Variant report

Variant	rs7514556
Chromosome Location	chr1:173691271-173691272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173686308..173688392-chr1:173689930..173692042,2	K562	blood:
2	chr1:173684004..173686293-chr1:173689052..173693084,4	MCF-7	breast:
3	chr1:173680351..173683002-chr1:173689911..173692365,2	K562	blood:
4	chr1:173680023..173685703-chr1:173685874..173692365,9	K562	blood:

Variant related genes	Relation type
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10798290	0.90[CHB][hapmap]
rs10912651	0.85[CHB][hapmap]
rs10912670	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10912671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039524	0.85[CHB][hapmap]
rs12082131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086229	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12561931	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12564699	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12565915	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12566945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1322774	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16846439	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1951625	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2067079	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2144708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2208850	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2227588	0.90[CHB][hapmap]
rs2227612	0.90[CHB][hapmap]
rs2273366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2281486	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2295366	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs28804123	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3791020	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs45467799	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4558043	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652283	0.90[CHB][hapmap]
rs4652298	0.90[CHB][hapmap]
rs4652328	0.90[CHB][hapmap]
rs55633896	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55829688	0.88[ASN][1000 genomes]
rs56019876	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56048122	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56138893	0.94[ASN][1000 genomes]
rs56369162	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56928371	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57799150	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58287165	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58825445	0.86[ASN][1000 genomes]
rs59858609	0.93[ASN][1000 genomes]
rs60264384	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61826805	0.94[ASN][1000 genomes]
rs61826806	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61826809	0.94[ASN][1000 genomes]
rs61826810	0.94[ASN][1000 genomes]
rs61826812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826813	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826821	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826856	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61826857	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827860	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827861	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61827863	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61827865	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827867	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61827870	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61827876	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827877	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61827881	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61827925	0.88[ASN][1000 genomes]
rs6413827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425251	0.90[CHB][hapmap]
rs6425253	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6425258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425261	0.88[ASN][1000 genomes]
rs6668702	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6673175	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6674381	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6681766	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6691001	0.88[ASN][1000 genomes]
rs6696680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7521884	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7530546	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7541082	0.90[CHB][hapmap]
rs7546048	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7548171	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7552741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425416	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425431	0.90[CHB][hapmap]
rs9425433	0.90[CHB][hapmap]
rs9425745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425756	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9660881	0.88[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	nsv1014827	chr1:173653453-173692470	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7514556	DARS2	cis	Muscle Skeletal	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
3	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
4	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
5	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
6	chr1:173685200-173692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:173685200-173692200	Weak transcription	Placenta	Placenta
8	chr1:173685200-173693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:173685200-173694000	Weak transcription	Left Ventricle	heart
10	chr1:173685200-173694200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:173685200-173694400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:173685200-173694400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
17	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:173685400-173691400	Weak transcription	Aorta	Aorta
19	chr1:173685400-173694000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:173685400-173694200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:173685400-173694400	Weak transcription	Fetal Brain Male	brain
24	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
25	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:173685600-173692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:173685600-173693800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:173685600-173694200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:173685600-173694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
31	chr1:173685800-173692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:173685800-173693600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:173685800-173702800	Weak transcription	NH-A	brain
34	chr1:173685800-173703000	Weak transcription	Osteobl	bone
35	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:173686000-173693800	Weak transcription	HMEC	breast
37	chr1:173686200-173691600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:173686200-173692000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:173686200-173692200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:173686200-173694400	Weak transcription	NHLF	lung
41	chr1:173686200-173702800	Weak transcription	NHEK	skin
42	chr1:173686400-173694200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:173686600-173691400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:173686600-173702800	Weak transcription	HSMMtube	muscle
45	chr1:173686800-173691600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:173686800-173693800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:173686800-173694200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:173686800-173694200	Weak transcription	NHDF-Ad	bronchial
49	chr1:173686800-173694400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:173686800-173694400	Weak transcription	Fetal Heart	heart

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