Variant report

Variant	rs2755247
Chromosome Location	chr1:67489867-67489868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67489684..67491408-chr1:67513710..67516514,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10789219	0.80[AMR][1000 genomes]
rs10889651	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1121824	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12742428	0.83[AMR][1000 genomes]
rs1535365	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2065002	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2755241	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2755242	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2755243	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2755251	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755254	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2755266	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2755270	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2755271	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2815349	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2815355	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2815360	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815362	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815363	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815364	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815365	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815366	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815367	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815368	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815374	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4486425	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4581250	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4582760	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4655662	0.80[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2755247	MIER1	Cis_1M	lymphoblastoid	RTeQTL
rs2755247	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 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	chr1:67481000-67490600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:67482600-67491000	Strong transcription	Primary T cells from cord blood	blood
20	chr1:67482600-67498800	Strong transcription	Fetal Intestine Large	intestine
21	chr1:67484000-67490800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:67484600-67490400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:67484800-67501800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:67485400-67490400	Weak transcription	Pancreas	Pancrea
26	chr1:67485400-67503600	Weak transcription	Ovary	ovary
27	chr1:67485400-67504000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:67485400-67505800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:67485600-67503000	Weak transcription	Placenta	Placenta
30	chr1:67485800-67490000	Weak transcription	HSMMtube	muscle
31	chr1:67485800-67490400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:67485800-67503000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:67485800-67504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:67485800-67506200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:67485800-67507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:67486000-67501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:67486200-67516800	Weak transcription	NHEK	skin
39	chr1:67486600-67494800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:67486600-67500400	Weak transcription	GM12878-XiMat	blood
41	chr1:67486600-67501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:67486600-67501800	Weak transcription	Fetal Kidney	kidney
43	chr1:67486600-67502000	Weak transcription	Brain Germinal Matrix	brain
44	chr1:67486800-67495000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:67486800-67495800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:67486800-67496400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:67486800-67501600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:67486800-67503200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:67486800-67503800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:67486800-67505400	Weak transcription	Left Ventricle	heart

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