Variant report

Variant	rs522435
Chromosome Location	chr1:150282910-150282911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150281317..150284085-chr1:150333771..150336278,2	K562	blood:
2	chr1:150280657..150283062-chr1:150292423..150294559,2	MCF-7	breast:
3	chr1:150274394..150277306-chr1:150282365..150283997,2	K562	blood:
4	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:
5	chr1:150280886..150284746-chr1:150291835..150295516,6	MCF-7	breast:
6	chr1:150266649..150270690-chr1:150280933..150283523,3	K562	blood:
7	chr1:150277809..150280750-chr1:150280887..150284512,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1097067	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1097068	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1097070	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1103115	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205357	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11205359	0.89[ASN][1000 genomes]
rs11205373	0.83[ASN][1000 genomes]
rs1122967	0.86[ASN][1000 genomes]
rs1145583	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11577600	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11577843	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11581351	0.81[AMR][1000 genomes]
rs11587758	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11590787	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12028001	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12045304	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260367	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260368	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260378	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1260386	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260388	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260389	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260394	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1260396	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260398	0.89[ASN][1000 genomes]
rs1260400	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260404	0.87[ASN][1000 genomes]
rs1260405	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260406	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260407	0.87[ASN][1000 genomes]
rs1260409	0.85[ASN][1000 genomes]
rs1260411	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260421	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260422	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1260458	0.86[ASN][1000 genomes]
rs1260459	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1313570	0.86[ASN][1000 genomes]
rs1498308	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1614039	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1617829	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1625468	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1627235	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1631973	0.83[ASN][1000 genomes]
rs1694362	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1694364	0.86[ASN][1000 genomes]
rs1694369	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1694370	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694375	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1694377	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1694380	0.91[ASN][1000 genomes]
rs1694381	0.92[ASN][1000 genomes]
rs1694385	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1694390	0.81[ASN][1000 genomes]
rs1747927	0.91[ASN][1000 genomes]
rs17596326	0.81[AMR][1000 genomes]
rs1776273	0.87[ASN][1000 genomes]
rs1776274	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1776276	0.89[ASN][1000 genomes]
rs2147324	0.85[ASN][1000 genomes]
rs2264418	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2274127	0.85[ASN][1000 genomes]
rs2454285	0.90[ASN][1000 genomes]
rs2454286	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2477121	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2762860	0.84[ASN][1000 genomes]
rs2794614	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2794615	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2794678	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2794679	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2794681	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2794682	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2794684	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2794685	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2797653	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2873669	0.81[ASN][1000 genomes]
rs3125808	0.87[ASN][1000 genomes]
rs35057759	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3896342	0.81[ASN][1000 genomes]
rs4333886	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4581308	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs471464	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs471738	0.89[ASN][1000 genomes]
rs486275	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs488271	0.91[ASN][1000 genomes]
rs4926394	0.83[ASN][1000 genomes]
rs4926395	0.83[ASN][1000 genomes]
rs4926422	0.87[ASN][1000 genomes]
rs4926436	0.81[ASN][1000 genomes]
rs500812	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs509345	0.90[ASN][1000 genomes]
rs519126	0.90[ASN][1000 genomes]
rs521607	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs543179	0.87[ASN][1000 genomes]
rs55742549	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56214461	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs578353	0.91[ASN][1000 genomes]
rs580060	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs580159	0.89[ASN][1000 genomes]
rs6662108	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6672808	0.81[ASN][1000 genomes]
rs6685252	0.86[ASN][1000 genomes]
rs696616	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698916	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698918	0.84[ASN][1000 genomes]
rs698919	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698923	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72696900	0.81[ASN][1000 genomes]
rs7512552	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7517441	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7523428	0.81[AMR][1000 genomes]
rs7554686	0.85[ASN][1000 genomes]
rs8006	0.89[ASN][1000 genomes]
rs828783	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs832621	0.83[ASN][1000 genomes]
rs832622	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834228	0.81[ASN][1000 genomes]
rs834229	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834230	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834231	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834232	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs834233	0.83[ASN][1000 genomes]
rs834234	0.85[ASN][1000 genomes]
rs834236	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs834241	0.83[ASN][1000 genomes]
rs834242	0.83[ASN][1000 genomes]
rs834243	0.88[ASN][1000 genomes]
rs844309	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9435997	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9436008	0.81[AMR][1000 genomes]
rs9436108	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9436112	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9436115	0.81[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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	164 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs522435	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:150271600-150284000	Weak transcription	Colonic Mucosa	Colon
6	chr1:150274800-150284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:150275000-150286400	Weak transcription	HepG2	liver
8	chr1:150275400-150283400	Weak transcription	Aorta	Aorta
9	chr1:150275600-150286400	Weak transcription	Psoas Muscle	Psoas
10	chr1:150276000-150293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:150276000-150293200	Weak transcription	Dnd41	blood
12	chr1:150276400-150284200	Weak transcription	NH-A	brain
13	chr1:150276400-150284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:150276400-150293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:150276400-150293200	Weak transcription	Fetal Kidney	kidney
16	chr1:150278000-150283600	Weak transcription	Fetal Lung	lung
17	chr1:150278200-150283600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:150278800-150284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:150278800-150293400	Weak transcription	NHDF-Ad	bronchial
20	chr1:150280600-150283400	Weak transcription	Small Intestine	intestine
21	chr1:150280600-150293200	Weak transcription	GM12878-XiMat	blood
22	chr1:150280800-150283800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:150280800-150283800	Weak transcription	Esophagus	oesophagus
24	chr1:150280800-150284000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:150280800-150284000	Weak transcription	Pancreas	Pancrea
26	chr1:150280800-150284000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:150280800-150284000	Weak transcription	NHLF	lung
28	chr1:150280800-150285800	Weak transcription	Thymus	Thymus
29	chr1:150280800-150289200	Weak transcription	Gastric	stomach
30	chr1:150280800-150293000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:150280800-150293200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:150280800-150293200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:150280800-150293200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:150280800-150293200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:150280800-150293200	Weak transcription	HUVEC	blood vessel
36	chr1:150280800-150293400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:150281000-150283800	Weak transcription	Fetal Stomach	stomach
38	chr1:150281000-150284000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:150281000-150284000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:150281000-150284600	Weak transcription	Primary T cells from cord blood	blood
41	chr1:150281000-150284600	Weak transcription	Ovary	ovary
42	chr1:150281000-150284600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:150281000-150285200	Weak transcription	NHEK	skin
44	chr1:150281000-150285600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:150281000-150286400	Weak transcription	Hela-S3	cervix
46	chr1:150281000-150290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:150281000-150293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:150281000-150293200	Weak transcription	Primary B cells from cord blood	blood
49	chr1:150281000-150293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:150281000-150293200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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