Variant report

Variant	rs2065000
Chromosome Location	chr1:67468124-67468125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67466588..67469246-chr1:67470517..67473070,3	K562	blood:
2	chr1:67467282..67470701-chr1:67477543..67480153,4	K562	blood:
3	chr1:67465957..67468750-chr1:67469408..67472017,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10749766	0.92[JPT][hapmap]
rs10789219	0.92[JPT][hapmap]
rs1118392	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1118393	0.86[EUR][1000 genomes]
rs11208976	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11208978	0.89[ASN][1000 genomes]
rs11208979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11208985	0.96[ASN][1000 genomes]
rs1137656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12039172	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12041926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12042824	1.00[CHB][hapmap]
rs12044278	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12044492	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12131222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12132068	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12132532	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12137403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143044	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12740884	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1535365	0.92[JPT][hapmap]
rs1570838	0.92[JPT][hapmap]
rs17497828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17497947	0.93[ASN][1000 genomes]
rs1886686	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1925408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1925409	0.90[JPT][hapmap]
rs1925410	0.90[JPT][hapmap]
rs1925411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1925412	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1925413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009311	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009319	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2031495	0.83[ASN][1000 genomes]
rs2065001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065002	0.90[JPT][hapmap]
rs2182143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2755240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755242	0.90[JPT][hapmap]
rs2755244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755248	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755249	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2755250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755251	0.90[JPT][hapmap]
rs2755253	0.90[CEU][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes]
rs2755254	0.90[JPT][hapmap]
rs2755256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2755271	0.92[JPT][hapmap]
rs2815348	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815349	0.90[JPT][hapmap]
rs2815350	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2815351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815354	1.00[ASN][1000 genomes]
rs2815357	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815360	0.92[JPT][hapmap]
rs2815361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815363	0.90[JPT][hapmap]
rs2815368	0.92[JPT][hapmap]
rs2815369	1.00[ASN][1000 genomes]
rs2815370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815373	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2985794	0.95[CEU][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2985808	0.85[EUR][1000 genomes]
rs2985810	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985811	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2985816	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985817	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2985830	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008852	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008856	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3008859	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3008860	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008861	0.83[ASN][1000 genomes]
rs3008865	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008870	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3008873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008874	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3008875	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3008888	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3008892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3008894	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34367328	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35365746	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736905	0.92[JPT][hapmap]
rs3929738	0.92[JPT][hapmap]
rs4388680	0.87[EUR][1000 genomes]
rs4620509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4655658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4655659	0.82[EUR][1000 genomes]
rs4655662	0.90[JPT][hapmap]
rs4655663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58680688	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6673462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72673725	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7511948	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs912797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs975451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2065000	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67432000-67468600	Weak transcription	Lung	lung
2	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:67447600-67470200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr1:67448000-67470800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:67448800-67468600	Weak transcription	HSMMtube	muscle
7	chr1:67448800-67470800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:67448800-67484200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:67449800-67475600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:67450800-67470600	Weak transcription	Brain Anterior Caudate	brain
13	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
14	chr1:67452400-67468400	Weak transcription	NHLF	lung
15	chr1:67452800-67471200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:67453200-67473200	Weak transcription	Colonic Mucosa	Colon
17	chr1:67453200-67484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:67454800-67483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:67454800-67484200	Weak transcription	NHDF-Ad	bronchial
20	chr1:67455000-67484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:67455000-67484200	Weak transcription	GM12878-XiMat	blood
22	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
23	chr1:67455400-67468800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
25	chr1:67455600-67468600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr1:67455600-67484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:67455800-67478200	Strong transcription	Liver	Liver
28	chr1:67455800-67485600	Weak transcription	HMEC	breast
29	chr1:67456200-67475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:67456400-67484800	Weak transcription	HUVEC	blood vessel
31	chr1:67458600-67468400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:67460000-67485200	Weak transcription	Esophagus	oesophagus
33	chr1:67461200-67478600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:67461600-67479200	Strong transcription	Fetal Intestine Large	intestine
35	chr1:67462000-67468600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:67462000-67474200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:67462000-67478400	Strong transcription	Fetal Thymus	thymus
38	chr1:67462000-67480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:67462200-67468400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:67462200-67470800	Weak transcription	Brain Substantia Nigra	brain
41	chr1:67462200-67484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:67462400-67484200	Weak transcription	Ovary	ovary
43	chr1:67462400-67508400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:67462600-67468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:67462600-67479400	Weak transcription	NHEK	skin
46	chr1:67462800-67468600	Weak transcription	NH-A	brain
47	chr1:67463000-67468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:67463800-67471200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:67463800-67476400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:67463800-67478000	Strong transcription	Duodenum Mucosa	Duodenum

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