Variant report

Variant	rs1363847
Chromosome Location	chr5:40713666-40713667
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40527466..40528991-chr5:40713230..40715351,2	MCF-7	breast:
2	chr5:40678891..40680674-chr5:40712439..40714300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171522	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10035235	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10042459	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043839	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10053469	0.85[AFR][1000 genomes]
rs10053664	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10056173	0.82[AFR][1000 genomes]
rs10062565	0.83[JPT][hapmap]
rs10066459	1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs10069737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10074117	0.86[AFR][1000 genomes]
rs1015027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10473210	0.82[AFR][1000 genomes]
rs10473211	0.82[AFR][1000 genomes]
rs10473214	0.85[AFR][1000 genomes]
rs10941525	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11747210	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11949581	0.85[AFR][1000 genomes]
rs12517210	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12518018	0.90[ASN][1000 genomes]
rs12520058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12523329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17835256	0.86[ASN][1000 genomes]
rs2194204	0.95[ASN][1000 genomes]
rs2270625	0.83[JPT][hapmap]
rs2291782	0.83[JPT][hapmap]
rs3792827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3805489	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3805490	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3805492	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3805494	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3805498	0.90[ASN][1000 genomes]
rs3805499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3816959	0.83[JPT][hapmap]
rs4957334	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs4957338	0.85[AFR][1000 genomes]
rs4957343	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4957347	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56752286	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62356460	0.82[AFR][1000 genomes]
rs62356468	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62356508	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62358796	0.85[AFR][1000 genomes]
rs6868112	0.83[JPT][hapmap]
rs72747952	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72747958	0.95[ASN][1000 genomes]
rs7717814	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7719692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7721093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7725810	0.83[JPT][hapmap]
rs9292784	0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3432300	chr5:40698244-40726882	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1363847	RPL37	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40688800-40718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:40692400-40741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:40692800-40721000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:40692800-40733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:40692800-40735000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:40693600-40727400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:40694800-40721000	Weak transcription	Thymus	Thymus
8	chr5:40695200-40715800	Weak transcription	Primary B cells from cord blood	blood
9	chr5:40695200-40727000	Weak transcription	HSMM	muscle
10	chr5:40699000-40720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:40700800-40720600	Weak transcription	Left Ventricle	heart
12	chr5:40700800-40720800	Weak transcription	Spleen	Spleen
13	chr5:40700800-40722200	Weak transcription	Lung	lung
14	chr5:40701000-40720800	Weak transcription	Aorta	Aorta
15	chr5:40701000-40722200	Weak transcription	Esophagus	oesophagus
16	chr5:40702400-40715800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:40702800-40715200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:40704200-40714800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:40705600-40727000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:40706200-40715800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:40706400-40717600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:40706400-40717600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:40706400-40719800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:40706400-40720600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:40706400-40720800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:40706400-40721000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:40707000-40720600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:40707600-40720800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:40708400-40717600	Weak transcription	A549	lung
30	chr5:40709400-40721000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:40709600-40716200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:40709600-40716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:40709600-40745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:40710400-40721400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:40710600-40716200	Weak transcription	Fetal Lung	lung
36	chr5:40710600-40720800	Weak transcription	Fetal Thymus	thymus
37	chr5:40710800-40720800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:40711000-40716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:40711000-40719200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:40711000-40720600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:40711000-40720800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:40711200-40721000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:40711400-40716200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:40711600-40715200	Weak transcription	NHDF-Ad	bronchial
45	chr5:40711800-40717400	Weak transcription	Fetal Intestine Large	intestine
46	chr5:40711800-40720600	Weak transcription	Psoas Muscle	Psoas
47	chr5:40712000-40714000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:40712000-40715600	Weak transcription	Dnd41	blood
49	chr5:40712000-40715800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:40712200-40716200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links