Variant report

Variant	rs1925412
Chromosome Location	chr1:67405057-67405058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67404451..67406130-chr1:67406945..67409077,2	MCF-7	breast:
2	chr1:67404063..67406127-chr1:67410459..67413110,2	K562	blood:
3	chr1:67394807..67399809-chr1:67404053..67407983,7	MCF-7	breast:
4	chr1:67395077..67397526-chr1:67403899..67406073,2	MCF-7	breast:
5	chr1:67404224..67406343-chr1:67407940..67409910,2	K562	blood:
6	chr1:67402975..67406629-chr1:67416021..67418318,3	K562	blood:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1118392	0.91[ASN][1000 genomes]
rs1118393	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11208976	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11208978	0.93[ASN][1000 genomes]
rs11208979	0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11208985	0.86[ASN][1000 genomes]
rs1137656	0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12039172	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041926	0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044278	0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044492	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12131222	0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12132068	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12132532	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12137403	0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12143044	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12740884	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17497828	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17497947	0.89[ASN][1000 genomes]
rs1886686	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925408	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1925411	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925413	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009311	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009319	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2025608	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031495	1.00[ASN][1000 genomes]
rs2065000	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2065001	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2147838	0.96[ASN][1000 genomes]
rs2182143	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755240	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755244	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755245	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755246	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755248	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755249	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2755250	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755253	0.83[EUR][1000 genomes]
rs2755256	1.00[YRI][hapmap]
rs2815348	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815350	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815351	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815352	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815353	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815354	0.83[ASN][1000 genomes]
rs2815357	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815359	1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815361	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815369	0.83[ASN][1000 genomes]
rs2815370	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815371	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815373	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2985794	0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985795	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985797	0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2985808	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2985810	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985811	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2985816	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985818	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985821	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985822	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985824	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985825	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985826	0.90[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985830	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008848	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008852	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008853	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008854	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008855	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008856	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008858	0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3008859	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3008860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008861	1.00[ASN][1000 genomes]
rs3008865	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008870	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008871	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3008873	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3008875	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3008888	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008892	1.00[ASN][1000 genomes]
rs3008894	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367328	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35365746	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4388680	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4570393	0.89[ASN][1000 genomes]
rs4620509	0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4655658	0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655659	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4655663	0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58680688	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6673462	0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72673725	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7511948	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs912797	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975451	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs975452	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1925412	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:67396800-67414400	Weak transcription	Lung	lung
4	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
5	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
7	chr1:67397000-67408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:67397000-67409200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:67397600-67411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:67397600-67411200	Weak transcription	Placenta	Placenta
11	chr1:67397600-67411200	Weak transcription	Fetal Stomach	stomach
12	chr1:67397600-67413000	Weak transcription	Fetal Brain Female	brain
13	chr1:67397600-67413000	Weak transcription	Fetal Kidney	kidney
14	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
15	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
16	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:67397800-67412400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:67397800-67412400	Weak transcription	Brain Germinal Matrix	brain
19	chr1:67398400-67412200	Weak transcription	Fetal Brain Male	brain
20	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:67398600-67406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67398600-67411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:67399200-67406400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:67399600-67407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:67399800-67409200	Weak transcription	Fetal Heart	heart
27	chr1:67399800-67411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:67400000-67405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:67400000-67408000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:67400000-67411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:67400200-67406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:67400200-67410200	Weak transcription	HSMMtube	muscle
33	chr1:67400400-67406400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:67400400-67409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:67400400-67410600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:67400400-67413200	Weak transcription	Brain Substantia Nigra	brain
37	chr1:67400400-67413200	Weak transcription	Fetal Lung	lung
38	chr1:67400600-67405600	Weak transcription	Fetal Thymus	thymus
39	chr1:67400600-67406200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:67400600-67406400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:67400600-67406600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:67400600-67407200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:67400600-67409200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:67400600-67409200	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:67400600-67409400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
47	chr1:67400800-67405600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:67400800-67405800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:67400800-67406200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:67400800-67406400	Weak transcription	Rectal Mucosa Donor 31	rectum

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