Variant report

Variant	rs60264384
Chromosome Location	chr1:173748637-173748638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173746411..173749360-chr1:173790884..173793219,2	K562	blood:
2	chr1:173748318..173749966-chr1:173835406..173837305,2	MCF-7	breast:
3	chr1:173735243..173738226-chr1:173747475..173749570,2	K562	blood:
4	chr1:173737933..173739972-chr1:173748335..173750553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185278	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10912670	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912671	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12082131	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12086229	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12561931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564699	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12565915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566945	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1322774	0.93[ASN][1000 genomes]
rs16846439	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1951625	0.93[ASN][1000 genomes]
rs2067079	0.93[ASN][1000 genomes]
rs2144708	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2208850	0.93[ASN][1000 genomes]
rs2273366	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281486	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295366	0.93[ASN][1000 genomes]
rs28804123	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791020	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45467799	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4558043	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55633896	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55829688	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56019876	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56048122	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56138893	0.89[ASN][1000 genomes]
rs56369162	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56928371	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57799150	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58287165	0.88[ASN][1000 genomes]
rs58825445	0.94[ASN][1000 genomes]
rs59858609	0.88[ASN][1000 genomes]
rs61826805	0.89[ASN][1000 genomes]
rs61826806	0.89[ASN][1000 genomes]
rs61826809	0.89[ASN][1000 genomes]
rs61826810	0.89[ASN][1000 genomes]
rs61826812	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826813	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826821	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826856	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826857	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61827860	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827861	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827863	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827865	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827870	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827876	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827877	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61827881	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61827925	0.93[ASN][1000 genomes]
rs6413827	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425253	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6425258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425261	0.93[ASN][1000 genomes]
rs6668702	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6673175	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6674381	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6681766	0.89[ASN][1000 genomes]
rs6691001	0.94[ASN][1000 genomes]
rs6696680	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7514556	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7515721	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521884	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7530546	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7546048	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548171	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7552741	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425416	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425745	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425756	0.93[ASN][1000 genomes]
rs9660881	0.81[AMR][1000 genomes];0.93[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60264384	DARS2	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
4	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
5	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
6	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
12	chr1:173729600-173752200	Weak transcription	A549	lung
13	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:173731000-173749000	Weak transcription	GM12878-XiMat	blood
15	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
16	chr1:173736000-173751200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:173736600-173751200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:173736800-173760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:173737200-173750400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:173739400-173751400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:173741400-173757400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:173741800-173759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
25	chr1:173742800-173754400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:173742800-173759800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:173743000-173749800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:173743200-173755400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:173743200-173757200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:173743200-173758800	Strong transcription	Primary T cells from cord blood	blood
31	chr1:173743400-173749400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:173743400-173749600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:173743400-173752200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:173743400-173753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:173743400-173755600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:173743400-173757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:173743400-173757200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:173743400-173757400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:173743400-173757800	Strong transcription	Dnd41	blood
40	chr1:173743400-173758000	Strong transcription	Fetal Thymus	thymus
41	chr1:173743600-173755400	Strong transcription	Adipose Nuclei	Adipose
42	chr1:173744000-173751400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:173744400-173752400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:173744600-173750800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:173744800-173752200	Weak transcription	HMEC	breast
46	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:173745000-173748800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:173745000-173748800	Weak transcription	NH-A	brain
49	chr1:173745000-173749000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:173745000-173749000	Weak transcription	Pancreas	Pancrea

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