Variant report

Variant	rs58030712
Chromosome Location	chr1:174909585-174909586
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174908320..174910168-chr1:174924231..174926585,2	K562	blood:
2	chr1:174896436..174898470-chr1:174907347..174910296,2	K562	blood:
3	chr1:174909477..174911004-chr1:174913375..174915350,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1012182	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10798327	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10912843	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10912853	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912854	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10912855	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800350	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11806066	0.84[ASN][1000 genomes]
rs11809803	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11810508	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12063093	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12078839	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12094876	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231826	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1231827	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1231829	0.92[ASN][1000 genomes]
rs16847624	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17302033	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754350	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1754352	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1754353	0.90[ASN][1000 genomes]
rs1754354	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1793305	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1793313	0.85[ASN][1000 genomes]
rs1793316	0.90[ASN][1000 genomes]
rs1793318	0.90[ASN][1000 genomes]
rs1883139	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894198	0.92[ASN][1000 genomes]
rs1894199	0.95[ASN][1000 genomes]
rs1894201	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894680	0.90[ASN][1000 genomes]
rs2003378	0.95[ASN][1000 genomes]
rs2183202	0.90[ASN][1000 genomes]
rs2981892	0.92[ASN][1000 genomes]
rs2981893	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2981896	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987872	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987873	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987875	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987876	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2987880	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3118982	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3118986	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3118987	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3118990	0.85[ASN][1000 genomes]
rs464635	0.82[ASN][1000 genomes]
rs4651205	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4651231	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651235	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55793234	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57289077	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60482554	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425298	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425300	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425301	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6425303	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6425304	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6425306	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6671196	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671272	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6671782	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675528	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66836419	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684229	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684515	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686872	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6687616	0.95[ASN][1000 genomes]
rs6690754	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6693979	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6700953	0.92[ASN][1000 genomes]
rs67054007	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67133776	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67203477	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67903803	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717617	0.85[ASN][1000 genomes]
rs72717630	0.95[ASN][1000 genomes]
rs72717637	0.92[ASN][1000 genomes]
rs72717649	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72717650	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72717653	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717661	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717670	0.95[ASN][1000 genomes]
rs7514183	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7516410	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7547658	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs913686	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425787	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs989424	0.85[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	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs58030712	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs58030712	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs58030712	RP11-160H22.5	cis	Thyroid	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
4	chr1:174886400-174911600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:174897400-174910000	Weak transcription	Gastric	stomach
6	chr1:174898800-174910600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:174899800-174915200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:174900800-174911000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:174901000-174922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:174903800-174911000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:174905800-174910000	Weak transcription	Pancreas	Pancrea
12	chr1:174905800-174910600	Weak transcription	HepG2	liver
13	chr1:174905800-174911600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:174907200-174910400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:174907600-174910000	Weak transcription	K562	blood
16	chr1:174907600-174910200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:174907600-174910800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:174908000-174910000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:174908000-174910000	Weak transcription	Right Atrium	heart
20	chr1:174908000-174910600	Weak transcription	Brain Anterior Caudate	brain
21	chr1:174908000-174911200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:174908000-174911200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:174908000-174911200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:174908000-174911600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:174908000-174911800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:174908000-174911800	Weak transcription	Fetal Lung	lung
27	chr1:174908000-174914600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:174908000-174926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:174908200-174910000	Weak transcription	Fetal Intestine Large	intestine
31	chr1:174908200-174910000	Weak transcription	Fetal Intestine Small	intestine
32	chr1:174908200-174910000	Weak transcription	Stomach Mucosa	stomach
33	chr1:174908200-174910000	Weak transcription	HSMMtube	muscle
34	chr1:174908200-174910600	Weak transcription	Fetal Kidney	kidney
35	chr1:174908200-174911000	Weak transcription	Liver	Liver
36	chr1:174908200-174911200	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:174908200-174911600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:174908200-174911600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:174908200-174914000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:174908200-174914200	Weak transcription	Small Intestine	intestine
41	chr1:174908200-174914800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:174908200-174915200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:174908200-174924200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:174908400-174912600	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr1:174908600-174910400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:174908600-174910600	Weak transcription	Primary B cells from cord blood	blood
47	chr1:174908600-174911400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:174908600-174911400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:174908600-174911600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:174908600-174927400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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