40828937,3	MCF-7	breast:
17	chr5:40752902..40758440-chr5:40826185..40833524,16	K562	blood:
18	chr5:40825063..40827594-chr5:40875913..40878688,2	K562	blood:
19	chr5:40789898..40792382-chr5:40827090..40829143,2	MCF-7	breast:
20	chr5:40765162..40773094-chr5:40824590..40832435,13	K562	blood:
21	chr5:40826490..40828948-chr5:40858944..40860973,4	K562	blood:
22	chr5:40826579..40827392-chr5:141229303..141230209,2	Hela-S3	cervix:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAA1-1	chr5:40825365-40829244	NONHSAT101154

No data

Variant related genes	Relation type
ENSG00000132356	Chromatin interaction
ENSG00000146457	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000113638	Chromatin interaction
ENSG00000212567	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10035235	0.90[JPT][hapmap]
rs10053664	0.90[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs10054398	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10062565	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[ASN][1000 genomes]
rs10066459	0.84[JPT][hapmap]
rs10069737	0.82[GIH][hapmap];0.84[JPT][hapmap]
rs1015027	0.82[GIH][hapmap];0.84[JPT][hapmap]
rs10941525	0.82[GIH][hapmap];0.84[JPT][hapmap]
rs11747210	0.87[ASW][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs12517210	0.87[ASW][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.83[YRI][hapmap]
rs12520058	0.84[JPT][hapmap]
rs12523329	0.84[JPT][hapmap]
rs1363847	0.83[JPT][hapmap]
rs2270625	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[ASN][1000 genomes]
rs2291782	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[ASN][1000 genomes]
rs3792827	0.83[JPT][hapmap]
rs3805489	0.89[JPT][hapmap]
rs3805490	0.90[JPT][hapmap]
rs3805492	0.90[JPT][hapmap]
rs3805494	0.90[JPT][hapmap]
rs3805499	0.84[JPT][hapmap]
rs3816959	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4957334	0.84[JPT][hapmap]
rs6868112	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884484	0.92[ASN][1000 genomes]
rs7719692	0.84[JPT][hapmap]
rs7721093	0.84[JPT][hapmap]
rs9800106	0.80[AFR][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	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
3	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases
4	nsv518711	chr5:40827307-40835627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	137 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7725810	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40820400-40827400	Weak transcription	Brain Substantia Nigra	brain
2	chr5:40821000-40827400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:40821400-40828800	Weak transcription	Gastric	stomach
4	chr5:40823600-40833200	Strong transcription	Thymus	Thymus
5	chr5:40824200-40830000	Weak transcription	Aorta	Aorta
6	chr5:40824200-40833000	Weak transcription	Fetal Heart	heart
7	chr5:40824200-40833000	Weak transcription	Psoas Muscle	Psoas
8	chr5:40824400-40828800	Strong transcription	A549	lung
9	chr5:40824800-40833000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:40824800-40833200	Strong transcription	Fetal Thymus	thymus
11	chr5:40824800-40833600	Strong transcription	Brain Germinal Matrix	brain
12	chr5:40825000-40832600	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:40825000-40832800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:40825200-40827400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:40825200-40827600	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:40825200-40830000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:40825200-40831400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:40825200-40832200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:40825200-40832200	Strong transcription	Liver	Liver
20	chr5:40825200-40832600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:40825200-40833200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:40825200-40833400	Strong transcription	Brain Anterior Caudate	brain
23	chr5:40825400-40827400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:40825400-40830400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:40825400-40830800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:40825400-40831400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:40825400-40831800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:40825400-40832000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:40825400-40833800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr5:40825600-40827800	Strong transcription	Right Ventricle	heart
31	chr5:40825600-40831200	Strong transcription	NHLF	lung
32	chr5:40825600-40831600	Strong transcription	HMEC	breast
33	chr5:40825600-40831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:40825600-40831800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr5:40825600-40831800	Strong transcription	NH-A	brain
36	chr5:40825600-40832000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:40825600-40832000	Strong transcription	Osteobl	bone
38	chr5:40825600-40832200	Strong transcription	HSMM	muscle
39	chr5:40825600-40832600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:40825600-40832600	Strong transcription	Fetal Stomach	stomach
41	chr5:40825600-40832600	Strong transcription	Spleen	Spleen
42	chr5:40825600-40832800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:40825600-40833000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr5:40825600-40833200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:40825600-40833200	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:40825600-40833200	Strong transcription	Left Ventricle	heart
47	chr5:40825600-40833400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:40825600-40833400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr5:40825800-40828800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:40825800-40830000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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