Variant report

Variant	rs2815357
Chromosome Location	chr1:67491854-67491855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67490401..67492235-chr1:67492824..67494840,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1118393	0.85[EUR][1000 genomes]
rs11208976	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11208978	0.89[ASN][1000 genomes]
rs11208979	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11208985	0.96[ASN][1000 genomes]
rs1137656	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12039172	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041926	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12044278	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044492	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12131222	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12132068	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12132532	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12137403	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143044	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12740884	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17497828	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17497947	0.93[ASN][1000 genomes]
rs1886686	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1925408	0.85[EUR][1000 genomes]
rs1925411	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1925412	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1925413	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009311	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009319	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025608	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2031495	0.83[ASN][1000 genomes]
rs2065000	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065001	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182143	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755240	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755244	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755246	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755249	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2755250	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755253	0.87[EUR][1000 genomes]
rs2815348	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815350	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2815351	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815352	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815353	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815354	1.00[ASN][1000 genomes]
rs2815359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815369	1.00[ASN][1000 genomes]
rs2815370	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815371	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815373	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2985794	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985795	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985797	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2985808	0.84[EUR][1000 genomes]
rs2985810	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985811	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2985816	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985817	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985818	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985821	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985822	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985824	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985825	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985826	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985830	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008848	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008852	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008853	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008854	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008855	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008856	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008858	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3008859	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3008860	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008861	0.83[ASN][1000 genomes]
rs3008865	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008870	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008871	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3008873	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008874	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3008875	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3008888	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008892	0.83[ASN][1000 genomes]
rs3008894	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34367328	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35365746	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4388680	0.86[EUR][1000 genomes]
rs4620509	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4655658	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4655659	0.81[EUR][1000 genomes]
rs4655663	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58680688	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6673462	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72673725	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7511948	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs912797	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs975451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975452	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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
rs2815357	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
3	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
4	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
5	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:67465200-67502400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:67468600-67501800	Weak transcription	Psoas Muscle	Psoas
9	chr1:67470800-67505400	Weak transcription	Gastric	stomach
10	chr1:67471800-67503800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:67472400-67502400	Weak transcription	Fetal Brain Male	brain
12	chr1:67473800-67518000	Weak transcription	A549	lung
13	chr1:67474600-67500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:67476000-67504600	Weak transcription	Lung	lung
15	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
17	chr1:67479800-67503200	Weak transcription	K562	blood
18	chr1:67482600-67498800	Strong transcription	Fetal Intestine Large	intestine
19	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:67484800-67501800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:67485400-67503600	Weak transcription	Ovary	ovary
22	chr1:67485400-67504000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:67485400-67505800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:67485600-67503000	Weak transcription	Placenta	Placenta
25	chr1:67485800-67503000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:67485800-67504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:67485800-67506200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:67485800-67507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:67486000-67501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:67486200-67516800	Weak transcription	NHEK	skin
32	chr1:67486600-67494800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:67486600-67500400	Weak transcription	GM12878-XiMat	blood
34	chr1:67486600-67501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:67486600-67501800	Weak transcription	Fetal Kidney	kidney
36	chr1:67486600-67502000	Weak transcription	Brain Germinal Matrix	brain
37	chr1:67486800-67495000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:67486800-67495800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:67486800-67496400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:67486800-67501600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:67486800-67503200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:67486800-67503800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:67486800-67505400	Weak transcription	Left Ventricle	heart
44	chr1:67486800-67509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
46	chr1:67487000-67494000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:67487000-67494800	Weak transcription	NHDF-Ad	bronchial
48	chr1:67487000-67501600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:67487000-67503000	Weak transcription	NHLF	lung
50	chr1:67487000-67503400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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