Variant report

Variant	rs2815375
Chromosome Location	chr1:67507734-67507735
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67506711..67508438-chr1:67517569..67520678,3	K562	blood:
2	chr1:67504793..67508211-chr1:67516570..67521149,6	K562	blood:
3	chr1:67507302..67509909-chr1:67517359..67519557,2	MCF-7	breast:
4	chr1:67504738..67509013-chr1:67518079..67520657,5	MCF-7	breast:
5	chr1:67389127..67391050-chr1:67506961..67509587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction
ENSG00000152763	Chromatin interaction
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1535365	0.82[ASN][1000 genomes]
rs2755251	0.82[ASN][1000 genomes]
rs2755253	0.80[ASN][1000 genomes]
rs2815360	0.82[ASN][1000 genomes]
rs2815362	0.82[ASN][1000 genomes]
rs2815363	0.82[ASN][1000 genomes]
rs2815364	0.82[ASN][1000 genomes]
rs2815365	0.82[ASN][1000 genomes]
rs2815366	0.82[ASN][1000 genomes]
rs2815367	0.82[ASN][1000 genomes]
rs2815368	0.82[ASN][1000 genomes]
rs2815369	0.81[EUR][1000 genomes]
rs2815374	0.84[ASN][1000 genomes]

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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2815375	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
2	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:67473800-67518000	Weak transcription	A549	lung
4	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
6	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:67486200-67516800	Weak transcription	NHEK	skin
9	chr1:67486800-67509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
11	chr1:67487800-67516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:67488400-67518000	Weak transcription	Right Ventricle	heart
13	chr1:67490800-67508800	Weak transcription	Pancreas	Pancrea
14	chr1:67495400-67517000	Weak transcription	Small Intestine	intestine
15	chr1:67500200-67517200	Strong transcription	HSMM	muscle
16	chr1:67500400-67516400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:67500800-67509000	Strong transcription	Liver	Liver
18	chr1:67500800-67515400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr1:67500800-67516000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:67500800-67516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:67500800-67516600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:67500800-67517000	Strong transcription	Adipose Nuclei	Adipose
23	chr1:67500800-67517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:67501000-67517400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:67501400-67516000	Strong transcription	Fetal Intestine Large	intestine
26	chr1:67501400-67516400	Strong transcription	NH-A	brain
27	chr1:67501600-67510000	Strong transcription	Brain Cingulate Gyrus	brain
28	chr1:67501600-67510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:67501800-67510400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:67501800-67516000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:67501800-67516000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:67501800-67517000	Strong transcription	Fetal Thymus	thymus
33	chr1:67501800-67517200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:67502200-67508800	Strong transcription	HepG2	liver
35	chr1:67502200-67515600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:67502200-67516200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:67502200-67516600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:67502400-67515000	Strong transcription	Primary T cells from cord blood	blood
39	chr1:67502400-67517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:67502800-67507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:67503000-67510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:67503000-67510600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:67503000-67510800	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:67503000-67510800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:67503000-67514800	Strong transcription	Placenta	Placenta
46	chr1:67503200-67510600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:67503200-67514000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:67503400-67508200	Strong transcription	Brain Hippocampus Middle	brain
49	chr1:67503400-67509800	Strong transcription	Primary B cells from cord blood	blood
50	chr1:67503400-67510000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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