Variant report

Variant	rs2122095
Chromosome Location	chr2:114498915-114498916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114493417..114494918-chr2:114496528..114498970,2	MCF-7	breast:
2	chr2:114495189..114499777-chr2:114499993..114505139,6	K562	blood:
3	chr2:114492884..114495202-chr2:114498895..114501885,3	K562	blood:
4	chr2:114498216..114500106-chr2:114512669..114514374,2	MCF-7	breast:
5	chr2:114496602..114499777-chr2:114502091..114505139,3	K562	blood:
6	chr2:114490228..114492803-chr2:114497199..114499336,2	K562	blood:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10168234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199704	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200355	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10205467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682259	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11897553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11901060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12711784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12711786	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13004622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006627	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13029093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13397540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13405475	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13416930	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1349157	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1584434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17048473	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2418915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2418916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs35432356	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35667749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849264	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4849265	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4849266	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4849269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849274	0.82[JPT][hapmap]
rs56213422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58473055	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542171	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6704673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6709158	0.83[CHB][hapmap]
rs6726001	0.83[CHB][hapmap]
rs6731402	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6739072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741521	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67850681	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561176	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7578249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586800	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7587218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590375	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7592689	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7600550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs935644	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9798411	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2122095	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs2122095	RPL23AP7	cis	Whole Blood	GTEx
rs2122095	PS1TP4	Cis_1M	lymphoblastoid	RTeQTL
rs2122095	DDX11L2	cis	Whole Blood	GTEx
rs2122095	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs2122095	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2122095	SLC35F5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114458400-114500000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
4	chr2:114461600-114499800	Weak transcription	Hela-S3	cervix
5	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
6	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:114470000-114500200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:114470400-114510800	Strong transcription	HSMM	muscle
11	chr2:114471000-114500200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:114474400-114507600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:114476000-114506600	Weak transcription	Thymus	Thymus
14	chr2:114478800-114504400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:114478800-114507600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:114478800-114510600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:114479200-114510400	Strong transcription	Liver	Liver
18	chr2:114479800-114507000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:114480000-114504000	Strong transcription	Primary B cells from cord blood	blood
20	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:114483000-114506600	Weak transcription	Psoas Muscle	Psoas
22	chr2:114484000-114511200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:114484400-114510600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
25	chr2:114485200-114503600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:114485200-114506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:114485200-114511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:114485400-114500000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr2:114486200-114503600	Weak transcription	Lung	lung
30	chr2:114487200-114500000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:114492000-114502600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:114492400-114499000	Strong transcription	Fetal Lung	lung
36	chr2:114492800-114504400	Strong transcription	NH-A	brain
37	chr2:114493800-114504000	Strong transcription	Left Ventricle	heart
38	chr2:114494200-114510400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:114494200-114510600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:114494200-114511000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:114494400-114501600	Strong transcription	A549	lung
42	chr2:114494400-114502200	Strong transcription	Dnd41	blood
43	chr2:114494400-114502400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:114494400-114502600	Strong transcription	Fetal Kidney	kidney
45	chr2:114494400-114509400	Strong transcription	Adipose Nuclei	Adipose
46	chr2:114494400-114511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:114494400-114511600	Strong transcription	Osteobl	bone
48	chr2:114494600-114499400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:114494600-114503600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:114494600-114504000	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links