Variant report

Variant	rs2815373
Chromosome Location	chr1:67505780-67505781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67504793..67508211-chr1:67516570..67521149,6	K562	blood:
2	chr1:67385327..67388250-chr1:67504419..67506337,2	MCF-7	breast:
3	chr1:67504738..67509013-chr1:67518079..67520657,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116704	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

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

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
2	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
3	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:67465200-67506400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:67473800-67518000	Weak transcription	A549	lung
6	chr1:67476000-67508400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:67478000-67508800	Weak transcription	Colonic Mucosa	Colon
8	chr1:67484000-67518400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:67485400-67505800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:67485800-67506200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:67485800-67507600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:67486000-67509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:67486200-67516800	Weak transcription	NHEK	skin
14	chr1:67486800-67509200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:67486800-67515800	Weak transcription	Stomach Mucosa	stomach
16	chr1:67487200-67505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:67487800-67505800	Weak transcription	Aorta	Aorta
18	chr1:67487800-67516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:67488400-67506000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:67488400-67506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:67488400-67518000	Weak transcription	Right Ventricle	heart
22	chr1:67490800-67506000	Weak transcription	HSMMtube	muscle
23	chr1:67490800-67508800	Weak transcription	Pancreas	Pancrea
24	chr1:67493800-67506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:67495000-67506600	Weak transcription	HMEC	breast
26	chr1:67495400-67507200	Weak transcription	HUVEC	blood vessel
27	chr1:67495400-67517000	Weak transcription	Small Intestine	intestine
28	chr1:67500200-67517200	Strong transcription	HSMM	muscle
29	chr1:67500400-67516400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:67500800-67506000	Weak transcription	GM12878-XiMat	blood
31	chr1:67500800-67509000	Strong transcription	Liver	Liver
32	chr1:67500800-67515400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:67500800-67516000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:67500800-67516200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:67500800-67516600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:67500800-67517000	Strong transcription	Adipose Nuclei	Adipose
37	chr1:67500800-67517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:67501000-67517400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:67501400-67516000	Strong transcription	Fetal Intestine Large	intestine
40	chr1:67501400-67516400	Strong transcription	NH-A	brain
41	chr1:67501600-67506400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:67501600-67507000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:67501600-67510000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr1:67501600-67510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:67501800-67506600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:67501800-67506800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:67501800-67506800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:67501800-67507000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:67501800-67510400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr1:67501800-67516000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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